Record 101 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Periodic limb movement in sleep in children with Williams syndrome.
AUTHOR(S): Arens-R; Wright-B; Elliott-J; Zhao-H; Wang-PP; Brown-LW; Namey-T; Kaplan-P
ADDRESS OF AUTHOR: Division of Pulmonary Medicine, Children's Hospital of Philadelphia, PA 19104-4399, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr. 1998 Nov; 133(5): 670-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3476
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVE: Williams syndrome (WS) is associated with neurobehavioral abnormalities that include irritability and attention-deficit/hyperactivity disorder. Parents often report children having difficulties initiating and maintaining sleep because of restlessness and arousals. Therefore we evaluated a group of children with WS for the presence of a movement arousal sleep disorder. METHODS: Twenty-eight families of children with WS participated in a telephone survey aimed to screen for a movement arousal disorder. Of the 16 children identified as having such a disorder, 7 (mean age, 3.9 +/- 2.2 years) underwent polysomnography. Their studies were compared with those of 10 matched control subjects (mean age, 5.3 +/- 2.0 years). RESULTS: The 7 subjects with WS who were screened by the survey had sleep latency, total sleep time, arousals, and awakenings that were similar to those of control subjects. However, they presented with a disorder of periodic limb movement in sleep (PLMS). The PLMS index in the subjects with WS was 14.9 +/- 6.2 versus 2.8 +/- 1.9 in control subjects (P < .0001). In addition, arousal and awakening in subjects with WS were strongly associated with PLMS. Moreover, children with WS spend more time awake during sleep periods than control subjects (10.0% +/- 7.0% vs 4.4% +/- 4.7%; P < .05). Five children were treated with clonazepam, and in 4 a significant clinical response was noted. CONCLUSION: We report an association between WS and PLMS. Clonazepam may reduce the clinical symptoms of PLMS in some of these children.
MINOR MESH HEADINGS: Anticonvulsants-administration-and-dosage; Arousal-drug-effects; Arousal-physiology; Child-; Child,-Preschool; Clonazepam-administration-and-dosage; Follow-Up-Studies; Infant-; Restless-Legs-Syndrome-drug-therapy; Restless-Legs-Syndrome-genetics; Wakefulness-drug-effects; Wakefulness-physiology; Williams-Syndrome-drug-therapy; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Polysomnography-; *Restless-Legs-Syndrome-diagnosis; *Williams-Syndrome-diagnosis
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 1622-61-3
NAME OF SUBSTANCE: Anticonvulsants; Clonazepam
MEDLINE ACCESSION NUMBER: 99038868
UPDATE CODE: 199902
SUBSET: AIM
Record 102 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Transmembrane neuregulins interact with LIM kinase 1, a cytoplasmic protein kinase implicated in development of visuospatial cognition.
AUTHOR(S): Wang-JY; Frenzel-KE; Wen-D; Falls-DL
ADDRESS OF AUTHOR: Department of Biology, Emory University, Atlanta, Georgia 30322, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Biol-Chem. 1998 Aug 7; 273(32): 20525-34
INTERNATIONAL STANDARD SERIAL NUMBER: 0021-9258
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The neuregulins are receptor tyrosine kinase ligands that play a critical role in the development of the heart, nervous system, and breast. Unlike many extracellular signaling molecules, such as the neurotrophins, most neuregulins are synthesized as transmembrane proteins. To determine the functions of the highly conserved neuregulin cytoplasmic tail, a yeast two-hybrid screen was performed to identify proteins that interact with the 157-amino acid sequence common to the cytoplasmic tails of all transmembrane neuregulin isoforms. This screen revealed that the neuregulin cytoplasmic tail interacts with the LIM domain region of the nonreceptor protein kinase LIM kinase 1 (LIMK1). Interaction between the neuregulin cytoplasmic tail and full-length LIMK1 was demonstrated by in vitro binding and co-immunoprecipitation assays. Transmembrane neuregulins with each of the three known neuregulin cytoplasmic tail isoforms interacted with LIMK1. In contrast, the cytoplasmic tail of TGF-alpha did not interact with LIMK1. In vivo, neuregulin and LIMK1 are co-localized at the neuromuscular synapse, suggesting that LIMK1, like neuregulin, may play a role in synapse formation and maintenance. To our knowledge, LIMK1 is the first identified protein shown to interact with the cytoplasmic tail of a receptor tyrosine kinase ligand.
MINOR MESH HEADINGS: COS-Cells; Immunohistochemistry-; Membrane-Proteins-physiology; Molecular-Sequence-Data; Muscles-cytology; Muscles-physiology; Nerve-Tissue-Proteins; Neuromuscular-Junction-cytology; Neuromuscular-Junction-physiology; Plasmids-genetics; Protein-Binding-physiology; Rats-; Receptor-Protein-Tyrosine-Kinases-physiology; Recombinant-Proteins-metabolism; Transfection-genetics; Transforming-Growth-Factor-alpha-metabolism; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *DNA-Binding-Proteins-metabolism; *Glycoproteins-metabolism; *Protein-Serine-Threonine-Kinases-metabolism
CHECKTAGS: Animal; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: GM56337GMNIGMS
CAS REGISTRY NUMBER OR EC NUMBER: EC 2.7.10; EC 2.7.11.-; 0; 0; 0; 0; 0; 0; 0; 0; 0
NAME OF SUBSTANCE: Protein-Serine-Threonine-Kinases; Receptor-Protein-Tyrosine-Kinases; DNA-Binding-Proteins; Glycoproteins; Kiz-1-protein; Membrane-Proteins; Nerve-Tissue-Proteins; Neuregulins; Plasmids; Recombinant-Proteins; Transforming-Growth-Factor-alpha
MEDLINE ACCESSION NUMBER: 98352096
UPDATE CODE: 199811
Record 103 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Percutaneous transluminal angioplasty of renal artery stenosis in children.
AUTHOR(S): Courtel-JV; Soto-B; Niaudet-P; Gagnadoux-MF; Carteret-M; Quignodon-JF; Brunelle-F
ADDRESS OF AUTHOR: Service de radiologie pediatrique, Hopital des Enfants Malades, 149 rue de Sevres, F-75 743 Paris cedex 15, France.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Radiol. 1998 Jan; 28(1): 59-63
INTERNATIONAL STANDARD SERIAL NUMBER: 0301-0449
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Twenty percutaneous transluminal renal angioplasties were performed on 16 children (mean age 8.7 years) with hypertension secondary to renal artery stenosis (RAS). The aetiologies were neurofibromatosis (n = 1), Williams syndrome (n = 2), Takayasu arteritis (n = 1) and fibromuscular dysplasia (n = 12). The stenosis was isolated proximal or distal in 13 cases and multiple in 3 cases. Angioplasty resulted in a complete cure without medical treatment in 9 cases. Angioplasty allowed a reduction of medical treatment in two single stenoses, but was ineffective in all cases of multiple stenoses. Our findings show that angioplasty of RAS in children is an effective treatment when the stenosis is isolated, with a 69 % success rate. It seems ineffective in case of multiple stenoses (three cases).
MINOR MESH HEADINGS: Adolescence-; Child-; Child,-Preschool; Fibromuscular-Dysplasia-complications; Hypertension,-Renal-therapy; Infant-; Neurofibromatoses-complications; Renal-Artery-Obstruction-etiology; Renal-Artery-Obstruction-radiography; Takayasu's-Arteritis-complications; Treatment-Outcome; Williams-Syndrome-complications
MAJOR MeSH HEADINGS: *Angioplasty,-Balloon; *Renal-Artery-Obstruction-therapy
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 98089129
UPDATE CODE: 199805
Record 104 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Williams syndrome without cardiovascular abnormalities]
ORIGINAL TITLE: Sindrome di Williams in assenza di anomalie cardiovascolari.
AUTHOR(S): Cincinnati-P; Genuardi-M; Rutiloni-C
ADDRESS OF AUTHOR: Sezione Autonoma di Pediatria, Ospedale E. de Santis, Genzano, Roma.
SOURCE (BIBLIOGRAPHIC CITATION): Minerva-Pediatr. 1998 Nov; 50(11): 467-71
INTERNATIONAL STANDARD SERIAL NUMBER: 0026-4946
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ITALIAN; NON-ENGLISH
COUNTRY OF PUBLICATION: ITALY
ABSTRACT: In a patient with facial dysmorphic traits, growth deficiency, mental retardation but without cardiovascular anomalies, detection of hemizygosity at the elastin locus by FISH analysis confirmed diagnosis of Williams Syndrome (WS). To date, cardiovascular pathology in WS is thought to be the result of a localized response of inelastic vessels to haemodynamic stress in fetal life. Patients with deletion at the elastin locus and no cardiovascular defects suggest that genetic aspects other than hemizygosity must be investigated, such as transcriptional regulation of the elastin gene expression. Moreover, a complete characterization of the region commonly deleted in 7q11.23 is needed before excluding other genes as responsible for the cardiovascular defects. Clinical investigations are requested for selecting patients with partial phenotype, various degrees of tissue damage and different evolution at follow-up.
MINOR MESH HEADINGS: Cardiovascular-Diseases-diagnosis; Child,-Preschool; Chromosome-Abnormalities-genetics; Chromosomes,-Human,-Pair-7-genetics; English-Abstract; Hemodynamics-; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Williams-Syndrome-diagnosis
CHECKTAGS: Case-Report; English-Abstract; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99223703
UPDATE CODE: 199908
Record 105 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: A gene-dosage PCR method for the detection of elastin gene deletions in patients with Williams syndrome.
AUTHOR(S): del-Rio-T; Urban-Z; Csiszar-K; Boyd-CD
ADDRESS OF AUTHOR: The Pacific Biomedical Research Center, University of Hawaii, Honolulu 96822, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Genet. 1998 Aug; 54(2): 129-35
INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9163
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: DENMARK
ABSTRACT: Williams syndrome (WS) is a multisystem developmental disorder associated with microdeletions at 7q11.23 that involve several genes, including the elastin gene. Using genomic DNA from a panel of normal individuals and WS patients with established hemizygosity of the elastin gene locus, we have developed a quantitative polymerase chain reaction (PCR)-based gene-dosage assay that rapidly detects the loss of one allele of the elastin gene. Using this procedure, we also studied a family in which the proband was previously diagnosed with WS and her mother with a balanced 7q translocation [t(7:11)(q34;q13)]. Using DNA isolated from buccal smears obtained from several individuals in this family we were able to establish normal disomy at 7q in all family members except for the proband, in which we established hemizygosity at the elastin gene locus. We were also able to successfully infer normal disomy in an unborn child in this family. The rapid diagnostic procedure described here may have a variety of applications, including fine mapping of deletion breakpoints at 7q11.23 associated with WS.
MINOR MESH HEADINGS: Adult-; Child-; Chromosomes,-Human,-Pair-11-genetics; Pedigree-
MAJOR MeSH HEADINGS: *Elastin-genetics; *Gene-Deletion; *Gene-Dosage; *Polymerase-Chain-Reaction-methods; *Williams-Syndrome-diagnosis; *Williams-Syndrome-genetics
CHECKTAGS: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: RR03061RRNCRR
CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3
NAME OF SUBSTANCE: Elastin
MEDLINE ACCESSION NUMBER: 98432558
UPDATE CODE: 199908
Record 106 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Anaesthetic management of a patient with Williams syndrome undergoing aortoplasty for supravalvular aortic stenosis.
AUTHOR(S): Kawahito-S; Kitahata-H; Kimura-H; Tanaka-K; Sakai-Y; Hirose-Y; Oshita-S
ADDRESS OF AUTHOR: Department of Anaesthesiology, Tokushima University School of Medicine, Japan. kawahito@clin.med
SOURCE (BIBLIOGRAPHIC CITATION): Can-J-Anaesth. 1998 Dec; 45(12): 1203-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0832-610X
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: CANADA
ABSTRACT: PURPOSE: A case of a patient associated with Williams syndrome undergoing aortoplasty for supravalvular aortic stenosis is presented. CLINICAL FEATURES: Williams syndrome is a rare disease associated with a characteristic facies, supravalvular aortic stenosis, and mental retardation. A 15-yr-old girl with Williams syndrome underwent aortoplasty for supravalvular aortic stenosis. Anaesthesia was induced with fentanyl and thiamylal, and maintained with nitrous oxide, oxygen, sevoflurane, and continuous intravenous infusion of fentanyl. Supravalvular aortic stenosis was evaluated using a multiplane transesophageal echocardiography (TEE) probe before and after repair. CONCLUSION: Multiplane TEE was found to be very useful for anaesthetic management in a patient with Williams syndrome undergoing aortoplasty for supravalvular aortic stenosis.
MINOR MESH HEADINGS: Adolescence-; Anesthetics,-Inhalation-administration-and-dosage; Anesthetics,-Intravenous-administration-and-dosage; Aortic-Valve-Stenosis-ultrasonography; Echocardiography,-Doppler,-Color; Echocardiography,-Transesophageal; Fentanyl-administration-and-dosage; Methyl-Ethers-administration-and-dosage; Nitrous-Oxide-administration-and-dosage; Oxygen-administration-and-dosage; Thiamylal-administration-and-dosage
MAJOR MeSH HEADINGS: *Anesthesia,-General; *Aortic-Valve-Stenosis-surgery; *Williams-Syndrome-surgery
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 10024-97-2; 28523-86-6; 437-38-7; 77-27-0; 7782-44-7
NAME OF SUBSTANCE: Anesthetics,-Inhalation; Anesthetics,-Intravenous; Methyl-Ethers; Nitrous-Oxide; sevoflurane; Fentanyl; Thiamylal; Oxygen
MEDLINE ACCESSION NUMBER: 99161093
UPDATE CODE: 199907
Record 107 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Neuro-urological findings in Williams syndrome: report of a case]
ORIGINAL TITLE: Achados neuro-urologicos da sindrome de Williams: relato de caso.
AUTHOR(S): Tobias-Machado-M; Marinelli-CM; Sakuramoto-PK; Spinola-RT; Borrelli-Junior-M; Freire-G-de-C; Borrelli-M
ADDRESS OF AUTHOR: Servico de Urologia, Hospital Indianopolis (HI), Sao Paulo.
SOURCE (BIBLIOGRAPHIC CITATION): Arq-Neuropsiquiatr. 1998 Sep; 56(3B): 683-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0004-282X
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: PORTUGUESE; NON-ENGLISH
COUNTRY OF PUBLICATION: BRAZIL
ABSTRACT: The Williams syndrome is a relatively rare disease with characteristic facial appearance, mental retardation, growth deficiency, cardiovascular anomalies, hypercalcemia and multiple organic dysfunctions. However, the urological findings of this syndrome (positive in up to 40% of patients) have not been frequently discussed. We present the case of a 6 year-old white girl with this diagnosis and a 3-year history of urinary incontinence. The investigation revealed bladder diverticula and detrusor hyperactivity, which was successfully treated with oxibutimin. We stress the importance of urological investigation, describe the main findings and discuss the pathophysiology and management, which significantly improves the quality of life of these children.
MINOR MESH HEADINGS: Child-; English-Abstract; Mandelic-Acids-therapeutic-use; Urinary-Incontinence-drug-therapy; Urinary-Incontinence-physiopathology; Williams-Syndrome-physiopathology
MAJOR MeSH HEADINGS: *Urinary-Incontinence-etiology; *Williams-Syndrome-complications
CHECKTAGS: Case-Report; English-Abstract; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 5633-20-5
NAME OF SUBSTANCE: Mandelic-Acids; oxybutynin
MEDLINE ACCESSION NUMBER: 99067757
UPDATE CODE: 199905
Record 108 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Familial Williams-Beuren syndrome.
AUTHOR(S): Ounap-K; Laidre-P; Bartsch-O; Rein-R; Lipping-Sitska-M
ADDRESS OF AUTHOR: Medical Genetics Center, Tartu University Children's Hospital, Estonia. kati@dna.cut.ee
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1998 Dec 28; 80(5): 491-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams-Beuren syndrome (WBS) occurs sporadically; however, at least four familial cases of WBS have been described previously. We describe a mother and her son with typical WBS. The diagnosis of WBS in the son was confirmed by molecular cytogenetic analysis fluorescence in situ hybridization. He had a deletion of 7q11.23 at the ELN locus. The mother was diagnosed after the identification of WBS in her affected son. She is deceased and was thus not studied by FISH. However, her combined symptoms make it very clear that she had WBS. Two traits uncommon in WBS were observed, unilateral renal hypoplasia in the mother and a hemivertebra at L5 in the son.
MINOR MESH HEADINGS: Adult-; Child-; In-Situ-Hybridization,-Fluorescence
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99094823
UPDATE CODE: 199905
Record 109 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion.
AUTHOR(S): Paperna-T; Peoples-R; Wang-YK; Kaplan-P; Francke-U
ADDRESS OF AUTHOR: Department of Genetics, Stanford University School of Medicine, Stanford, California, 94305, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1998 Dec 15; 54(3): 453-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder affecting multiple systems. Haploinsufficiency of genes deleted in chromosomal region 7q11.23 is the likely cause for this syndrome. We now report the localization of the genes for the CPE-R (Clostridium perfringens enterotoxin receptor, CPETR1) and the human homolog of RVP1 (rat ventral prostate 1 protein, CPETR2), both previously mapped to 7q11, to the WBS critical region. A single nucleotide polymorphism (SNP) present in CPETR1 has been identified and was used to determine parental origin of the deleted allele in five informative families. The mouse homologs Cpetr1 and Cpetr2 were identified and mapped to the conserved syntenic region on mouse chromosome 5. Northern blot analysis of CPETR1 demonstrates tissue specificity, with expression in kidney, lung, thyroid, and gastrointestinal tissues. In mouse, Cpetr1 is expressed in the early embryo, appears to be developmentally upregulated during gestation, and is present in adult tissues. Our results suggest a role for CPE-R in internal organ development and function during pre- and postnatal life. Copyright 1998 Academic Press.
MINOR MESH HEADINGS: Chromosome-Mapping; Chromosomes,-Human,-Pair-7; Gene-Expression-Regulation,-Developmental; Introns-; Mice-; Mice,-Inbred-C57BL; Mice,-Inbred-Strains; Molecular-Sequence-Data; Sequence-Homology,-Amino-Acid; Tissue-Distribution; 5'-Untranslated-Regions
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Proteins-genetics; *Receptors,-Cell-Surface-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Animal; Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: HG00298HGNHGRI; HD33505HDNICHD; HD01181HDNICHD
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 144996-43-0
NAME OF SUBSTANCE: CPE-R-protein; Proteins; Receptors,-Cell-Surface; 5'-Untranslated-Regions; RVP.1-protein
MEDLINE ACCESSION NUMBER: 99097345
UPDATE CODE: 199904
SECONDARY SOURCE IDENTIFIER: GENBANK/AF095905
Record 110 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: FISH analysis in both classical and atypical cases of Williams-Beuren syndrome.
AUTHOR(S): Hou-JW; Wang-JK; Wang-TR
ADDRESS OF AUTHOR: Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
SOURCE (BIBLIOGRAPHIC CITATION): Chung-Hua-Min-Kuo-Hsiao-Erh-Ko-I-Hsueh-Hui-Tsa-Chih. 1998 Nov-Dec; 39(6): 398-403
INTERNATIONAL STANDARD SERIAL NUMBER: 0001-6578
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: TAIWAN
ABSTRACT: Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder, characterized by distinct facial changes, growth deficiency, mental retardation, supravalvular aortic stenosis (SVAS)/peripheral pulmonary stenosis, and associated at times with infantile hypercalcemia. A pilot study has been carried out to assess the reliability of the detection of hemizygosity at the elastin locus by fluorescence in situ hybridization (FISH) analysis as a diagnostic test in both classical and atypical WBS. Eight subjects with classical WBS and four others in whom a diagnosis could not be confirmed on clinical criteria alone were enrolled. In the classical WBS group, five (5/8) had a visible interstitial 7q11.22-11.23 deletion detected by high-resolution banding, and all (8/8) had a submicroscopic deletion of the elastin locus on chromosome 7 by FISH analysis. In the atypical WBS group, only one (1/4) had elastin deletion. The other three, with isolated SVAS, had normal development and minimal signs of WBS. Furthermore, the patients with microscopic 7q11.22-11.23 deletion have more associated features of WBS than those without visible interstitial deletions by high-resolution banding. These results, therefore, emphasize the importance of a combined high-resolution and molecular cytogenetic (i.e., FISH) approach to diagnosis and suggest that the degree to which microscopic/submicroscopic deletions of chromosome 7 extending in beyond the elastin locus may explain some of the phenotypical variability found in WBS.
MINOR MESH HEADINGS: Child-; Child,-Preschool; Chromosomes,-Human,-Pair-7; Gene-Deletion; Genetic-Markers; Infant-; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Elastin-genetics; *In-Situ-Hybridization,-Fluorescence; *Williams-Syndrome-diagnosis
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 9007-58-3
NAME OF SUBSTANCE: Genetic-Markers; Elastin
MEDLINE ACCESSION NUMBER: 99125338
UPDATE CODE: 199904
Record 111 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: The BCL7 gene family: deletion of BCL7B in Williams syndrome.
AUTHOR(S): Jadayel-DM; Osborne-LR; Coignet-LJA; Zani-VJ; Tsui-LC; Scherer-SW; Dyer-MJ
ADDRESS OF AUTHOR: Academic Hematology and Cytogenetics, The Institute of Cancer Research, Haddow Laboratories, Sutton, Surrey SM2 5NG, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Gene. 1998 Dec 11; 224(1-2): 35-44
INTERNATIONAL STANDARD SERIAL NUMBER: 0378-1119
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: NETHERLANDS
ABSTRACT: The BCL7A gene, which maps to human chromosome 12q24.13, was cloned through its direct involvement with MYC and IGH in a three-way translocation in a Burkitt lymphoma cell line. Here, we describe the identification of two related human genes, BCL7B and BCL7C, which share 90% identity to the amino-terminal 51 amino acids of human BCL7A, as well as 41% identity in the same region to Drosophila melanogaster, Caenorhabditis elegans, and Brugia malayi EST sequences. This degree of relatedness in the amino-terminal domain suggests we have defined a new gene family of unknown function. There was little sequence conservation between the family members outside this conserved domain and no identified protein motifs could be deduced. Human BCL7B and BCL7C mapped to chromosome 7q11.23, and 16p11, respectively. No chromosomal rearrangements affecting BCL7B or BCL7C were detected in lymphoid malignancies. BCL7B did, however, map within the region of 7q11.23 which is commonly deleted in the congenital disorder, Williams syndrome.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Base-Sequence; Brugia-chemistry; Brugia-genetics; Chromosome-Mapping; Chromosomes,-Human,-Pair-16-genetics; Chromosomes,-Human,-Pair-7-genetics; Drosophila-melanogaster-chemistry; Drosophila-melanogaster-genetics; Gene-Expression; Genes,-Structural-genetics; In-Situ-Hybridization,-Fluorescence; Microfilament-Proteins-genetics; Molecular-Sequence-Data; Multigene-Family-genetics; RNA,-Messenger-genetics; RNA,-Messenger-metabolism; Sequence-Alignment; Sequence-Deletion; Sequence-Homology,-Amino-Acid; Tissue-Distribution
MAJOR MeSH HEADINGS: *DNA-Probes-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Animal; Comparative-Study; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 0
NAME OF SUBSTANCE: BCL7B-protein; BCL7C-protein; DNA-Probes; Microfilament-Proteins; RNA,-Messenger
MEDLINE ACCESSION NUMBER: 99132633
UPDATE CODE: 199904
SECONDARY SOURCE IDENTIFIER: GENBANK/AJ010869; GENBANK/AJ011145; GENBANK/AJ223980; GENBANK/Y11905
Record 112 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Reoperation for diffuse supravalvular aortic stenosis with Williams syndrome--extended patch aortoplasty and extra-anatomic bypass from the ascending aorta to the descending aorta in a median sternotomy]
AUTHOR(S): Kumada-Y; Yasuda-H; Sasaki-E; Murakawa-S; Mori-Y; Hirose-H
ADDRESS OF AUTHOR: First Department of Surgery, Gifu University, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Jpn-J-Thorac-Cardiovasc-Surg. 1998 Oct; 46(10): 1061-4
INTERNATIONAL STANDARD SERIAL NUMBER: 1344-4964
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: A case of diffuse supravalvular aortic stenosis (SVAS) with Williams syndrome is reported. In this case of severe diffuse SVAS, we performed the diamond-patch aortoplasty in a child. However he has been suffering from residual SVAS. At 9-years old, the myocardial injury was noted by myocardial scintigraphy. Preoperative cardiac catheterization and angiography revealed the hypoplastic ascending aorta and arch with a pressure gradient of 89 mmHg at the distal site from the left subclavian artery. Through only a median stenotomy, an extended patch aortoplasty between the valsalva sinus and distal arch was performed and an extraanatomic bypass from the ascending aorta to the descending aorta was employed using a 10 mm tube graft. We realize this technique is available because this method can relieve the left ventriculus of the pressure load and operate via only median sternotomy.
MINOR MESH HEADINGS: Blood-Vessel-Prosthesis-Implantation; Child-; English-Abstract; Methods-; Reoperation-; Sternum-surgery
MAJOR MeSH HEADINGS: *Aorta-surgery; *Aorta,-Thoracic-surgery; *Aortic-Valve-Stenosis-surgery; *Williams-Syndrome-surgery
CHECKTAGS: Case-Report; English-Abstract; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99064056
UPDATE CODE: 199904
Record 113 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Adults with Williams syndrome [letter; comment]
COMMENTS: Comment on: Br J Psychiatry 1998 Mar;172:273-6
AUTHOR(S): Russell-PS
SOURCE (BIBLIOGRAPHIC CITATION): Br-J-Psychiatry. 1998 Sep; 173: 268-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0007-1250
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
MINOR MESH HEADINGS: Adult-; Bias-Epidemiology; Phenotype-
MAJOR MeSH HEADINGS: *Behavior-; *Williams-Syndrome-psychology
CHECKTAGS: Human
PUBLICATION TYPE: COMMENT; LETTER
MEDLINE ACCESSION NUMBER: 99124932
UPDATE CODE: 199904
Record 114 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Case report: essential iris atrophy in the Williams-Beuren syndrome.
AUTHOR(S): Salati-R; Baraldi-E; Giorda-R
ADDRESS OF AUTHOR: Department of Pediatric Ophthalmology, Scientific Institute E. Medea (Lc), Italy.
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr-Ophthalmol-Strabismus. 1998 Nov-Dec; 35(6): 336-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0191-3913
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Atrophy-; Child-; Williams-Syndrome-complications
MAJOR MeSH HEADINGS: *Iris-pathology; *Williams-Syndrome-pathology
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99067494
UPDATE CODE: 199904
Record 115 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23.
AUTHOR(S): Peoples-RJ; Cisco-MJ; Kaplan-P; Francke-U
ADDRESS OF AUTHOR: Department of Genetics, Stanford University School of Medicine, Stanford, California 94305-5323 (USA).
SOURCE (BIBLIOGRAPHIC CITATION): Cytogenet-Cell-Genet. 1998; 82(3-4): 238-46
INTERNATIONAL STANDARD SERIAL NUMBER: 0301-0171
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: SWITZERLAND
ABSTRACT: We have identified a novel gene (WBSCR9) within the common Williams-Beuren syndrome (WBS) deletion by interspecies sequence conservation. The WBSCR9 gene encodes a roughly 7-kb transcript with an open reading frame of 1483 amino acids and a predicted protein product size of 170.8 kDa. WBSCR9 is comprised of at least 20 exons extending over 60 kb. The transcript is expressed ubiquitously throughout development and is subject to alternative splicing. Functional motifs identified by sequence homology searches include a bromodomain; a PHD, or C4HC3, finger; several putative nuclear localization signals; four nuclear receptor binding motifs; a polyglutamate stretch and two PEST sequences. Bromodomains, PHD motifs and nuclear receptor binding motifs are cardinal features of proteins that are involved in chromatin remodeling and modulation of transcription. Haploinsufficiency for WBSCR9 gene products may contribute to the complex phenotype of WBS by interacting with tissue-specific regulatory factors during development.
MINOR MESH HEADINGS: Base-Sequence; Centromere-genetics; Chromosomes,-Yeast-Artificial; CHO-Cells; Exons-; Gene-Dosage; Gene-Expression; Hamsters-; Introns-; Mice-; Molecular-Sequence-Data; Sequence-Homology,-Amino-Acid; Transcription,-Genetic-genetics
MAJOR MeSH HEADINGS: *Chromosome-Mapping; *Chromosomes,-Human,-Pair-7; *Gene-Deletion; *Transcription-Factors-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Animal; Human; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: HG00298HGNHGRI; HD33505HDNICHD; HD01181HDNICHD
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0
NAME OF SUBSTANCE: Transcription-Factors; WBSCR9-protein
MEDLINE ACCESSION NUMBER: 99077764
UPDATE CODE: 199904
SECONDARY SOURCE IDENTIFIER: GENBANK/AF084479; GENBANK/AF084480
Record 116 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Knowledge enrichment and conceptual change in folkbiology: evidence from Williams syndrome.
AUTHOR(S): Johnson-SC; Carey-S
ADDRESS OF AUTHOR: University of Pittsburgh, PA 15260, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Cognit-Psychol. 1998 Nov; 37(2): 156-200
INTERNATIONAL STANDARD SERIAL NUMBER: 0010-0285
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Ten participants with Williams syndrome (WS) (average verbal mental age of 11;5) were compared to two groups of normally developing children (average mental ages 10;11 and 6;7 years) with respect to intuitive biological knowledge about people, animals, and plants. Participants in the older control group were individually matched to the participants with WS on verbal mental age. The probes for biological understanding were drawn from the existing literature on the development of folkbiology and were divided into two batteries based on the hypothesized distinction of (1) general knowledge consistent with the conceptual repertoire of normally developing preschool children (the T1/T2-Neutral Animal Knowledge battery) and (2) folkbiological concepts normally acquired between ages 6 and 12 which require conceptual change for their construction (life, death, people-as-one-animal-among-many, species kind as determined by origin of the animal; the T2-Dependent battery). The two task batteries were equated for task demands, differing only in the content of the concepts probed. It was hypothesized that if this distinction is a false one, and the construction of folkbiology is accomplished entirely by enrichment of the preschooler's knowledge, there should never be a population with differential performance on these two batteries. People with WS were nonetheless found to be differentially impaired on the T2-Dependent battery. They performed at the level of the older control group on the T1/T2-Neutral battery, but at the level of the 6-year-olds on the T2-Dependent battery. These data support the distinction between two types of conceptual knowledge acquisition: acquisition of new knowledge formulated over an existing conceptual base (enrichment), on the one hand, and knowledge acquisition that results in genuine conceptual change, on the other. The implication of these results for a precise characterization of how concepts of people with "cocktail party syndrome" may be "superficial" is also discussed. Copyright 1998 Academic Press.
MINOR MESH HEADINGS: Adolescence-; Adult-; Case-Control-Studies; Child-; Matched-Pair-Analysis; Statistics,-Nonparametric
MAJOR MeSH HEADINGS: *Concept-Formation; *Human-Development; *Learning-; *Williams-Syndrome-psychology
CHECKTAGS: Human; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: 2T32MH1882316MHNIMH
MEDLINE ACCESSION NUMBER: 99097305
UPDATE CODE: 199904
Record 117 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: A novel human gene, WSTF, is deleted in Williams syndrome.
AUTHOR(S): Lu-X; Meng-X; Morris-CA; Keating-MT
ADDRESS OF AUTHOR: Department of Human Genetics, University of Utah, Salt Lake City, Utah, 84112, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1998 Dec 1; 54(2): 241-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams syndrome (WS) is a developmental disorder caused by deletion of multiple genes at chromosome 7q11.23. Here, we report the identification and characterization of a novel gene, WSTF, that maps to the common WS deletion region. WSTF encodes a novel protein of 1425 amino acids with unknown function. It contains one PHD-type zinc finger motif followed by a bromodomain. Both motifs are found in many transcription regulators, suggesting that WSTF may function as a transcription factor. WSTF is ubiquitously expressed in both adult and fetal tissues. The WSTF gene consists of 20 exons spanning about 80 kb. Fluorescence in situ hybridization analysis shows that WSTF is deleted in 50/50 WS individuals. Hemizygous deletion of WSTF may contribute to WS. Copyright 1998 Academic Press.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Base-Sequence; Chromosomes,-Human,-Pair-7-genetics; Cloning,-Molecular; DNA-Primers-genetics; Exons-genetics; In-Situ-Hybridization,-Fluorescence; Introns-genetics; Molecular-Sequence-Data; RNA,-Messenger-genetics; Sequence-Alignment; Sequence-Analysis,-DNA
MAJOR MeSH HEADINGS: *Gene-Deletion; *Williams-Syndrome-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: RO1HD29957HDNICHD; RO1NS3510201NSNINDS; MO1RR0064RRNCRR
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0
NAME OF SUBSTANCE: DNA-Primers; RNA,-Messenger
MEDLINE ACCESSION NUMBER: 99047530
UPDATE CODE: 199903
SECONDARY SOURCE IDENTIFIER: GENBANK/AF072810
Record 118 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: The murine CYLN2 gene: genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region.
AUTHOR(S): Hoogenraad-CC; Eussen-BH; Langeveld-A; van-Haperen-R; Winterberg-S; Wouters-CH; Grosveld-F; De-Zeeuw-CI; Galjart-N
ADDRESS OF AUTHOR: MGC Department of Cell Biology and Genetics, Erasmus University, Rotterdam, 3000 DR, The Netherlands.
SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1998 Nov 1; 53(3): 348-58
INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Cytoplasmic linker proteins (CLIPs) have been proposed to mediate the interaction between specific membranous organelles and microtubules. We have recently characterized a novel member of this family, called CLIP-115. This protein is most abundantly expressed in the brain and was found to associate both with microtubules and with an organelle called the dendritic lamellar body. CLIP-115 is highly homologous to CLIP-170, or restin, which is a protein involved in the binding of endosomes to microtubules. Using the rat cDNA as a probe we have isolated overlapping cosmids containing the complete murine and part of the human CYLN2 (cytoplasmic linker-2) genes, which encode CLIP-115. The murine gene spans 60 kb and consists of 17 exons, and its promoter is embedded in a CpG island. Murine CYLN2 maps to the telomeric end of mouse chromosome 5. The human CYLN2 gene is localized to a syntenic region on chromosome 7q11.23, which is commonly deleted in Williams syndrome. It spans at least 140 kb at the 3' end of the deletion. Human CYLN2 is very likely identical to the previously characterized, incomplete WSCR4 and WSCR3 transcription units. Copyright 1998 Academic Press.
MINOR MESH HEADINGS: Adult-; Amino-Acid-Sequence; Base-Sequence; Brain-metabolism; Chromosome-Mapping; DNA,-Complementary-genetics; Exons-; Gene-Expression; In-Situ-Hybridization,-Fluorescence; Introns-; Mice-; Molecular-Sequence-Data; Pregnancy-; Rats-; Sequence-Homology,-Amino-Acid; Species-Specificity; Tissue-Distribution
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7-genetics; *Microtubule-Associated-Proteins-genetics; *Nerve-Tissue-Proteins-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Animal; Comparative-Study; Female; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0
NAME OF SUBSTANCE: cytoplasmic-linker-protein-115; DNA,-Complementary; Microtubule-Associated-Proteins; Nerve-Tissue-Proteins
MEDLINE ACCESSION NUMBER: 99017971
UPDATE CODE: 199903
SECONDARY SOURCE IDENTIFIER: GENBANK/AJ228863; GENBANK/AJ228864; GENBANK/AJ228865; GENBANK/AJ228866; GENBANK/AJ228867; GENBANK/AJ228868; GENBANK/AJ228869; GENBANK/AJ228870; GENBANK/AJ228871; GENBANK/AJ228872; GENBANK/AJ228873; GENBANK/AJ228874; GENBANK/AJ228875; GENBANK/AJ228876; GENBANK/AJ228877; GENBANK/AJ228878; GENBANK/AJ228879; GENBANK/AJ228880
Record 119 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Syntax and morphology in Williams syndrome.
AUTHOR(S): Clahsen-H; Almazan-M
ADDRESS OF AUTHOR: Department of Linguistics, University of Essex, Colchester, UK. harald@essex.ac.uk
SOURCE (BIBLIOGRAPHIC CITATION): Cognition. 1998 Sep; 68(3): 167-98
INTERNATIONAL STANDARD SERIAL NUMBER: 0010-0277
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: NETHERLANDS
ABSTRACT: Williams syndrome (WS) is a neuro-developmental disorder which is characterized by an unusual fractionation of language abilities and other cognitive functions. We have investigated four cases of English-speaking subjects with WS, and we show that despite their low IQs the WS children's performance on syntactic tasks and on regular inflection is not impaired. Irregular inflection, however, is affected causing many errors. We also report results from studies investigating the same linguistic phenomena in children with specific language impairment. These children exhibit a different pattern of impairment, with relatively poor performance on syntactic tasks and regular inflection. We suggest a linguistic characterization of the morphosyntax in WS according to which WS subjects are impaired in accessing (particular kinds of) information from lexical entries, with their computational system for language appearing to be intact. We interpret the selective impairments found in WS and SLI as supporting the theoretical distinction between a computational system and an associative memory system for language.
MINOR MESH HEADINGS: Adolescence-; Child-; Child-Language; Language-Disorders-diagnosis; Memory-Disorders-complications; Memory-Disorders-diagnosis; Verbal-Behavior
MAJOR MeSH HEADINGS: *Language-Disorders-complications; *Williams-Syndrome-complications
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99069766
UPDATE CODE: 199903
Record 120 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Magnetic resonance features of supravalvular aortic stenosis in William's syndrome. Report of 2 cases]
ORIGINAL TITLE: Aspetti con Risonanza Magnetica della stenosi sopravalvolare aortica nella sindrome di Williams. Descrizione di due casi.
AUTHOR(S): Di-Cesare-E; Sabatini-M; Splendiani-A; Masciocchi-C
ADDRESS OF AUTHOR: Cattedra di Radiologia, Universita degli Studi, L'Aquila.
SOURCE (BIBLIOGRAPHIC CITATION): Radiol-Med-Torino. 1998 Jul-Aug; 96(1-2): 113-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0033-8362
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ITALIAN; NON-ENGLISH
COUNTRY OF PUBLICATION: ITALY
MINOR MESH HEADINGS: Adult-; Child-
MAJOR MeSH HEADINGS: *Magnetic-Resonance-Imaging; *Williams-Syndrome-pathology
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99037068
UPDATE CODE: 199902
Record 121 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [A surgical case of supravalvular aortic stenosis with severe hypoplastic ascending aorta (diffuse type) in Williams-Beuren syndrome]
AUTHOR(S): Uchita-S; Fujiwara-T; Matsuo-K; Suetsugu-F; Aotsuka-H; Okajima-Y
ADDRESS OF AUTHOR: Department of Cardiovascular Surgery, Chiba Children's Hospital, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Jpn-J-Thorac-Cardiovasc-Surg. 1998 Sep; 46(9): 928-32
INTERNATIONAL STANDARD SERIAL NUMBER: 1344-4964
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: We report a six-year-old boy who underwent ascending aortic reconstruction for supravalvular aortic stenosis of diffuse type associated with Williams-Beuren syndrome. The diagnosis was first made at the age of six months. Because of progressive left ventricular hypertrophy, cardiac catheterization was performed at the age of five years and showed left ventricular pressure of 200 mmHg, the ascending aortic pressure of 202 mmHg, the descending aortic pressure of 115 mmHg, and left ventricular end-diastolic volume of 33.5 ml (90% of normal). Whole ascending aorta except sinus Valsalva was severely hypoplastic, so called diffuse type of supravalvular aortic stenosis. The ascending aorta was only 6.3 mm in diameter, whereas the diameter of the aortic annulus was 20.6 mm. The ascending aortic reconstruction of Doty's type was performed from the aortic root to the distal aortic arch with a equine pericardium reinforced by Dacron velour using selective perfusion to the right bracheocepharic artery, the left common carotid artery and the right femoral artery to avoid circulatory arrest. Postoperative course was uneventful and post operative catheterization revealed left ventricular pressure of 128 mmHg, the ascending aortic pressure of 126 mmHg and the descending aortic pressure of 90 mmHg. Mild residual pressure gradient was probably due to hypoplastic descending aorta. In conclusion, patch aortic reconstruction for ascending aorta under selective cerebral perfusion for a six-year old boy can be performed without postoperative neurological complication.
MINOR MESH HEADINGS: Aorta-surgery; Child-; Child,-Preschool; English-Abstract; Extracorporeal-Circulation; Methods-; Reconstructive-Surgical-Procedures
MAJOR MeSH HEADINGS: *Aorta-abnormalities; *Williams-Syndrome-surgery
CHECKTAGS: Case-Report; English-Abstract; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99012392
UPDATE CODE: 199902
Record 122 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: A novel human gene FKBP6 is deleted in Williams syndrome.
AUTHOR(S): Meng-X; Lu-X; Morris-CA; Keating-MT
ADDRESS OF AUTHOR: Howard Hughes Medical Institute, University of Utah, Salt Lake City, Utah, 84112, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1998 Sep 1; 52(2): 130-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams syndrome (WS) is a developmental disorder caused by haploinsufficiency of genes at 7q11.23. We have shown that hemizygosity of elastin is responsible for one feature of WS, supravalvular aortic stenosis. We have also implicated LIM-kinase 1 hemizygosity as a contributing factor to impaired visual-spatial constructive cognition in WS. Here we identify and characterize a novel gene, FKBP6, within the common WS deletion region. FKBP6 shows homology to the FK-506 binding protein (FKBP) class of immunophilins. FKBP6 has a putative N-terminal FK-506 binding and peptidylproyl isomerase (rotamase) domain and, like known high-molecular-weight FKBPs, an imperfect C-terminal tetratricopeptide repeat domain. FKBP6 is expressed in testis, heart, skeletal muscle, liver, and kidney. FKBP6 consists of nine exons and is completely contained within a 35-kb cosmid clone. Fluorescence in situ hybridization experiments show that FKBP6 gene is deleted in 40/40 WS individuals. Hemizygous deletion of FKBP6 may contribute to certain defects such as hypercalcemia and growth delay in WS. Copyright 1998 Academic Press.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Base-Sequence; Chromosome-Deletion; Chromosomes,-Human,-Pair-7-genetics; Exons-genetics; Gene-Deletion; Gene-Expression; Introns-genetics; Molecular-Sequence-Data; Physical-Chromosome-Mapping; Sequence-Alignment; Sequence-Analysis,-DNA; Sequence-Homology,-Amino-Acid
MAJOR MeSH HEADINGS: *Genes,-Structural-genetics; *Immunophilins-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: RO1HD29957HDNICHD; RO1NS3510201NSNINDS
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0
NAME OF SUBSTANCE: FKBP6-protein; Immunophilins
MEDLINE ACCESSION NUMBER: 99000831
UPDATE CODE: 199902
SECONDARY SOURCE IDENTIFIER: GENBANK/AF038847
Record 123 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Reading the windows to the soul: evidence of domain-specific sparing in Williams syndrome.
AUTHOR(S): Tager-Flusberg-H; Boshart-J; Baron-Cohen-S
ADDRESS OF AUTHOR: The Shriver Center, Department of Behavioral Sciences, Waltham, MA 02154, USA. htagerf@shriver.org
SOURCE (BIBLIOGRAPHIC CITATION): J-Cogn-Neurosci. 1998 Sep; 10(5): 631-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0898-929X
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: This study tested the hypothesis that Williams syndrome, a rare genetic neurodevelopmental disorder with an unusual cognitive phenotype, involves spared abilities in the domain of understanding other minds. A group of retarded adults with Williams syndrome was compared to an age-, IQ-, and language-matched group of adults with Prader-Willi syndrome, another genetic disorder without the cognitive characteristics of Williams syndrome, and a group of age-matched normal adults, on a task that taps mentalizing ability. The task involved selecting the correct labels to match photographs of complex mental state expressions in the eye region of the face. The adults with Williams syndrome performed significantly better than the adults with Prader-Willi on this task, and about half the group performed in the same range as the normal adults. These findings are consistent with anecdotal evidence about Williams syndrome and provide evidence that mentalizing is a distinct cognitive domain. This spared cognitive capacity may be linked to the relative sparing of limbic-cerebellar neural substrate in Williams syndrome, which is also connected to cortico-frontal regions that are known to be involved in understanding complex mental states.
MINOR MESH HEADINGS: Adult-; Intelligence-Tests; Mental-Retardation; Photography-; Prader-Willi-Syndrome-genetics; Reference-Values; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Cognition-; *Eye-; *Facial-Expression; *Intelligence-; *Language-; *Prader-Willi-Syndrome-psychology; *Williams-Syndrome-psychology
CHECKTAGS: Comparative-Study; Female; Human; Male; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: RO1HD33470HDNICHD
MEDLINE ACCESSION NUMBER: 99024108
UPDATE CODE: 199902
Record 124 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [The Williams-Campbell syndrome diagnosed in an adult female patient]
ORIGINAL TITLE: Sindrom Vil'iamsa-Kempbella, diagnostirovannyi u vzrosloi bol'noi.
AUTHOR(S): Demichev-SV; Malashenkov-VG
SOURCE (BIBLIOGRAPHIC CITATION): Klin-Med-Mosk. 1998; 76(7): 58-60
INTERNATIONAL STANDARD SERIAL NUMBER: 0023-2149
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: RUSSIAN; NON-ENGLISH
COUNTRY OF PUBLICATION: RUSSIA
MINOR MESH HEADINGS: Adult-; Bronchiectasis-diagnosis; Diagnosis,-Differential; Syndrome-
MAJOR MeSH HEADINGS: *Bronchi-abnormalities; *Bronchiectasis-congenital; *Cartilage-abnormalities
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98415209
UPDATE CODE: 199901
Record 125 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Family contexts, parental behaviour, and personality profiles of children and adolescents with Prader-Willi, fragile-X, or Williams syndrome.
AUTHOR(S): van-Lieshout-CF; De-Meyer-RE; Curfs-LM; Fryns-JP
ADDRESS OF AUTHOR: University of Nijmegen, The Netherlands. VANLIESHOUT@PSYCH.KUN.NL
SOURCE (BIBLIOGRAPHIC CITATION): J-Child-Psychol-Psychiatry. 1998 Jul; 39(5): 699-710
INTERNATIONAL STANDARD SERIAL NUMBER: 0021-9630
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: The personality profiles for youths with Prader-Willi, fragile-X, or Williams syndrome were compared to three matched groups attending regular schools. Using the California Child Q-Set (CCQ), both of the parents of the 39 children with Prader-Willi syndrome, 32 boys with fragile-X syndrome, 28 children with Williams syndrome, and children in the comparison groups provided independent personality descriptions in terms of the Big Five personality factors of Extraversion, Agreeableness, Conscientiousness, Emotional Stability, and Openness, along with Motor Activity and Irritability. Specific personality phenotypes for each of the three syndrome groups were found to be differentially related to parental behaviours (i.e. control and anger) and family contexts (i.e. experienced family stress, marital conflict, and parental consistency).
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child-Behavior-Disorders-diagnosis; Child-Behavior-Disorders-genetics; Child-Behavior-Disorders-psychology; Child,-Preschool; Fragile-X-Syndrome-genetics; Fragile-X-Syndrome-psychology; Personality-Disorders-genetics; Personality-Disorders-psychology; Personality-Inventory; Phenotype-; Prader-Willi-Syndrome-genetics; Prader-Willi-Syndrome-psychology; Q-Sort; Risk-Factors; Williams-Syndrome-genetics; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Family-Relations; *Fragile-X-Syndrome-diagnosis; *Parenting-psychology; *Personality-Disorders-diagnosis; *Prader-Willi-Syndrome-diagnosis; *Social-Environment; *Williams-Syndrome-diagnosis
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98353243
UPDATE CODE: 199901
Record 126 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Hemizygous deletion of the HPC-1/syntaxin 1A gene (STX1A) in patients with Williams syndrome.
AUTHOR(S): Nakayama-T; Matsuoka-R; Kimura-M; Hirota-H; Mikoshiba-K; Shimizu-Y; Shimizu-N; Akagawa-K
ADDRESS OF AUTHOR: Department of Physiology, Kyorin University School of Medicine, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Cytogenet-Cell-Genet. 1998; 82(1-2): 49-51
INTERNATIONAL STANDARD SERIAL NUMBER: 0301-0171
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: SWITZERLAND
ABSTRACT: HPC-1/syntaxin 1A is a membrane protein that plays an important role in exocytosis of neurotransmitters from neuronal cells. We previously mapped the human HPC-1/syntaxin 1A gene (STX1A) to chromosome 7q11.2, which is within the Williams syndrome (WS) region. Here, we performed FISH analysis on 46 patients with WS to examine the relationship between STX1A and WS. Our results showed a hemizygous deletion of the HPC-1/syntaxin 1A gene in each patient, suggesting that the neurological symptoms of WS may be related to the hemizygous deletion of STX1A.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; In-Situ-Hybridization,-Fluorescence; Infant-; Lymphocytes-
MAJOR MeSH HEADINGS: *Antigens,-Surface-genetics; *Gene-Deletion; *Nerve-Tissue-Proteins-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 147338-67-8
NAME OF SUBSTANCE: Antigens,-Surface; Nerve-Tissue-Proteins; HPC-1-antigen,-rat
MEDLINE ACCESSION NUMBER: 98438420
UPDATE CODE: 199901
Record 127 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Acquired coarctation of the aorta in William's syndrome.
AUTHOR(S): Dhillon-R; Reddy-TD; Redington-A
ADDRESS OF AUTHOR: Department of Paediatric Cardiology, Royal Brompton Hospital, London, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Heart. 1998 Aug; 80(2): 205-6
INTERNATIONAL STANDARD SERIAL NUMBER: 1355-6037
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
MINOR MESH HEADINGS: Aortic-Coarctation-radiography; Aortic-Coarctation-surgery; Aortography-; Child,-Preschool; Williams-Syndrome-radiography; Williams-Syndrome-surgery
MAJOR MeSH HEADINGS: *Aortic-Coarctation-etiology; *Williams-Syndrome-complications
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99031117
UPDATE CODE: 199901
SUBSET: AIM
Record 128 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Behavioral phenotypes: conceptual and methodological issues.
AUTHOR(S): Flint-J
ADDRESS OF AUTHOR: Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom. jf@worf.molbiol.ox.ac.uk
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1998 May 8; 81(3): 235-40
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Specific behavioral patterns associated with chromosomal and genetic disorders are being recognized more frequently. The hope is that the demonstration of a behavioral phenotype with a particular syndrome may lead to the isolation of the behavior's genetic determinants. Three issues are considered here: the problem of defining a behavioral phenotype, the difficulty of demonstrating the existence of a behavioral phenotype, and the likelihood of characterizing etiologically important genes. Although there are many impediments to success, the value of recognizing behavioral phenotypes within a diagnostic syndrome is emphasized, and examples are given of how this may lead to isolating behavioral genes.
MINOR MESH HEADINGS: Aggression-; Autistic-Disorder-genetics; Behavior,-Animal; Child-; Fragile-X-Syndrome-genetics; Phenotype-; Sample-Size; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Genetics,-Behavioral; *Hereditary-Diseases-genetics
CHECKTAGS: Animal; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98264774
UPDATE CODE: 199808
Record 129 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms.
AUTHOR(S): Mizugishi-K; Yamanaka-K; Kuwajima-K; Kondo-I
ADDRESS OF AUTHOR: Department of Pediatrics, Ibaraki Handicapped Children's Hospital, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): J-Hum-Genet. 1998; 43(3): 178-81
INTERNATIONAL STANDARD SERIAL NUMBER: 1434-5161
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: Interstitial deletion of 7q11.23-q21.11 was identified by cytogenetic methods in a 4-year-old boy with Williams syndrome (WS) and infantile spasms. Deletion of the elastin (ELN) gene and the DNA polymorphic markers, D7S1870, D7S2490, D7S2518, and D7S2421, were identified in the patient, but the loci for D7S653 and D7S675 were not involved. Zackowski et al. (1990) reported that 6 of 16 patients with the interstitial deletion of 7q11.2-q22 had abnormal electro encephalograms, or seizures, or both, and that infantile spasms were present in 2 of the 6 patients. WS is a well defined developmental disorder characterized by distinct facial features, gregarious personality, and congenital heart defects. Seizures are not generally associated with this syndrome. WS commonly is characterized by deletion of the loci for ELN and D7S1870, but not those for D7S2490, D7S2518, or D7S2421. This suggests that a gene responsible for infantile spasms is located in the 2.7-cM interval between loci D7S1870 and D7S675.
MINOR MESH HEADINGS: Child,-Preschool; Chromosome-Banding; Genetic-Markers; Karyotyping-; Pedigree-; Polymorphism-Genetics
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7; *Sequence-Deletion; *Spasms,-Infantile-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Genetic-Markers
MEDLINE ACCESSION NUMBER: 98419167
UPDATE CODE: 199812
Record 130 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Community care for adults with Williams syndrome: how families cope and the availability of support networks.
AUTHOR(S): Udwin-O; Howlin-P; Davies-M; Mannion-E
ADDRESS OF AUTHOR: Mary Sheridan Centre for Child Health, Lambeth Healthcare (NHS) Trust, London, England.
SOURCE (BIBLIOGRAPHIC CITATION): J-Intellect-Disabil-Res. 1998 Jun; 42 ( Pt 3): 238-45
INTERNATIONAL STANDARD SERIAL NUMBER: 0964-2633
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: A study of the adjustment difficulties and needs of 70 adults with Williams syndrome found that the majority continued to live at home and remained heavily dependent on their families for their self-care. Twenty-nine families (41.4%) had had no contact with a social worker in the preceding 2 years, and 34 out of the 48 families whose children still lived at home (70.8%) had no access to respite care. Advice regarding benefits, and appropriate living and occupational arrangements for the adults was also patchy. Despite progressive medical problems, and high rates of behavioural and emotional difficulties, only 20 adults (29%) were receiving regular health checks, while 21 (30%) had had some contact with a mental health service in the preceding 2 years. In the majority of cases, families continued to shoulder the main burden of care for their sons and daughters with Williams syndrome well into adulthood, with little support from statutory and voluntary agencies. The implications of these findings are considered with regard to the principles of community care.
MINOR MESH HEADINGS: Adult-; Questionnaires-
MAJOR MeSH HEADINGS: *Adaptation,-Psychological; *Community-Health-Services-standards; *Family-Health; *Mental-Retardation-complications; *Social-Support; *Williams-Syndrome-complications
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98341548
UPDATE CODE: 199812
Record 131 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Linguistic dissociations in Williams syndrome: evaluating receptive syntax in on-line and off-line tasks.
AUTHOR(S): Karmiloff-Smith-A; Tyler-LK; Voice-K; Sims-K; Udwin-O; Howlin-P; Davies-M
ADDRESS OF AUTHOR: MRC Cognitive Development Unit and University College, London, UK. annette@cdu.ucl.ac.uk
SOURCE (BIBLIOGRAPHIC CITATION): Neuropsychologia. 1998 Apr; 36(4): 343-51
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3932
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Williams syndrome (WS) is a neurodevelopmental disorder of genetic origin which results in relatively spared language in the face of serious non-verbal deficits. There is controversy, however, about how intact WS language abilities are. The discussion has focused on impairments of lexico-semantics and of morphological feature analysis, with the presumption that WS syntax is intact. We challenged this view and assessed WS receptive syntax by using two tasks testing various syntactic structures: an on-line word monitoring task and an off-line picture-pointing task. WS performance on the off-line task was generally poor. By contrast, their performance on the on-line task was far better and allowed us to ascertain precisely which aspects of WS receptive syntax are preserved and which are impaired. WS participants were sensitive to the violation of auxiliary markers and phrase structure rules but, unlike both the normal young and elderly controls, they did not show sensitivity to violations of subcategory constraints. The present study suggests that there exist dissociations within WS language which are not restricted to lexico-semantics or to morphological feature analysis, but which also invade their processing of certain syntactic structures. We conclude by arguing that WS syntax is not intact and that their language might turn out to be more like second language learning than normal acquisition.
MINOR MESH HEADINGS: Adolescence-; Adult-; Aged-; Analysis-of-Variance; Case-Control-Studies; Language-Disorders-physiopathology; Reaction-Time; Speech-Perception-physiology; Time-Factors
MAJOR MeSH HEADINGS: *Language-Disorders-classification; *Language-Tests; *Linguistics-; *Williams-Syndrome-physiopathology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98328582
UPDATE CODE: 199812
Record 132 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Genetic aspects of supravalvular aortic stenosis.
AUTHOR(S): Morris-CA
ADDRESS OF AUTHOR: Department of Pediatrics, University of Nevada School of Medicine, Las Vegas 89102, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Curr-Opin-Cardiol. 1998 May; 13(3): 214-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0268-4705
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Supravalvular aortic stenosis (SVAS) occurs as an autosomal dominant trait or as part of the phenotype of the usually sporadic condition Williams syndrome. SVAS is the result of mutation or deletion of the elastin gene (ELN), located at chromosome 7q11.23. Thus, SVAS may be more appropriately termed an elastin arteriopathy. Studies have demonstrated various point mutations and intragenic deletions of ELN resulting in nonsyndromic SVAS. Individuals with Williams syndrome are hemizygous for the elastin gene, owing to a 1 to 2 megabase deletion of a portion of the long arm of chromosome 7 that encompasses ELN. This submicroscopic deletion is readily detected by fluorescent in-situ hybridization, useful in the diagnosis of Williams syndrome. The severity of SVAS is quite variable, both in series of Williams syndrome patients and within SVAS kindreds, suggesting that other genetic factors are involved in expression of the phenotype. Experiments with elastin knockout mice will likely yield clues regarding the role of elastin in arterial morphogenesis and the pathogenesis of obstructive vascular disease.
MINOR MESH HEADINGS: Chromosome-Deletion; Chromosomes,-Human,-Pair-7; DNA-Mutational-Analysis; Elastin-genetics; Gene-Expression-physiology; Mice-; Phenotype-; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-genetics; *Chromosome-Abnormalities-genetics; *Genes,-Dominant-genetics
CHECKTAGS: Animal; Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3
NAME OF SUBSTANCE: Elastin
MEDLINE ACCESSION NUMBER: 98313631
UPDATE CODE: 199812
Record 133 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Cognitive functioning in adults with Williams syndrome.
AUTHOR(S): Howlin-P; Davies-M; Udwin-O
ADDRESS OF AUTHOR: Department of Psychology, St George's Hospital Medical School, London, U.K.
SOURCE (BIBLIOGRAPHIC CITATION): J-Child-Psychol-Psychiatry. 1998 Feb; 39(2): 183-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0021-9630
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: This paper reports the results of cognitive, linguistic, and academic assessments in a representative sample of 62 adults with Williams syndrome. The average age of the group was 26 years and their mean full scale IQ was 61. Differences between Verbal and Performance IQ, and between receptive and expressive language skills, were smaller than generally found in studies of children with this condition. However, an examination of subtest scores revealed an almost identical cognitive profile to that found in children. Skills in other areas, such as reading, spelling, arithmetic, and social adaptation remained at a low level, with functioning generally being around a 6-8-year age equivalent. The consistency of reports on intellectual abilities in both child and adult studies of individuals with Williams syndrome lends increased support to the notion of a syndrome specific pattern of cognitive, linguistic, and adaptive functioning.
MINOR MESH HEADINGS: Adolescence-; Adult-; Educational-Status
MAJOR MeSH HEADINGS: *Cognition-; *Intelligence-; *Williams-Syndrome-psychology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98333838
UPDATE CODE: 199811
Record 134 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Persistent left superior vena cava [letter; comment]
COMMENTS: Comment on: Tex Heart Inst J 1998;25(1):90
AUTHOR(S): Del-Campo-C
SOURCE (BIBLIOGRAPHIC CITATION): Tex-Heart-Inst-J. 1998; 25(2): 161
INTERNATIONAL STANDARD SERIAL NUMBER: 0730-2347
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Adult-; Echocardiography-; Heart-Valve-Prosthesis-Implantation; Mitral-Valve; Phlebography-; Vena-Cava,-Superior-radiography; Vena-Cava,-Superior-ultrasonography; Williams-Syndrome-diagnosis; Williams-Syndrome-surgery
MAJOR MeSH HEADINGS: *Catheterization,-Central-Venous; *Vena-Cava,-Superior-abnormalities
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: COMMENT; LETTER
MEDLINE ACCESSION NUMBER: 98318735
UPDATE CODE: 199811
Record 135 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.
AUTHOR(S): Baumer-A; Dutly-F; Balmer-D; Riegel-M; Tukel-T; Krajewska-Walasek-M; Schinzel-AA
ADDRESS OF AUTHOR: Institute for Medical Genetics, University of Zurich, CH-8001 Zurich, Switzerland. baumer@medgen.unizh.ch
SOURCE (BIBLIOGRAPHIC CITATION): Hum-Mol-Genet. 1998 May; 7(5): 887-94
INTERNATIONAL STANDARD SERIAL NUMBER: 0964-6906
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Interstitial chromosomal deletions at 22q11.2 and 7q11.23 are detected in the vast majority of patients affected by CATCH 22 syndromes and the Williams-Beuren syndrome, respectively. In a group of 15 Williams-Beuren patients, we have shown previously that a large number of 7q11.23 deletions occur in association with an interchromosomal rearrangement, indicative of an unequal crossing-over event between the two homologous chromosomes 7. In this study, we show that a similar mechanism also underlies the formation of the 22q11.2 deletions associated with CATCH 22. In eight out of 10 families with a proband affected by CATCH 22, we were able to show that a meiotic recombination had occurred at the critical deleted region based on segregation analysis of grandparental haplotypes. The incidences of crossovers observed between the closest informative markers, proximal and distal to the deletion, were compared with the expected recombination frequencies between the markers. A significant number of recombination events occur at the breakpoint of deletions in CATCH 22 patients (P = 2.99x10(-7)). The segregation analysis of haplotypes in three-generation families was also performed on an extended number of Williams-Beuren cases (22 cases in all). The statistically significant occurrence of meiotic crossovers (P = 4.45x10(-9)) further supports the previous findings. Thus, unequal meiotic crossover events appear to play a relevant role in the formation of the two interstitial deletions. The recurrence risk for healthy parents in cases where such meiotic recombinations can be demonstrated is probably negligible. Such a finding is in agreement with the predominantly sporadic occurrence of the 22q11.2 and 7q11. 23 deletions. No parent-of-origin bias was observed in the two groups of patients with regard to the origin of the deletion and to the occurrence of inter- versus intrachromosomal rearrangements.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Haplotypes-; Pedigree-; Risk-Factors; Translocation-Genetics-genetics; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-22-genetics; *Chromosomes,-Human,-Pair-7-genetics; *Crossing-Over-Genetics-genetics; *Meiosis-genetics
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98204814
UPDATE CODE: 199810
Record 136 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.
AUTHOR(S): Wu-YQ; Sutton-VR; Nickerson-E; Lupski-JR; Potocki-L; Korenberg-JR; Greenberg-F; Tassabehji-M; Shaffer-LG
ADDRESS OF AUTHOR: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1998 Jun 16; 78(1): 82-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams syndrome (WS) is a neurodevelopmental disorder with a variable phenotype. Molecular genetic studies have indicated that hemizygosity at the elastin locus (ELN) may account for the cardiac abnormalities seen in WS, but that mental retardation and hypercalcemia are likely caused by other genes flanking ELN. In this study, we defined the minimal critical deletion region in 63 patients using 10 microsatellite markers and 5 fluorescence in situ hybridization (FISH) probes on chromosome 7q, flanking ELN. The haplotype analyses showed the deleted cases to have deletions of consistent size, as did the FISH analyses using genomic probes for the known ends of the commonly deleted region defined by the satellite markers. In all informative cases deleted at ELN, the deletion extends from D7S489U to D7S1870. The genetic distance between these two markers is about 2 cM. Of the 51 informative patients with deletions, 29 were maternal and 22 were paternal in origin. There was no evidence for effects on stature by examining gender, ethnicity, cardiac status, or parental origin of the deletion. Heteroduplex analysis for LIMK1, a candidate gene previously implicated in the WS phenotype, did not show any mutations in our WS patients not deleted for ELN. LIMK1 deletions were found in all elastin-deletion cases who had WS. One case, who has isolated, supravalvular aortic stenosis and an elastin deletion, was not deleted for LIMK1. It remains to be determined if haploinsufficiency of LIMK1 is responsible in part for the WS phenotype or is simply deleted due to its close proximity to the elastin locus.
MINOR MESH HEADINGS: DNA-analysis; DNA-Mutational-Analysis; In-Situ-Hybridization,-Fluorescence; Sequence-Deletion; Williams-Syndrome-ethnology; Williams-Syndrome-physiopathology
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7; *Elastin-genetics; *Growth-Disorders-genetics; *Heart-Defects,-Congenital-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: RO3HD35112HDNICHD; PO1HD33113HDNICHD
CAS REGISTRY NUMBER OR EC NUMBER: 9007-49-2; 9007-58-3
NAME OF SUBSTANCE: DNA; Elastin
MEDLINE ACCESSION NUMBER: 98299543
UPDATE CODE: 199810
Record 137 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Occurrence of cancer in a cohort of 183 persons with constitutional chromosome 7 abnormalities.
AUTHOR(S): Hasle-H; Olsen-JH; Hansen-J; Friedrich-U; Tommerup-N
ADDRESS OF AUTHOR: Department of Pediatrics, Aarhus University Hospital, Denmark.
SOURCE (BIBLIOGRAPHIC CITATION): Cancer-Genet-Cytogenet. 1998 Aug; 105(1): 39-42
INTERNATIONAL STANDARD SERIAL NUMBER: 0165-4608
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Cytogenetic abnormalities in human malignancies frequently involve chromosome 7. The existence of several tumor suppressor genes on the long arm of chromosome 7 has been suggested in both epithelial and hematologic malignancies. From the Danish Cytogenetic Register, we identified 183 persons with constitutional abnormalities involving chromosome 7, including 16 patients with Williams syndrome. By linkage to the Danish Cancer Registry, we found five persons with cancer, including one thyroid carcinoma, three carcinomas of the digestive tract, and one malignant melanoma. There were no cases of leukemia. The overall risk of developing cancer was not increased.
MINOR MESH HEADINGS: Adult-; Aged-; Chromosome-Abnormalities-epidemiology; Cohort-Studies; Denmark-epidemiology; Follow-Up-Studies; Genes,-Suppressor,-Tumor-genetics; Karyotyping-; Middle-Age; Risk-
MAJOR MeSH HEADINGS: *Chromosome-Abnormalities-genetics; *Chromosomes,-Human,-Pair-7-genetics; *Neoplasms-genetics
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 98354366
UPDATE CODE: 199810
Record 138 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Verbal and nonverbal abilities in the Williams syndrome phenotype: evidence for diverging developmental trajectories.
AUTHOR(S): Jarrold-C; Baddeley-AD; Hewes-AK
ADDRESS OF AUTHOR: Department of Experimental Psychology, University of Bristol, U.K.
SOURCE (BIBLIOGRAPHIC CITATION): J-Child-Psychol-Psychiatry. 1998 May; 39(4): 511-23
INTERNATIONAL STANDARD SERIAL NUMBER: 0021-9630
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: One commonly cited feature of Williams syndrome is a characteristic dissociation between relatively spared language skills and severely impaired nonverbal abilities. However, the actual evidence for a dissociation between verbal and nonverbal abilities in Williams syndrome is equivocal. In two separate studies we examined these abilities in 16 individuals showing the Williams syndrome phenotype. When considered as a whole, the group did have significantly superior verbal abilities, but this difference was caused by a large discrepancy in abilities in only a small number of individuals. In both studies there was a clear, linear relation between individuals' verbal ability, and the magnitude of their verbal-nonverbal discrepancy. We suggest that these results are best explained in terms of verbal ability developing at a faster rate than nonverbal ability in this disorder. We discuss how this model of differential rates of development has the potential to reconcile the apparently inconsistent findings in this area.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Hypercalcemia-diagnosis; Hypercalcemia-genetics; Hypercalcemia-psychology; Individuality-; Intelligence-genetics; Language-Development-Disorders-diagnosis; Language-Development-Disorders-psychology; Learning-Disorders-diagnosis; Learning-Disorders-psychology; Wechsler-Scales; Williams-Syndrome-diagnosis; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Aptitude-; *Language-Development-Disorders-genetics; *Learning-Disorders-genetics; *Phenotype-; *Verbal-Behavior; *Williams-Syndrome-genetics
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98262513
UPDATE CODE: 199810
Record 139 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: A highly polymorphic CA/GT repeat (LIMK1GT) within the Williams syndrome critical region.
AUTHOR(S): Mari-A; Amati-F; Conti-E; Bengala-M; Novelli-G; Dallapiccola-B
ADDRESS OF AUTHOR: Department of Public Health and Cell Biology Tor Vergata University and Institute C.S.S.-Mendel, Rome, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Genet. 1998 Mar; 53(3): 226-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9163
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: DENMARK
MINOR MESH HEADINGS: Alleles-; Base-Sequence; Chromosome-Mapping; Chromosomes,-Human,-Pair-7; DNA-Primers; Gene-Frequency; Genotype-; Polymerase-Chain-Reaction
MAJOR MeSH HEADINGS: *Polymorphism-Genetics; *Repetitive-Sequences,-Nucleic-Acid; *Williams-Syndrome-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: DNA-Primers
MEDLINE ACCESSION NUMBER: 98292033
UPDATE CODE: 199810
Record 140 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Why should neurologists be interested in Williams syndrome? [editorial; comment]
COMMENTS: Comment on: Neurology 1998 Jul;51(1):33-40
AUTHOR(S): Rossen-ML; Sarnat-HB
SOURCE (BIBLIOGRAPHIC CITATION): Neurology. 1998 Jul; 51(1): 8-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Knowledge,-Attitudes,-Practice; Neurology-
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7; *Gene-Deletion; *Williams-Syndrome-genetics; *Williams-Syndrome-physiopathology
CHECKTAGS: Human
PUBLICATION TYPE: COMMENT; EDITORIAL
MEDLINE ACCESSION NUMBER: 98337525
UPDATE CODE: 199810
SUBSET: AIM
Record 141 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Brain biochemistry in Williams syndrome: evidence for a role of the cerebellum in cognition? [see comments]
COMMENTS: Comment in: Neurology 1998 Jul;51(1):8-9. Comment in: Neurology 1999 Mar 10;52(4):898-9
AUTHOR(S): Rae-C; Karmiloff-Smith-A; Lee-MA; Dixon-RM; Grant-J; Blamire-AM; Thompson-CH; Styles-P; Radda-GK
ADDRESS OF AUTHOR: MRC Biochemical and Clinical Magnetic Resonance Unit, John Radcliffe Hospital, Oxford, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Neurology. 1998 Jul; 51(1): 33-40
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVE: To determine what biochemical changes may occur in the brain in Williams syndrome (WS) and whether these changes may be related to the cognitive deficits. BACKGROUND: WS is a rare, congenital disorder with a characteristic physical, linguistic, and behavioral phenotype with known cognitive deficits. METHODS: We obtained 31P magnetic resonance spectra (MRS) from a region consisting of mostly frontal and parietal lobe of 14 patients with WS (age, 8 to 37 years) and 48 similarly-aged controls. 1H MRS (27 cm3) localized to the left cerebellum obtained from the WS cohort were compared with those from 16 chronological age- and sex-matched normal controls. A battery of cognitive tests were administered to all subjects undergoing 1H MRS. RESULTS: WS brains exhibited significant biochemical abnormalities. All 31P MRS ratios containing the phosphomonoester (PME) peak were significantly altered in WS, suggesting that PME is significantly decreased. Ratios of choline-containing compounds and creatine-containing compounds to N-acetylaspartate (Cho/NA and Cre/NA) were significantly elevated in the cerebellum in WS cf. controls, whereas the ratio of Cho/Cre was not altered. This suggests a decrease in the neuronal marker N-acetylaspartate in the cerebellum. Significant correlations were found between the cerebellar ratios Cho/NA and Cre/NA and the ability of all subjects at various neuropsychological tests, including Verbal and Performance IQ, British Picture Vocabulary Scale, Ravens Progressive Matrices, and Inspection Time. CONCLUSIONS: The correlations can be interpreted in two ways: 1) Our sampling of cerebellar biochemistry reflects a measure of "global" cerebral biochemistry and is unrelated to cerebellar function, or 2) The relations indicate that cerebellar neuronal integrity is a requirement (on a developmental time scale or in real-time) for ability on a variety of cognitive tests.
MINOR MESH HEADINGS: Adenosine-Triphosphate-analysis; Adolescence-; Adult-; Cerebellum-chemistry; Child-; Ethanolamines-analysis; Frontal-Lobe-chemistry; Glycerophosphates-analysis; Hexosephosphates-analysis; Inositol-Phosphates-analysis; Neuropsychological-Tests; Nuclear-Magnetic-Resonance; Parietal-Lobe-chemistry; Phosphocreatine-analysis; Phosphorus-Radioisotopes-diagnostic-use; Phosphorylcholine-analysis; Phosphoserine-analysis; Protons-; Williams-Syndrome-metabolism; Williams-Syndrome-radionuclide-imaging
MAJOR MeSH HEADINGS: *Brain-Chemistry; *Cerebellum-physiology; *Cognition-physiology; *Williams-Syndrome-physiopathology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 0; 0; 107-73-3; 1071-23-4; 15421-51-9; 17885-08-4; 56-65-5; 57-03-4; 67-07-2
NAME OF SUBSTANCE: Ethanolamines; Glycerophosphates; Hexosephosphates; Inositol-Phosphates; Phosphorus-Radioisotopes; Protons; Phosphorylcholine; phosphorylethanolamine; inositol-1-phosphate; Phosphoserine; Adenosine-Triphosphate; alpha-glycerophosphoric-acid; Phosphocreatine
MEDLINE ACCESSION NUMBER: 98337532
UPDATE CODE: 199810
SUBSET: AIM
Record 142 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Actin, cofilin and cognition [news; comment]
COMMENTS: Comment on: Nature 1998 Jun 25;393(6687):805-9. Comment on: Nature 1998 Jun 25;393(6687):809-12
AUTHOR(S): Rosenblatt-J; Mitchison-TJ
SOURCE (BIBLIOGRAPHIC CITATION): Nature. 1998 Jun 25; 393(6687): 739-40
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-0836
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
MINOR MESH HEADINGS: Actins-metabolism; Cell-Movement-physiology; DNA-Binding-Proteins-genetics; Microfilament-Proteins-metabolism; Phosphorylation-; Polymers-; Protein-Serine-Threonine-Kinases-genetics; Williams-Syndrome-genetics; Williams-Syndrome-metabolism
MAJOR MeSH HEADINGS: *Actins-physiology; *Cognition-physiology; *DNA-Binding-Proteins-metabolism; *Microfilament-Proteins-physiology; *Protein-Serine-Threonine-Kinases-metabolism
CHECKTAGS: Human
PUBLICATION TYPE: COMMENT; NEWS
CAS REGISTRY NUMBER OR EC NUMBER: EC 2.7.10; 0; 0; 0; 0; 0; 0
NAME OF SUBSTANCE: Protein-Serine-Threonine-Kinases; cofilin; Actins; DNA-Binding-Proteins; Kiz-1-protein; Microfilament-Proteins; Polymers
MEDLINE ACCESSION NUMBER: 98318094
UPDATE CODE: 199809
Record 143 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Adults with Williams syndrome. Preliminary study of social, emotional and behavioural difficulties [see comments]
COMMENTS: Comment in: Br J Psychiatry 1998 Sep;173:268-9
AUTHOR(S): Davies-M; Udwin-O; Howlin-P
ADDRESS OF AUTHOR: Psychology Department, St George's Hospital Medical School, London.
SOURCE (BIBLIOGRAPHIC CITATION): Br-J-Psychiatry. 1998 Mar; 172: 273-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0007-1250
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: BACKGROUND: In recent years there has been an upsurge of interest in the study of distinctive patterns of behavioural and psychological characteristics associated with specific, biologically determined, intellectually disabling conditions. This study investigates whether such a profile can be identified in adults with Williams syndrome. METHOD: Parents and other care-givers were interviewed about the social, emotional and behavioural characteristics of 70 adults with Williams syndrome, aged 19 years to 39 years 9 months. RESULTS: The adults were reported to have high rates of behavioural and emotional difficulties, particularly in terms of poor social relationships, over-friendliness and social disinhibition, preoccupations and obsessions, and high levels of anxiety and distractibility. CONCLUSIONS: The findings provide preliminary support for the existence of a specific pattern of behavioural and personality characteristics and associated difficulties in adults with Williams syndrome, which persist from childhood and often require intervention from mental health professionals. Implications for clinical practice are considered.
MINOR MESH HEADINGS: Adolescence-; Adult-; Affective-Symptoms-etiology; Anxiety-etiology; Attention-; Behavioral-Symptoms-etiology; Mood-Disorders-etiology; Obsessive-Compulsive-Disorder-etiology; Referral-and-Consultation; Social-Behavior-Disorders-etiology
MAJOR MeSH HEADINGS: *Williams-Syndrome-psychology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98276663
UPDATE CODE: 199808
Record 144 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Persistent left superior vena cava. Discovered during placement of central venous catheter [see comments]
COMMENTS: Comment in: Tex Heart Inst J 1998;25(2):161
AUTHOR(S): Chandra-A; Reul-GJ Jr
ADDRESS OF AUTHOR: Department of Cardiovascular Surgery, Texas Heart Institute, Houston 77030, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Tex-Heart-Inst-J. 1998; 25(1): 90
INTERNATIONAL STANDARD SERIAL NUMBER: 0730-2347
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Adult-; Echocardiography-; Heart-Valve-Prosthesis-Implantation; Mitral-Valve; Phlebography-; Subclavian-Vein; Vena-Cava,-Superior-radiography; Vena-Cava,-Superior-ultrasonography; Williams-Syndrome-diagnosis; Williams-Syndrome-surgery
MAJOR MeSH HEADINGS: *Catheterization,-Central-Venous; *Vena-Cava,-Superior-abnormalities
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98227196
UPDATE CODE: 199808
Record 145 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region.
AUTHOR(S): Wang-YK; Perez-Jurado-LA; Francke-U
ADDRESS OF AUTHOR: Howard Hughes Medical Institute, Stanford University Medical Center, California 94305, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1998 Mar 1; 48(2): 163-70
INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We have cloned and characterized Gtf2i, the mouse homolog of human GTF2I (general transcription factor II-I), which encodes BAP-135, a target for Bruton's tyrosine kinase. GTF2I represents the telomeric and functional copy of a duplicated gene flanking the 2-Mb Williams-Beuren syndrome (WBS) common deletion at 7q11.23. GTF2I is deleted in WBS, while a truncated centromeric pseudogene (GTF2IP1) is not deleted. In mouse, there appears to be only a single locus, Gtf2i, which we mapped to mouse chromosome 5 in a region of conserved mouse-human synteny. Gtf2i is 87.7% identical to GTF2I at the nucleotide and 97% at the amino acid level and generates several alternatively spliced transcripts. The gene is widely expressed in adult tissues and equally in all areas of the brain. Gtf2i transcript is detectable in ES cells by RT-PCR and on Northern blots of tissues from 7-dpc embryos. A ubiquitous expression pattern is seen by Northern and tissue in situ hybridization studies of 14-dpc embryos.
MINOR MESH HEADINGS: Alternative-Splicing; Amino-Acid-Sequence; Cell-Line; Chromosome-Mapping; Conserved-Sequence; Embryo-; Gene-Expression-Regulation; Macaca-; Mice-; Molecular-Sequence-Data; Organ-Specificity-genetics; Phosphoproteins-biosynthesis; Stem-Cells-cytology; Transcription-Factors-biosynthesis; Transcription,-Genetic
MAJOR MeSH HEADINGS: *Gene-Deletion; *Phosphoproteins-genetics; *Sequence-Homology,-Amino-Acid; *Transcription-Factors-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Animal; Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: R01HG00298HGNHGRI
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0
NAME OF SUBSTANCE: BAP-135-protein; Phosphoproteins; Transcription-Factors
MEDLINE ACCESSION NUMBER: 98190515
UPDATE CODE: 199808
SECONDARY SOURCE IDENTIFIER: GENBANK/AF017085
Record 146 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [William's syndrome. Report of a case with family involvement]
ORIGINAL TITLE: Sindrome de Williams. Presentacion de un caso de afectacion familiar.
AUTHOR(S): Onis-Vilches-MC; Rubio-Cuadrado-MV; Martinez-de-la-Iglesia-J; Lopez-Granados-A
ADDRESS OF AUTHOR: Centro de Salud Occidente, Hospital Universitario Reina Sofia, Cordoba.
SOURCE (BIBLIOGRAPHIC CITATION): Rev-Clin-Esp. 1998 Feb; 198(2): 91-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0014-2565
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: SPANISH; NON-ENGLISH
COUNTRY OF PUBLICATION: SPAIN
ABSTRACT: Williams' syndrome (WS) is a rare genetic condition of autosomal dominant inheritance with varying penetrance, which consists of supravalvular aortic stenosis, a characteristic dysmorphic facies named "elf face", mental retardation and other clinical manifestations including transient infantile idiopathic hypercalcemia, growth retardation, and frequent dental problems. It usually presents sporadically, and there are only a few cases of family involvement reported in the literature. Recent studies show that mutations in the elastin gene at chromosome 7q11.23, which occur approximately in 90% of cases, could be the cause of the different clinical manifestations in this syndrome. In this paper we report a case of family involvement with five family members involved with WS (three siblings, the mother, and the siblings' maternal uncle) and all had cardiac structural disorders (supravalvular aortic stenosis being the most frequent), a characteristic face and a low intellectual coefficient. The complementary tests included blood chemistry, chest X-ray, and echocardiogram, which led to the diagnosis of the associated valve pathology. Three patients required therapeutic catheterism with Stent valve implant and valve prosthetic replacement to control cardiac manifestations.
MINOR MESH HEADINGS: English-Abstract; Pedigree-
MAJOR MeSH HEADINGS: *Williams-Syndrome-genetics
CHECKTAGS: Case-Report; English-Abstract; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98219636
UPDATE CODE: 199808
Record 147 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Molecular mechanisms of developmental disorders.
AUTHOR(S): Brodsky-M; Lombroso-PJ
ADDRESS OF AUTHOR: Yale University School of Medicine, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Dev-Psychopathol. 1998 Winter; 10(1): 1-20
INTERNATIONAL STANDARD SERIAL NUMBER: 0954-5794
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: One of the central tenets of developmental psychopathology is the belief that we can learn more about normal functioning through the study of psychopathology and arrive at a better understanding of pathological conditions through investigations of normal behavior. Advances in knowledge from one area will inform us regarding mechanisms at work in the other. A similar perspective is the driving force behind recent scientific advances in our understanding of certain developmental disorders. In this paper, molecular findings for four developmental disorders are reviewed: Prader-Willi syndrome, fragile X syndrome, Williams syndrome, and lissencephaly. These disorders were chosen for discussion because putative genes for each of them have been isolated. The ways in which mutations within these genes disrupt normal cognitive and behavioral functioning are discussed. Although considerable progress has been achieved in understanding the genetic mechanisms for these illnesses, much more research is needed to identify the environmental and genetic factors that interact to contribute to the expression of the more complex behavioral disorders.
MINOR MESH HEADINGS: Brain-Damage,-Chronic-diagnosis; Brain-Damage,-Chronic-genetics; Child-; Child-Behavior-Disorders-diagnosis; Chromosome-Mapping; Delirium,-Dementia,-Amnestic,-Cognitive-Disorders-diagnosis; Developmental-Disabilities-diagnosis; DNA-Mutational-Analysis; Fragile-X-Syndrome-diagnosis; Fragile-X-Syndrome-genetics; Prader-Willi-Syndrome-diagnosis; Prader-Willi-Syndrome-genetics; Williams-Syndrome-diagnosis; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Child-Behavior-Disorders-genetics; *Delirium,-Dementia,-Amnestic,-Cognitive-Disorders-genetics; *Developmental-Disabilities-genetics; *Gene-Expression-Regulation,-Developmental-physiology
CHECKTAGS: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CONTRACT OR GRANT NUMBERS: MH52711MHNIMH; NS35989NSNINDS
MEDLINE ACCESSION NUMBER: 98185493
UPDATE CODE: 199808
Record 148 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: FISH analysis in patients with clinical diagnosis of Williams syndrome.
AUTHOR(S): Elcioglu-N; Mackie-Ogilvie-C; Daker-M; Berry-AC
ADDRESS OF AUTHOR: Division of Medical and Molecular Genetics, UMDS, Guy's Hospital, London, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Acta-Paediatr. 1998 Jan; 87(1): 48-53
INTERNATIONAL STANDARD SERIAL NUMBER: 0803-5253
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: NORWAY
ABSTRACT: Williams syndrome is a rare neurodevelopmental disorder with variable phenotypic expression and a contiguous gene syndrome caused by deletion of the elastin gene. In our study, hemizygosity at the elastin locus was investigated using FISH analyses in 16 sporadic cases with a firm clinical diagnosis of Williams syndrome, and the characteristic features were evaluated. Fourteen patients were found to have deletions; 2 further patients did not have deletions of the elastin gene, but did have the clinical features. The presence of two copies of the elastin gene locus in a patient does not rule out Williams syndrome as a diagnosis. Since deletion of the elastin gene, which continues to be a useful confirmatory diagnostic test, cannot account for several features found in Williams syndrome, the non-deletion patients will be valuable in further delineation of the critical region responsible for the Williams syndrome phenotype.
MINOR MESH HEADINGS: Child-; Child,-Preschool; Diagnosis,-Differential; Evaluation-Studies; Gene-Deletion; Gene-Frequency; Genetic-Screening; Infant-; Infant,-Newborn; Photography-; Sensitivity-and-Specificity
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7; *DNA-Binding-Proteins-genetics; *Elastin-genetics; *In-Situ-Hybridization,-Fluorescence; *Williams-Syndrome-diagnosis; *Williams-Syndrome-genetics
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-MULTICASE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 9007-58-3
NAME OF SUBSTANCE: DNA-Binding-Proteins; Elastin
MEDLINE ACCESSION NUMBER: 98169269
UPDATE CODE: 199807
Record 149 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK.
AUTHOR(S): Perez-Jurado-LA; Wang-YK; Peoples-R; Coloma-A; Cruces-J; Francke-U
ADDRESS OF AUTHOR: Unidad de Gen-etica, Hospital Ni-no Jes-us, Madred, Spain. Stanford University Medical Center,
SOURCE (BIBLIOGRAPHIC CITATION): Hum-Mol-Genet. 1998 Mar; 7(3): 325-34
INTERNATIONAL STANDARD SERIAL NUMBER: 0964-6906
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder with multisystemic manifestations caused by heterozygosity for a partial deletion of chromosome band 7q11.23. The breakpoints cluster within regions located approximately 1 cM either side of the elastin (ELN) locus. We have characterized a duplicated region near the common deletion breakpoints, which includes a transcribed gene. The centromeric (C) and telomeric (T) copies are almost identical in the duplicated 3[prime] portions but diverge at their 5[prime]-ends. C-specific 4.3 kb mRNA and T-specific 5.4 kb mRNA are widely expressed in embryonic and adult tissues. The telomeric gene gives rise to several alternatively spliced forms and is deleted in all WBS individuals who have documented ELN deletions. Database searches revealed that this gene encodes BAP-135, a protein phosphorylated by Bruton's tyrosine kinase in B cells, as well as the multifunctional transcription factor TFII-I, hence the gene name GTF2I. The centromeric gene is not deleted in WBS and appears to be a partially truncated expressed pseudogene with no protein product (gene name GTF2IP1). Both loci map to different genomic clone contigs that also contain other deleted and non-deleted loci. A probe from the shared region recognizes a >3 Mb Not I junction fragment that is unique to individuals with the WBS deletion. Therefore, the duplicated region containing GTF2I and GTF2IP1 respectively is located close to the deletion breakpoints and may predispose to unequal meiotic recombination between chromosome 7 homologs and/or to intrachromosomal rearrangements. Hemizygosity for GTF2I may also contribute to the WBS phenotype.
MINOR MESH HEADINGS: Adult-; Amino-Acid-Sequence; Base-Sequence; Centromere-genetics; Chromosome-Banding; Chromosome-Mapping; Elastin-genetics; Exons-; Genetic-Markers; Heterozygote-; Molecular-Sequence-Data; Organ-Specificity; Phosphorylation-; Polymerase-Chain-Reaction; Pseudogenes-; Repetitive-Sequences,-Nucleic-Acid; Sequence-Alignment; Sequence-Homology,-Amino-Acid; Transcription,-Genetic
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7; *DNA-Binding-Proteins-genetics; *Gene-Deletion; *Multigene-Family; *Phosphoproteins-genetics; *Protein-Tyrosine-Kinase-metabolism; *Transcription-Factors-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: EC 2.7.1.-; EC 2.7.1.112; 0; 0; 0; 0; 0; 0; 9007-58-3
NAME OF SUBSTANCE: btk-protein; Protein-Tyrosine-Kinase; BAP-135-protein; DNA-Binding-Proteins; Genetic-Markers; Phosphoproteins; Transcription-Factors; TFII-I; Elastin
MEDLINE ACCESSION NUMBER: 98133909
UPDATE CODE: 199806
SECONDARY SOURCE IDENTIFIER: GENBANK/AF035737; GENBANK/AF036613; GENBANK/AF038967; GENBANK/AF038968; GENBANK/AF038969
Record 150 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Mapping of the human cysteine-rich intestinal protein gene CRIP1 to the human chromosomal segment 7q11.23.
AUTHOR(S): Garcia-Barcelo-M; Tsui-SKW; Chim-SS; Fung-KP; Lee-CY; Waye-MM
ADDRESS OF AUTHOR: Basic Medical Sciences Building, The Chinese University of Hong Kong, Shatin, N.T., Hong Kong.
SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1998 Feb 1; 47(3): 419-22
INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We report here on the mapping of a cDNA encoding for human cysteine-rich heart protein (HCRHP), a counterpart of the murine cysteine-rich intestinal protein CRIP. By somatic cell hybrid analysis and radiation hybrid mapping, we have located the gene CRIP1 (HGMW-approved symbol) on the subcentromeric region of the q arm of human chromosome 7, flanking a deletion associated with Williams syndrome. Copyright 1998 Academic Press.
MINOR MESH HEADINGS: Hamsters-; Mice-; Rats-
MAJOR MeSH HEADINGS: *Carrier-Proteins-genetics; *Chromosome-Mapping; *Chromosomes,-Human,-Pair-7-genetics; *Proto-Oncogene-Proteins-c-myc-genetics
CHECKTAGS: Animal; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 102857-11-4; 130704-09-5
NAME OF SUBSTANCE: Carrier-Proteins; Proto-Oncogene-Proteins-c-myc; cysteine-rich-intestinal-protein; cysteine-rich-protein,-mammalian
MEDLINE ACCESSION NUMBER: 98149992
UPDATE CODE: 199806