familial macrocephaly;
autosomal dominant macrocephaly;
also called Bannayan-Riley-Ruvalcaba syndrome
TITLE: Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome.
AUTHOR(S): Bevan-S; Woodford-Richens-K; Rozen-P; Eng-C; Young-J; Dunlop-M; Neale-K; Phillips-R; Markie-D; Rodriguez-Bigas-M; Leggett-B; Sheridan-E; Hodgson-S; Iwama-T; Eccles-D; Bodmer-W; Houlston-R; Tomlinson-I
ADDRESS OF AUTHOR: Section of Cancer Genetics, Haddow Laboratories, Institute of Cancer Research, Sutton, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Gut. 1999 Sep; 45(3): 406-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0017-5749
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: BACKGROUND AND AIMS: Juvenile polyps occur in several Mendelian disorders, whether in association with gastrointestinal cancer alone (juvenile polyposis syndrome, JPS) or as part of known syndromes (Cowden, Gorlin, and Bannayan-Zonana) in association with developmental abnormalities, dysmorphic features, or extraintestinal tumours. Recently, some JPS families were shown to harbour germline mutations in the SMAD4 (DPC4) gene, providing further evidence for the importance of the TGFbeta signalling pathway in colorectal cancer. There remains, however, considerable, unexplained genetic heterogeneity in JPS. Other members of the SMAD family are excellent candidates for JPS, especially SMAD2 (which, like SMAD4, is mutated somatically in colorectal cancers), SMAD3 (which causes colorectal cancer when "knocked out" in mice), SMAD5, and SMAD1. METHODS: SMAD1, SMAD2, SMAD3, and SMAD5 were screened for germline mutations in 30 patients with JPS and without SMAD4 mutations. RESULTS: No mutations were found in any of these genes. A G-A C89Y polymorphism with possible effects on protein function was found in SMAD3, but the frequencies of the G and A alleles did not differ between patients with JPS and controls. CONCLUSIONS: It remains to be determined whether or not this polymorphism is involved in a minor predisposition to colorectal or other carcinomas. SMAD4 may be the only member of the SMAD family which causes JPS when mutant in the germline. The other genes underlying JPS remain to be identified.
MINOR MESH HEADINGS: Adolescence-; Genetic-Markers; Phosphoproteins-genetics; Polymorphism-Genetics; Trans-Activators-genetics
MAJOR MeSH HEADINGS: *Adenomatous-Polyposis-Coli-genetics; *DNA-Binding-Proteins-genetics; *Germ-Line-Mutation
CHECKTAGS: Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 0; 0; 0; 0
NAME OF SUBSTANCE: DNA-Binding-Proteins; Genetic-Markers; Phosphoproteins; Smad1-protein; Smad2-protein; Smad3-protein; Smad5-protein; Trans-Activators
MEDLINE ACCESSION NUMBER: 1999376906
UPDATE CODE: 199912
SUBSET: AIM
Record 2 of 6 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
AUTHOR(S): Celebi-JT; Tsou-HC; Chen-FF; Zhang-H; Ping-XL; Lebwohl-MG; Kezis-J; Peacocke-M
ADDRESS OF AUTHOR: Department of Dermatology, Columbia Presbyterian Hospital, Columbia University, College of Physicians and Surgeons, New York, New York 10032, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1999 May; 36(5): 360-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2593
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS) are two hamartoma syndromes with distinct phenotypic features. Although partial clinical overlap exists between CS and BZS, they are considered to be separate entities. PTEN has been identified as the susceptibility gene for both disorders, suggesting allelism. We have identified a germline mutation, R335X, in PTEN in a family consisting of two female members with the phenotypic findings of CS and two male members with the phenotypic findings of BZS. To our knowledge, this is the first report that shows the presence of separate subjects with CS and with BZS in a single family associated with a single germline PTEN mutation.
MINOR MESH HEADINGS: Adult-; Child-; Craniofacial-Abnormalities-genetics; Hamartoma-Syndrome,-Multiple-genetics; Middle-Age; Pedigree-; Phenotype-; Sequence-Analysis,-DNA; Syndrome-
MAJOR MeSH HEADINGS: *Craniofacial-Abnormalities-pathology; *Germ-Line-Mutation; *Hamartoma-Syndrome,-Multiple-pathology; *Phosphoric-Monoester-Hydrolases-genetics
CHECKTAGS: Female; Human; Male; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: RO1CA66693CANCI; RO1CA70519CANCI; K04AG00694AGNIA
CAS REGISTRY NUMBER OR EC NUMBER: EC 3.1.3; EC 3.1.3.-
NAME OF SUBSTANCE: Phosphoric-Monoester-Hydrolases; PTEN-protein
MEDLINE ACCESSION NUMBER: 1999280246
UPDATE CODE: 199910
Record 3 of 6 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.
AUTHOR(S): Tok-Celebi-J; Chen-FF; Zhang-H; Ping-XL; Tsou-HC; Peacocke-M
ADDRESS OF AUTHOR: Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Exp-Dermatol. 1999 Apr; 8(2): 134-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0906-6705
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: DENMARK
ABSTRACT: Germline mutations in PTEN, a putative tumor suppressor gene, has been identified in 2 autosomal dominant inherited hamartoma syndromes, Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS). While both diseases exhibit distinct phenotypic features, there seems to be a partial clinical overlap between the 2 diseases. To date, 9 families with BZS have been screened for PTEN mutations, of which 5 were found to exhibit mutations in this gene. We report 5 novel germline mutations in the PTEN coding sequence from 5 unrelated families with the BZS phenotype. While all the mutations we identified are novel in BZS, 1003C-->T (nonsense mutation) and 209+5G-->A (putative splice site mutation) have been previously reported in unrelated families with CS and Lhermitte Duclos disease. Interestingly, 1 of the families has an individual with BZS and 1 with CS phenotype, associated with a single PTEN mutation, 885insA. These data support the notion that CS and BZS may be within the spectrum of the same primary disorder.
MINOR MESH HEADINGS: Adult-; Amino-Acid-Substitution; Base-Sequence; Child-; Child,-Preschool; DNA-blood; DNA-genetics; Exons-; Middle-Age; Polymerase-Chain-Reaction
MAJOR MeSH HEADINGS: *Germ-Line-Mutation; *Hamartoma-Syndrome,-Multiple-genetics; *Phosphoric-Monoester-Hydrolases-genetics; *Point-Mutation
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: RO1CA66693CANCI; RO1CA70519CANCI; K04AG00649AGNIA
CAS REGISTRY NUMBER OR EC NUMBER: EC 3.1.3; EC 3.1.3.-; 9007-49-2
NAME OF SUBSTANCE: Phosphoric-Monoester-Hydrolases; PTEN-protein; DNA
MEDLINE ACCESSION NUMBER: 1999247365
UPDATE CODE: 199908
Record 4 of 6 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Inherited macrocephaly-hamartoma syndromes.
AUTHOR(S): DiLiberti-JH
ADDRESS OF AUTHOR: Department of Pediatrics, University of Illinois College of Medicine at Peoria, Children's Hospital of Illinois at OSF Saint Francis Medical Center 61637, USA. JHD@UIC.edu
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1998 Oct 2; 79(4): 284-90
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Recent discoveries in the molecular biology of the phosphatase and tensin homolog (PTEN) locus in the q22-23 region of chromosome 10 prove and/or suggest that several syndromes previously considered to be clinically and genetically distinct entities should actually be unified into a single entity. This conclusion is most secure for the Cowden and "Bannayan-Zonana" phenotypes, but almost certainly should also include the "Riley-Ruvalcaba" and Lhermitte-Duclos phenotypes as well benign familial macrocephaly and external hydrocephalus. The clinical and molecular data supporting this unification are presented along with a proposal for new nomenclature-the PTEN MATCHS (macrocephaly, autosomal dominant, thyroid disease, cancer, hamartomata, skin abnormalities) syndrome-based on the observed clinical abnormalities.
MINOR MESH HEADINGS: Hamartoma-Syndrome,-Multiple-pathology; Head-pathology
MAJOR MeSH HEADINGS: *Hamartoma-Syndrome,-Multiple-genetics; *Head-abnormalities
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 1998453170
UPDATE CODE: 199908
Record 5 of 6 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Severe Lhermitte-Duclos disease with unique germline mutation of PTEN.
AUTHOR(S): Sutphen-R; Diamond-TM; Minton-SE; Peacocke-M; Tsou-HC; Root-AW
ADDRESS OF AUTHOR: Department of Pediatrics, University of South Florida College of Medicine and H. Lee Moffitt Cancer Center and Research Institute, Tampa 33612, USA. Rsutphen@com1.md.usf.edu
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 Feb 12; 82(4): 290-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Germline mutations in the PTEN gene have recently been identified in some individuals with Cowden disease (CD), Lhermitte-Duclos disease (LDD), and Bannayan-Zonana syndrome. We report on a patient with CD and LDD in whom a unique de novo germline missense mutation is present in the PTEN gene. Direct sequence analysis detected a transitional change (T-->C) at nucleotide 335, resulting in substitution of the amino acid proline for leucine. The mutation is in exon 5, which has been proposed as a "hot-spot" for germline mutations. Comparison of this patient's clinical course with the previously reported cases of CD and LDD shows more extensive and more severe clinical findings than reported previously. Findings in this patient contribute to the current understanding of germline PTEN mutations and clinical outcome.
MINOR MESH HEADINGS: Adult-; Germ-Line-Mutation; Mutation,-Missense; Point-Mutation; Skin-Diseases-genetics; Syndrome-
MAJOR MeSH HEADINGS: *Cerebellar-Neoplasms-genetics; *Ganglioneuroma-genetics; *Hamartoma-Syndrome,-Multiple-genetics; *Phosphoric-Monoester-Hydrolases-genetics
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: EC 3.1.3; EC 3.1.3.-
NAME OF SUBSTANCE: Phosphoric-Monoester-Hydrolases; PTEN-protein
MEDLINE ACCESSION NUMBER: 1999158469
UPDATE CODE: 199907
Record 6 of 6 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Lack of chromosome 15q11-q13 region involvement in a family with Cowden disease/Bannayan-Zonana syndrome [letter]
AUTHOR(S): Dasouki-MJ; Marney-A; Butler-MG
SOURCE (BIBLIOGRAPHIC CITATION): J-Gastroenterol. 1998 Dec; 33(6): 928-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0944-1174
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: JAPAN
MINOR MESH HEADINGS: Adult-; Child-; Chromosome-Mapping; Hamartoma-Syndrome,-Multiple-diagnosis; Infant-; Pedigree-; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Chromosomes,-Human,-Pair-13; *Chromosomes,-Human,-Pair-15; *Hamartoma-Syndrome,-Multiple-genetics
CHECKTAGS: Human; Male
PUBLICATION TYPE: LETTER; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 1999068468
UPDATE CODE: 199904