Document Detail


Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
MedLine Citation:
PMID:  10353779     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
J T Celebi; H C Tsou; F F Chen; H Zhang; X L Ping; M G Lebwohl; J Kezis; M Peacocke
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of medical genetics     Volume:  36     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1999 May 
Date Detail:
Created Date:  1999-08-24     Completed Date:  1999-08-24     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  360-4     Citation Subset:  IM    
Affiliation:
Department of Dermatology, Columbia Presbyterian Hospital, Columbia University, College of Physicians and Surgeons, New York, New York 10032, USA.
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MeSH Terms
Descriptor/Qualifier:
Adult
Child
Craniofacial Abnormalities / genetics,  pathology*
Female
Germ-Line Mutation*
Hamartoma Syndrome, Multiple / genetics,  pathology*
Humans
Male
Middle Aged
PTEN Phosphohydrolase
Pedigree
Phenotype
Phosphoric Monoester Hydrolases / genetics*
Sequence Analysis, DNA
Syndrome
Tumor Suppressor Proteins*
Grant Support
ID/Acronym/Agency:
K-04 AG-00694/AG/NIA NIH HHS; R0-1 CA-66693/CA/NCI NIH HHS; R0-1 CA-70519/CA/NCI NIH HHS
Chemical
Reg. No./Substance:
0/Tumor Suppressor Proteins; EC 3.1.3.-/Phosphoric Monoester Hydrolases; EC 3.1.3.48/PTEN protein, human; EC 3.1.3.67/PTEN Phosphohydrolase
Comments/Corrections

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