PT  - JOURNAL ARTICLE
AU  - Julide Tok Çelebi
AU  - Hui C Tsou
AU  - Fei Fei Chen
AU  - Hong Zhang
AU  - Xiao Li Ping
AU  - Mark G Lebwohl
AU  - Jeffrey Kezis
AU  - Monica Peacocke
TI  - Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN
AID  - 10.1136/jmg.36.5.360
DP  - 1999 May 01
TA  - Journal of Medical Genetics
PG  - 360--364
VI  - 36
IP  - 5
4099  - http://jmg.bmj.com/content/36/5/360.short
4100  - http://jmg.bmj.com/content/36/5/360.full
SO  - J Med Genet1999 May 01; 36
AB  - 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.