RT Journal Article
SR Electronic
T1 Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 360
OP 364
DO 10.1136/jmg.36.5.360
VO 36
IS 5
A1 Julide Tok Çelebi
A1 Hui C Tsou
A1 Fei Fei Chen
A1 Hong Zhang
A1 Xiao Li Ping
A1 Mark G Lebwohl
A1 Jeffrey Kezis
A1 Monica Peacocke
YR 1999
UL http://jmg.bmj.com/content/36/5/360.abstract
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.