Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN
- Julide Tok Çelebia,
- Hui C Tsoua,
- Fei Fei Chena,
- Hong Zhanga,
- Xiao Li Pinga,
- Mark G Lebwohlb,
- Jeffrey Kezisa,
- Monica Peacockea
- aDepartment of Dermatology, Columbia Presbyterian Hospital, Columbia University, College of Physicians and Surgeons, 630 West 168th Street, New York, New York 10032, USA, bDepartment of Dermatology, The Mount Sinai School of Medicine, The Mount Sinai Medical Center, One Gustave L Levy Place, Box 1130, New York, New York 10029, USA
- Dr Peacocke.
- Received 27 October 1998
- Revised 14 December 1998
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.
