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Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN
Celebi, J T; Tsou, H C; Chen, F F; Zhang, H; Ping, X L; Lebwohl, M G; Kezis, J; Peacocke, M
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.
PMCID:1734369
PMID: 10353779
ISSN: 0022-2593
CID: 5181022
Identification of PTEN mutations in five families with Bannayan-Zonana syndrome
Tok Celebi, J; Chen, F F; Zhang, H; Ping, X L; Tsou, H C; Peacocke, M
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.
PMID: 10232405
ISSN: 0906-6705
CID: 5181382
PTEN protein expression in normal skin and in basal cell carcinoma [Meeting Abstract]
Zhang, H; Celebi, JT; Ping, X; Tsou, H; Peacocke, M
ISI:000079495800666
ISSN: 0022-202x
CID: 5181332
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN [Meeting Abstract]
Lee, P; Celebi, JT; Tsou, H; Chen, F; Zhang, H; Ping, X; Lebwohl, M; Kezis, J; Peacocke, M
ISI:000079495800439
ISSN: 0022-202x
CID: 5181322
Novel PTEN mutations in three families with Bannayan-Zonana syndrome [Meeting Abstract]
Celebi, JT; Tsou, H; Chen, F; Zhang, H; Ping, X; Peacocke, M
ISI:000079495800438
ISSN: 0022-202x
CID: 5181312
Altered phosphatase activity in mutant PTEN proteins associated with Cowden Syndrome missense mutations [Meeting Abstract]
Ping, X; Zhang, H; Chen, F; Celebi, JT; Closson, V; Tsou, H; Peacocke, M
ISI:000079495800150
ISSN: 0022-202x
CID: 5181302