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a Department of
Dermatology, Columbia Presbyterian Hospital, Columbia University,
College of Physicians and Surgeons, 630 West 168th Street, New York,
New York 10032, USA, b Department 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
Correspondence to: Dr Peacocke.
Received 27 October 1998;
Revised version accepted for publication 14 December
1998
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.
This article has been cited by other articles:
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  K L Lachlan, A M Lucassen, D Bunyan, and I K Temple Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers J. Med. Genet., September 1, 2007; 44(9): 579 - 585. [Abstract] [Full Text] [PDF]
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 J. V. Schaffer, H. Kamino, A. Witkiewicz, J. M. McNiff, and S. J. Orlow Mucocutaneous Neuromas: An Underrecognized Manifestation of PTEN Hamartoma-Tumor Syndrome. Arch Dermatol, May 1, 2006; 142(5): 625 - 632. [Abstract] [Full Text] [PDF]
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D A Lee, M E Grossman, P Schneiderman, and J T Celebi Genetics of skin appendage neoplasms and related syndromes J. Med. Genet., November 1, 2005; 42(11): 811 - 819. [Abstract] [Full Text] [PDF]
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 S. Agrawal, R. Pilarski, and C. Eng Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN Hum. Mol. Genet., August 15, 2005; 14(16): 2459 - 2468. [Abstract] [Full Text] [PDF]
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R Pilarski and C Eng Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome J. Med. Genet., May 1, 2004; 41(5): 323 - 326. [Full Text]
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A. S. Paller Genetic Disorders of Skin: A Decade of Progress Arch Dermatol, January 1, 2003; 139(1): 74 - 77. [Full Text] [PDF]
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M. A PARISI, M. B. DINULOS, K. A LEPPIG, V. P SYBERT, C. ENG, and L. HUDGINS The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome J. Med. Genet., January 1, 2001; 38(1): 52 - 58. [Full Text]
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 I. U. Ali, L. M. Schriml, and M. Dean Mutational Spectra of PTEN/MMAC1 Gene: a Tumor Suppressor With Lipid Phosphatase Activity J Natl Cancer Inst, November 17, 1999; 91(22): 1922 - 1932. [Abstract] [Full Text] [PDF]
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