Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease
- 1 January 2003
- journal article
- case report
- Published by Springer Nature in The Esophagus
- Vol. 38 (1) , 87-91
- https://doi.org/10.1007/s005350300012
Abstract
We report a novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. A 46-year-old Japanese man and his mother were diagnosed as having Cowden disease. Their physical examinations revealed multiple facial trichilemmoma, oral mucosal papillomatosis, palmoplantar keratosis, and gastrointestinal polyposis. The single-strand conformation polymorphism (SSCP) analysis showed an abnormal band on exon 7 of their PTEN gene. Direct sequence analysis of exon 7 detected a TAAA insertion to codon 221, producing a stop codon (c.663ins TAAA).Keywords
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