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).
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Received: July 11, 2001 / Accepted: November 2, 2001
Reprint requests to: N. Harada
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Harada, N., Sugimura, T., Yoshimura, R. et al. Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. J Gastroenterol 38, 87–91 (2003). https://doi.org/10.1007/s005350300012
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DOI: https://doi.org/10.1007/s005350300012