Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease

Naohiko Harada, Takashi Sugimura, Rie Yoshimura, Seiji Motomura, Shuya Shirahama, Jun Ichi Naramoto, Yoshiharu Chijiiwa, Kazuhiko Nakamura, Ken Ichi Ito, Hajime Nawata

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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).

Original languageEnglish
Pages (from-to)87-91
Number of pages5
JournalJournal of gastroenterology
Volume38
Issue number1
DOIs
Publication statusPublished - Jan 1 2003

All Science Journal Classification (ASJC) codes

  • Gastroenterology

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    Harada, N., Sugimura, T., Yoshimura, R., Motomura, S., Shirahama, S., Naramoto, J. I., Chijiiwa, Y., Nakamura, K., Ito, K. I., & Nawata, H. (2003). Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. Journal of gastroenterology, 38(1), 87-91. https://doi.org/10.1007/s005350300012