• J. Gastroenterol. · Jan 2003

    Review Case Reports

    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, and Hajime Nawata.
    • Department of Internal Medicine, Fukuoka Teishin Hospital, Fukuoka, Japan.
    • J. Gastroenterol. 2003 Jan 1; 38 (1): 87-91.

    AbstractWe 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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