title: Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease.
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).
authors.affiliation: Department of Internal Medicine, Fukuoka Teishin Hospital, Fukuoka, Japan.
authors.forename: Naohiko
authors.initials: N
authors.lastname: Harada
authors.forename: Takashi
authors.initials: T
authors.lastname: Sugimura
authors.forename: Rie
authors.initials: R
authors.lastname: Yoshimura
authors.forename: Seiji
authors.initials: S
authors.lastname: Motomura
authors.forename: Shuya
authors.initials: S
authors.lastname: Shirahama
authors.forename: Jun-Ichi
authors.initials: J
authors.lastname: Naramoto
authors.forename: Yoshiharu
authors.initials: Y
authors.lastname: Chijiiwa
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Nakamura
authors.forename: Ken-Ichi
authors.initials: K
authors.lastname: Ito
authors.forename: Hajime
authors.initials: H
authors.lastname: Nawata
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D018095:Germ-Line Mutation; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human