Novel germline mutation of the PTEN gene in a Japanese family with Cowden disease.
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).
Harada
Naohiko
N
Department of Internal Medicine, Fukuoka Teishin Hospital, Fukuoka, Japan.
Sugimura
Takashi
T
Yoshimura
Rie
R
Motomura
Seiji
S
Shirahama
Shuya
S
Naramoto
Jun-Ichi
J
Chijiiwa
Yoshiharu
Y
Nakamura
Kazuhiko
K
Ito
Ken-Ichi
K
Nawata
Hajime
H
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*
D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human