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

被引：15

作者：

Harada, N ^{[1
]}

Sugimura, T

Yoshimura, R

Motomura, S

Shirahama, S

Naramoto, JI

Chijiiwa, Y

Nakamura, K

Ito, KI

Nawata, H

机构：

[1] Fukuoka Teishin Hosp, Dept Internal Med, Fukuoka, Japan

[2] SRL Inc, Ctr Mol Biol & Cytogenet, Tokyo, Japan

[3] Naramoto Clin, Saga, Japan

[4] Kyushu Univ, Med Inst Bioregulat, Beppu, Oita, Japan

[5] Kyushu Univ, Grad Sch Med Sci, Dept Med & Bioregulatory Sci, Higashi Ku, Fukuoka 8128582, Japan

来源：

JOURNAL OF GASTROENTEROLOGY | 2003年 / 38卷 / 01期

关键词：

Cowden disease; PTEN; multiple hamartoma syndrome;

D O I：

10.1007/s005350300012

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

We report a novel germline mutation of the PTEN gene in a Japanese family with Cowden disease. A 46-yearold 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).

引用

页码：87 / 91

页数：5

共 50 条

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