Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria

被引：32

作者：

Suzuki, Noriyuki

Suzuki, Tamio

Inagaki, Katsuhiko

Ito, Shiro

Kono, Michihiro

Horikawa, Tatsuya

Fujiwara, Sakuhei

Ishiko, Akira

Matsunaga, Kayoko

Aoyama, Yumi

Tosaki-Ichikawa, Hiroko

Tomita, Yasushi

机构：

[1] Nagoya Univ, Grad Sch Med, Dept Dermatol, Showa Ku, Nagoya, Aichi 4668550, Japan

[2] Kobe Univ, Grad Sch Med, Dept Dermatol, Kobe, Hyogo, Japan

[3] Oita Univ, Fac Med, Dept Dermatol, Oita, Japan

[4] Keio Univ, Sch Med, Dept Dermatol, Tokyo, Japan

[5] Fujita Hlth Univ, Dept Dermatol, Toyoake, Aichi 47011, Japan

[6] Gifu Univ, Sch Med, Dept Dermatol, Gifu 500, Japan

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2007年 / 127卷 / 02期

关键词：

D O I：

10.1038/sj.jid.5700528

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal-dominant inheritance. We have reported 20 different mutations of the adenosine deaminase acting on RNA 1 gene (ADAR1) in patients with DSH since we had clarified that the disease is caused by a mutation of the ADAR1 gene in 2003. In this study, we report 10 novel mutations responsible for DSH: p.Q102fsX123, p.T369fsX374, p.S664fsX677, p.R892L, p.1913R, p.R916Q, p.P990fsX1016, p.C1081S, p.C1169F, and p.K1187X.

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页码：309 / 311

页数：3

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