Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria
Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria
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DOI：
10.1038/sj.jid.5700528
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发表时间：
2007-02-01
影响因子：
6.5
通讯作者：
Tomita, Yasushi
中科院分区：
文献类型：
--
作者：
Suzuki, Noriyuki;Suzuki, Tamio;Tomita, Yasushi
遗传性对称性色素异常症(DSH)是一种常染色体显性遗传的色素遗传性皮肤病。自从2003年明确DSH是由ADAR1基因突变引起以来，我们已经报道了20种作用于RNA1基因的腺苷脱氨酶(ADAR1)突变。在本研究中，我们报告了10个与DSH相关的新突变：p.Q102fsX123、p.T369fsX374、p.S664fsX677、p.R892L、p.1913R、p.R916Q、p.P990fsX1016、p.C1081S、p.C1169F和p.K1187X。
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.