Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria
Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria
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DOI：
10.1111/j.0022-202x.2004.22429.x
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发表时间：
2004-04-01
影响因子：
6.5
通讯作者：
Zhang, X
中科院分区：
文献类型：
--
作者：
Liu, Q;Liu, WL;Zhang, X
遗传性皮肤色素异常症（DSH）是一种常染色体显性遗传性皮肤病。它也被称为“Dohi网状肢端色素沉着”或“四肢对称性色素异常”。DSH基因座最近被定位于染色体1q21，在日本DSH患者中，在编码双链RNA特异性腺苷脱氨酶的DSRAD基因中鉴定出致病性突变。我们在此报告了两个新的DSRAD基因点突变，Q513 X（1537 C>T）和R916 W（2746 C>T），分别在两个中国家庭中发现。这些数据表明，DSRAD基因突变也与中国人DSH有关。这是国内首次报道DSRAD基因为DSH的致病基因。
Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant skin disorder. It is also called "reticulate acropigmentation of Dohi" or "symmetric dyschromatosis of the extremities". The DSH locus has recently been mapped to chromosome 1q21 and pathogenic mutations were identified in the DSRAD gene encoding double-stranded RNA-specific adenosine deaminase in Japanese patients with DSH. We report here two novel point mutations, Q513X(1537C>T) and R916W(2746C>T) in the DSRAD gene identified in two Chinese families, respectively. These data suggest that mutations in DSRAD were also associated with DSH in Chinese. This is the first report on DSRAD as the causative gene of DSH in the Chinese population.