对称性色素沉着异常症患者的双RNA特异性腺苷脱氨酶（DSRAD）基因：两个新突变和一个先前已描述的突变。
The double-RNA-specific adenosine deaminase (DSRAD) gene in dyschromatosis symmetrica hereditaria patients: two novel mutations and one previously described.
作者信息
Sun X-K, Xu A-E, Chen J-F, Tang X
机构信息
Department of Dermatology, the Third Hospital of Hangzhou, Hangzhou, China.
出版信息
Br J Dermatol. 2005 Aug;153(2):342-5. doi: 10.1111/j.1365-2133.2005.06572.x.
BACKGROUND
Dyschromatosis symmetrica hereditaria (DSH, MIM 127400) is an autosomal dominant pigmentary genodermatosis. Pathogenic mutations in the double-RNA-specific adenosine deaminase (DSRAD) gene encoding an RNA editing enzyme have recently been identified.
OBJECTIVES
To identify gene mutations of DSRAD in Chinese patients with DSH.
METHODS
Three unrelated Chinese patients with DSH were subjected to mutation detection in DSRAD. Two had family histories of DSH. All the coding exons and their flanking sequences were amplified and sequenced.
RESULTS
All three patients had heterozygous mutations including one non-sense, one frameshift and one missense mutation in DSRAD.
CONCLUSIONS
Two novel mutations, c.3169delC (p.L1057fs) and c.3247C-->T (p.R1083C), and one recurrent mutation c.1420C-->T (p.R474X), were found in this series of Chinese patients with DSH.
背景
对称性进行性色素异常症（DSH，MIM 127400）是一种常染色体显性遗传性色素性皮肤病。最近已鉴定出编码RNA编辑酶的双RNA特异性腺苷脱氨酶（DSRAD）基因中的致病突变。
目的
鉴定中国DSH患者中DSRAD的基因突变。
方法
对3例无血缘关系的中国DSH患者进行DSRAD突变检测。其中2例有DSH家族史。对所有编码外显子及其侧翼序列进行扩增和测序。
结果
3例患者均有杂合突变，包括DSRAD中的1个无义突变、1个移码突变和1个错义突变。
结论
在这组中国DSH患者中发现了2个新突变，即c.3169delC（p.L1057fs）和c.3247C→T（p.R1083C），以及1个复发性突变c.1420C→T（p.R474X）。
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