Identification of a novel ADAR mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH)
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- 作者：Qinghe Xing ; Mingtai Wang ; Xiangdong Chen ; Xueqing Qian ; Wei Qin ; Jianjun Gao ; Shengnan Wu ; Rui Gao ; Guoyin Feng and Lin He
- 关键词：Dyschromatosis symmetrica hereditaria (DSH) ; ADAR ; Mutation
- 刊名：Archives of Dermatological Research
- 出版年：2005
- 出版时间：September 2005
- 年：2005
- 卷：297
- 期：3
- 页码：139-142
- 全文大小：303 KB
- 刊物类别：Medicine
- 刊物主题：Medicine & Public Health
Dermatology - 出版者：Springer Berlin / Heidelberg
- ISSN：1432-069X
文摘
Dyschromatosis symmetrica hereditaria (DSH [MIM 127400]) is characterized by the presence of hyperpigmented and hypopigmented macules mostly on the dorsal aspects of the extremities. Genetic studies have identified mutations in the ADAR gene, encoding double-stranded RNA-specific adenosine deaminase, to be responsible for this disorder. Here, we found a novel deletion mutation in the ADAR gene, 2929delA, in a Chinese family with DSH. This mutation is located in codon 977 (AGC→GC), and leads to a frameshift and truncated protein of 250 amino acids with 76 novel amino acids prior to a premature stop codon. The truncated ADAR is predicted to lack the ADEAMc (tRNA-specific and double-stranded RNA adenosine deaminase) domain. This study should be useful for genetic counseling and prenatal diagnosis for affected families and in expanding the database on ADAR gene mutations in DSH.