Zhang G L, Shi H J, Shao M H, Li M, Mu H J, Gu Y, Du X F, Xie P
Department of Dermatology, Affiliated Wuxi People's Hospital, Nanjing Medical University, Wuxi, China.
Genet Mol Res. 2013 Jan 4;12(3):2794-9. doi: 10.4238/2013.January.4.18.
We investigated 2 Chinese families with dyschromatosis symmetrica hereditaria (DSH) and search for mutations in the adenosine deaminase acting on RNA1 (ADAR1) gene in these 2 pedigrees. We performed a mutation analysis of the ADAR1 gene in 2 Chinese families with DSH and reviewed all articles published regarding ADAR1 mutations reported since 2003 by using PubMed. By direct sequencing, a 2-nucleotide AG deletion, 2099-2100delAG, was found in family 1, and a C→T mutation was identified at nucleotide 1420 that changed codon 474 from arginine to a translational termination codon in family 2. Two different pathogenic mutations were identified, c.2099-2100delAG and c.1420C>T, the former being a novel mutation, and the latter previously reported in 3 other families with DSH. To date, a total of 110 mutations in the ADAR1 gene have been reported, and 10 of them were recurrent; the mutations R474X, R1083C, R1096X, and R1155W might be the DSH-related hotspots.
我们对2个患有对称性色素沉着异常（DSH）的中国家庭进行了研究，并在这2个家系中寻找RNA特异性腺苷脱氨酶1（ADAR1）基因的突变。我们对2个患有DSH的中国家庭的ADAR1基因进行了突变分析，并使用PubMed检索了自2003年以来发表的所有关于ADAR1突变的文章。通过直接测序，在家庭1中发现了一个2核苷酸AG缺失，即2099 - 2100delAG，在家庭2中在核苷酸1420处鉴定出一个C→T突变，该突变将密码子474从精氨酸变为翻译终止密码子。鉴定出了两种不同的致病突变，即c.2099 - 2100delAG和c.1420C>T，前者是一种新突变，后者先前在其他3个患有DSH的家庭中报道过。迄今为止，ADAR1基因共报道了110个突变，其中10个是复发性突变；R474X、R1083C、R1096X和R1155W突变可能是与DSH相关的热点突变。
