Xing Qinghe, Wang Mingtai, Chen Xiangdong, Qian Xueqing, Qin Wei, Gao Jianjun, Wu Shengnan, Gao Rui, Feng Guoyin, He Lin
Bio-X Life Science Research Center, Shanghai Jiao Tong University, Shanghai 200030, People's Republic of China.
Arch Dermatol Res. 2005 Sep;297(3):139-42. doi: 10.1007/s00403-005-0589-1. Epub 2005 Sep 29.
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.
对称性遗传性色素沉着异常（DSH [MIM 127400]）的特征是主要在四肢背侧出现色素沉着过多和色素沉着过少的斑疹。遗传学研究已确定，编码双链RNA特异性腺苷脱氨酶的ADAR基因突变是导致这种疾病的原因。在此，我们在中国一个患有DSH的家族中发现了ADAR基因中的一个新的缺失突变，即2929delA。该突变位于第977密码子（AGC→GC），导致移码并产生一个250个氨基酸的截短蛋白，在提前终止密码子之前有76个新氨基酸。预测截短的ADAR缺乏ADEAMc（tRNA特异性和双链RNA腺苷脱氨酶）结构域。这项研究对于受影响家庭的遗传咨询和产前诊断以及扩大DSH中ADAR基因突变的数据库应该是有用的。
