Lu Jianyun, Liao Zhaohui, Chen Jing, Xiang Yaping, Wu Zhiqiang, Zuo Chengxin, Jiang Xianzhen, Huang Jinhua
Department of Dermatology, Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, People's Republic of China.
Arch Dermatol Res. 2006 Dec;298(7):357-60. doi: 10.1007/s00403-006-0701-1. Epub 2006 Sep 22.
Dyschromatosis symmetrica hereditaria (DSH) is a hereditary skin disease characterized by the presence of hyperpigmented and hypopigmented macules on face and dorsal aspects of the extremities that appear in infancy or early childhood. Genetic studies have identified mutations in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene, encoding double-stranded RNA-specific adenosine deaminase, to be responsible for this disorder. Here, we report two novel mutations c.2116 G > A (E706K) and c.2848 C > T (Q950X) in the DSRAD gene identified in two Chinese pedigrees with DSH. This study should be useful for genetic counseling and prenatal diagnosis for affected families and in expanding the database on DSRAD gene mutations in DSH.
对称性进行性色素异常症（DSH）是一种遗传性皮肤病，其特征为在婴儿期或儿童早期，面部和四肢背部出现色素沉着过度和色素沉着不足的斑疹。基因研究已确定，编码双链RNA特异性腺苷脱氨酶的双链RNA特异性腺苷脱氨酶（DSRAD）基因突变是导致这种疾病的原因。在此，我们报告了在两个患有DSH的中国家系中鉴定出的DSRAD基因的两个新突变，即c.2116 G>A（E706K）和c.2848 C>T（Q950X）。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DSRAD基因突变的数据库应具有帮助。
