Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria.
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.
Lu
Jianyun
J
Department of Dermatology, Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, People's Republic of China. kateljy@yahoo.com.cn
Liao
Zhaohui
Z
Chen
Jing
J
Xiang
Yaping
Y
Wu
Zhiqiang
Z
Zuo
Chengxin
C
Jiang
Xianzhen
X
Huang
Jinhua
J
D000243:Adenosine Deaminase / Q000235:genetics*; D000293:Adolescent; D044466:Asian People / Q000235:genetics; D002648:Child; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010859:Pigmentation Disorders / Q000151:congenital* / Q000208:ethnology / Q000235:genetics*; D012330:RNA, Double-Stranded / Q000235:genetics*
D012330:RNA, Double-Stranded; D000243:Adenosine Deaminase