title: Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria.
abstract: 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.
authors.affiliation: Department of Dermatology, Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, People's Republic of China. kateljy@yahoo.com.cn
authors.forename: Jianyun
authors.initials: J
authors.lastname: Lu
authors.forename: Zhaohui
authors.initials: Z
authors.lastname: Liao
authors.forename: Jing
authors.initials: J
authors.lastname: Chen
authors.forename: Yaping
authors.initials: Y
authors.lastname: Xiang
authors.forename: Zhiqiang
authors.initials: Z
authors.lastname: Wu
authors.forename: Chengxin
authors.initials: C
authors.lastname: Zuo
authors.forename: Xianzhen
authors.initials: X
authors.lastname: Jiang
authors.forename: Jinhua
authors.initials: J
authors.lastname: Huang
mesh_terms: 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*
chemical_list: D012330:RNA, Double-Stranded; D000243:Adenosine Deaminase