title: Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria.
abstract: Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant skin disorder. It is also called "reticulate acropigmentation of Dohi" or "symmetric dyschromatosis of the extremities". The DSH locus has recently been mapped to chromosome 1q21 and pathogenic mutations were identified in the DSRAD gene encoding double-stranded RNA-specific adenosine deaminase in Japanese patients with DSH. We report here two novel point mutations, Q513X(1537C>T) and R916W(2746C>T) in the DSRAD gene identified in two Chinese families, respectively. These data suggest that mutations in DSRAD were also associated with DSH in Chinese. This is the first report on DSRAD as the causative gene of DSH in the Chinese population.
authors.affiliation: Department of Medical Genetics and National Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Liu
authors.forename: Wenli
authors.initials: W
authors.lastname: Liu
authors.forename: Li
authors.initials: L
authors.lastname: Jiang
authors.forename: Miao
authors.initials: M
authors.lastname: Sun
authors.forename: Yang
authors.initials: Y
authors.lastname: Ao
authors.forename: Xiuli
authors.initials: X
authors.lastname: Zhao
authors.forename: Yong
authors.initials: Y
authors.lastname: Song
authors.forename: Yang
authors.initials: Y
authors.lastname: Luo
authors.forename: Wilson H Y
authors.initials: WH
authors.lastname: Lo
authors.forename: Xue
authors.initials: X
authors.lastname: Zhang
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D003596:Cytosine; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics* / Q000473:pathology; D016601:RNA-Binding Proteins; D013941:Thymine; D014364:Tryptophan / Q000235:genetics
chemical_list: D016601:RNA-Binding Proteins; D014364:Tryptophan; D003596:Cytosine; D001120:Arginine; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase; D013941:Thymine