title: Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria.
abstract: We investigated 2 Chinese families with dyschromatosis symmetrica hereditaria (DSH) and search for mutations in the adenosine deaminase acting on RNA1 (ADAR1) gene in these 2 pedigrees. We performed a mutation analysis of the ADAR1 gene in 2 Chinese families with DSH and reviewed all articles published regarding ADAR1 mutations reported since 2003 by using PubMed. By direct sequencing, a 2-nucleotide AG deletion, 2099-2100delAG, was found in family 1, and a C→T mutation was identified at nucleotide 1420 that changed codon 474 from arginine to a translational termination codon in family 2. Two different pathogenic mutations were identified, c.2099-2100delAG and c.1420C>T, the former being a novel mutation, and the latter previously reported in 3 other families with DSH. To date, a total of 110 mutations in the ADAR1 gene have been reported, and 10 of them were recurrent; the mutations R474X, R1083C, R1096X, and R1155W might be the DSH-related hotspots.
authors: Department of Dermatology, Affiliated Wuxi People's Hospital, Nanjing Medical University, Wuxi, China. zglamu@163.com
authors: G L
authors: GL
authors: Zhang
authors: H J
authors: HJ
authors: Shi
authors: M H
authors: MH
authors: Shao
authors: M
authors: M
authors: Li
authors: H J
authors: HJ
authors: Mu
authors: Y
authors: Y
authors: Gu
authors: X F
authors: XF
authors: Du
authors: P
authors: P
authors: Xie
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002681:China; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010859:Pigmentation Disorders / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D016601:RNA-Binding Proteins
chemical_list: D016601:RNA-Binding Proteins; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase