title: A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria.
abstract: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the extremities. Pathogenic mutations in the DSRAD gene have been identified. In this report, we identified a Chinese family with a three-generation pedigree of DSH, in which a novel heterozygous nucleotide G-->A transition was found. It is at position 3,125 in exon 12 of the DSRAD gene which induces a R1042H change in the putative deaminase domain of DSRAD. Our study expands the database on the DSRAD gene mutations in DSH.
authors.affiliation: Department of Dermatology, The Wuxi Second Affiliated Hospital of Nanjing Medical University, Wuxi, Jiangsu 214002, China. aypyslm@163.com
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.forename: Li-Jia
authors.initials: LJ
authors.lastname: Yang
authors.forename: Yi-Xin
authors.initials: YX
authors.lastname: Shi
authors.forename: Hong-Yu
authors.initials: HY
authors.lastname: Huang
mesh_terms: D000243:Adenosine Deaminase; D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006639:Histidine; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D016601:RNA-Binding Proteins
chemical_list: D016601:RNA-Binding Proteins; D006639:Histidine; D001120:Arginine; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase