title: Identification of a novel mutation in the DSRAD gene in a Chinese pedigree with dyschromatosis symmetrica hereditaria.
abstract: Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant skin disorder characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the face and dorsal aspects of the extremities that appear in infancy or early childhood. The DSH locus has recently been mapped to chromosome 1q21 and then pathogenic mutations have been identified in the DSRAD gene. In the study reported here we examined the DSRAD gene mutations of a three-generation Chinese pedigree with DSH by direct sequencing. We identified a novel heterozygous nucleotide T-->C transition at position 3388 in exon 14 of the DSRAD gene which induces a C1130R change in the putative deaminase domain of DSRAD. Our study expands the database on the DSRAD gene mutations in DSH and enriches the knowledge about the function of the DSRAD gene.
authors.affiliation: Institute of Dermatology, Anhui Medical University, 69 Meishan Road, 230032, Hefei, Anhui, PR China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Cui
authors.forename: Jun
authors.initials: J
authors.lastname: Wang
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.forename: Min
authors.initials: M
authors.lastname: Gao
authors.forename: Jian-Jun
authors.initials: JJ
authors.lastname: Chen
authors.forename: Kai-Lin
authors.initials: KL
authors.lastname: Yan
authors.forename: Feng-Li
authors.initials: FL
authors.lastname: Xiao
authors.forename: Wei
authors.initials: W
authors.lastname: Huang
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zhang
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*
chemical_list: D000243:Adenosine Deaminase