title: A novel mutation of the DSRAD gene in  a Chinese family with dyschromatosis symmetrica hereditaria.
abstract: Dyschromatosis symmetrica hereditaria (DSH) is an  autosomal dominant cutaneous disorder, characterized by a mixture of  hyperpigmented and hypopigmented macules mostly on the dorsal portions of the  extremities. Pathogenic mutations have been identified in the double-stranded  RNA-specific adenosine deaminase (DSRAD) gene. We studied a Chinese  family that included four affected individuals with DSH phenotypes. PCR and  direct sequencing were carried out to detect the entire coding region and  exon-intron boundaries of the DSRAD gene. A novel nucleotide  c.3002G>T missense mutation in the exon 11 of the DSRAD gene was  detected in the proband and his father. This information expands the database  on DSRAD gene mutations associated with DSH.
authors: Department of Dermatology, Second Hospital of Wuxi Affiliated to Nanjing Medical University, Wuxi, Jiangsu, China.
authors: M L
authors: ML
authors: Lai
authors: L J
authors: LJ
authors: Yang
authors: X H
authors: XH
authors: Zhu
authors: M
authors: M
authors: Li
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D000595:Amino Acid Sequence; D044466:Asian People; D001483:Base Sequence; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007438:Introns; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010859:Pigmentation Disorders / Q000151:congenital* / Q000201:enzymology / Q000235:genetics; D016601:RNA-Binding Proteins; D017384:Sequence Deletion
chemical_list: D016601:RNA-Binding Proteins; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase