Two novel mutations in the DSRAD gene in two Chinese pedigrees with dyschromatosis symmetrica hereditaria

Abstract

Dyschromatosis symmetrica hereditaria (DSH) is a highly penetrant autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules localized on the back of the extremities. Genetic studies have identified pathogenic mutations in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene as responsible for this disorder. To identify additional gene mutations of DSRAD in patients with DSH. Two Chinese families with typical DSH were subjected to mutation detection in DSRAD. All DSRAD exons and their flanking intronic sequences were amplified and sequenced. Two novel mutations in the functional domains of the DSRAD gene were identified in two pedigrees. The c. 3140G>A(p.G1047D) mutation was found in all patients but not in the healthy individuals from the same family (I) and c.1760 A>G(p.Y587C) mutation was found in all the patients but not in the healthy family members (II). Two novel DSRAD mutations, p.G1047D and p.Y587C, were found in Chinese patients with DSH and our data add new variants to the knowledge of DSRAD mutations in DSH.