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

Background: 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.

Objectives: To identify additional gene mutations of DSRAD in patients with DSH.

Methods: 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.

Results: 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).

Conclusions: 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.