Identification of a novel mutation in the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria

Abstract

To the Editor: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant skin disease that is characterized by a mixture of hyperpigmented and hypopigmented macules on the face and dorsal aspects of the extremities. Genetic studies1 have confirmed that a mutation of the double-stranded, RNA-specific adenosine deaminase (DSRAD, also called ADAR1) gene is responsible for this disorder. In this study, we screened the DSRAD gene for mutations in a Chinese family with DSH.