A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria

Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the extremities. Pathogenic mutations in the DSRAD gene have been identified. In this report, we identified a Chinese family with a three-generation pedigree of DSH, in which a novel heterozygous nucleotide G -> A transition was found. It is at position 3,125 in exon 12 of the DSRAD gene which induces a R1042H change in the putative deaminase domain of DSRAD. Our study expands the database on the DSRAD gene mutations in DSH.