ADAR1 gene mutations in two Chinese pedigrees with dyschromatosis symmetrica hereditaria

Abstract

Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominantly inherited disease with high penetrance. Patients with DSH display a mixture of hyperpigmented and hypopigmented macules on the dorsal aspects of the extremities and freckle-like macules on the face. We identified mutations in two Chinese pedigrees with DSH using whole-exome sequencing (WES) and verified these mutations with PCR-Sanger sequencing. We found a previously reported mutation, c.2433_2434del (p.A813Qfs*29), in exon 7 of ADAR1 in the patient of pedigree one and a novel mutation, c.3301G>T(p.V1101F), in exon 13 of ADAR1 in the patients of pedigree two. We have identified two gene mutations, one of which may be a novel mutation. At present, the main focus is to improve the color of skin lesions. Laser therapy and sun protection can to some extent alleviate skin lesions. The findings of the current case have expanded the range of ADAR1 mutations associated with DSH and may be of great help for future clinical genetic counseling.