ADAR1 gene mutations in two Chinese pedigrees with dyschromatosis symmetrica hereditaria

Abstract

Introduction: 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. Case presentation: 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. Discussion: 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. Conclusion: 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.