ADAR1 gene mutations in two Chinese pedigrees with dyschromatosis symmetrica hereditaria
Ya-Qi Cao, Chun-Yu Han, Jian-Wen Han- Infectious Diseases
- Dermatology
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
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