A novel missense mutation in ADAR1 gene causing dyschromatosis symmetrica hereditaria in a Chinese patient

[1] In this study, we investigated the members of a four-generation family from Jiangsu province of China with typical dyschromatosis symmetrica hereditaria [Figure 1]a. The proband of this family is a 60-year-old male with a history, from 6 to 7 months age, of hyperpigmented and hypopigmented macules on the distal extremities [Figure 1]b and c. The typical lesions were also observed on the knees, elbows [Figure 1]d, and buttocks [Figure 1]e. After informed consent, we collected peripheral blood from the patient and sequenced all exons of the ADAR1 gene.