Abstract: Objective: To detect the mutation of ADAR1 gene in one sporadic case with dyschromatosis symmetrica hereditaria (DSH)．Methods: Peripheral blood DNA was extracted from one sporadic patient with DSH, his normal parents and 100 healthy controls. The exons of ADAR1 and intronic flanking sequences were amplified by polymerase chain reaction ( PCR) and the products were sequenced by sanger sequencing．Results: A novel nonsense mutation c.1162G>T ( P.E388X) in exon2 was identified, which cause truncated protein in this patient．This mutation was not found in his parents and controls．Conclusion: A novel nonsense mutation c.1162G>T in the ADAR1 gene may underlies the DSH in this patient, which is the first report in the data base.

Key words: dyschromatosis symmetrica hereditaria, gene mutation, ADAR1 gene