Abstract: Objective: To detect the mutation in ARAD gene in a pedigree with dyschromatosis symmetrica hereditaria. Methods: Genomic DNA was extracted from peripheral blood of the patients, healthy family members and 100 unrelated healthy controls. All the exons of ADAR gene were amplified by polymorphism chain reaction (PCR) and the products were purified and directly sequenced. Results: In exon 2 of the ADAR gene, a nonsense mutation c.982G＞T (p.R328X) was identified, which was not detected in the unaffected healthy family members and the controls. The mutation resulted in the premature transcription termination. Conclusion: A recurrent nonsense mutation c.982G＞T was identified，which may be associated with dyschromatosis symmetrica hereditaria in this family.

Key words: dyschromatosis symmetrica hereditaria, ADAR gene, DSRAD gene