Abstract: Objective: To identify the mutation of ADAR1 gene in a family with dyschromatosis symmetrical hereditaria (DSH). Methods: Genomic DNA was extracted from the peripheral blood of the family members (including 2 patients and 2 unaffected members) and 50 healthy controls. All the exons of ADAR1 gene and their flanking intronic sequences were amplified by PCR and direct sequencing was performed to screen the mutations in gene. Results: A missense mutation (c.662C＞T) in ADAR1 gene was identified in the two patients and none mutation was found in 2 normal family members and healthy controls. Conclusion: The missense mutation (c.662C＞T) in the ADAR1 gene probably underlies the DSH in this family, which is the first report in the date base.

Key words: dyschromatosis symmetrica hereditaria, ADAR1, gene mutation