[Detection of ADAR1 gene mutation in a family with dyschromatosis symmetrica hereditaria].

Objective: To detect mutation of ADAR1 gene in a family affected with dyschromatosis symmetrica hereditaria.

Methods: Clinical data and blood samples of the family were collected. Potential mutation of the ADAR1 gene were scanned in 3 patients and 3 unaffected members by PCR amplification and direct sequencing. The coding sequences of the ADAR1 were also screened in 50 normal controls.

Results: A frameshift mutation (c.2252insG) of the ADAR1 gene was identified in all of the 3 patients. The same mutation was not found in the 3 unaffected members and 50 normal cases.

Conclusion: The frameshift mutation of ADAR1 gene (c.2252insG) is probably responsible for the disease in this family.