Detection of ADAR1 gene mutation in a family with dyschromatosis symmetrica hereditaria / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect mutation of ADAR1 gene in a family affected with dyschromatosis symmetrica hereditaria.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>The frameshift mutation of ADAR1 gene (c.2252insG) is probably responsible for the disease in this family.</p>