Analysis of ADAR1 gene mutation in a pedigree affected with dyschromatosis symmetrical hereditaria / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect mutation of adenosine deaminase acting on RNA1 (ADAR1) gene in a pedigree affected with dyschromatosis symmetrical hereditaria (DSH).</p><p><b>METHODS</b>Clinical data and peripheral blood samples of the patients from the pedigree were collected. Potential mutations of the ADAR1 gene were screened among 2 patients, 2 unaffected individual from the pedigree as well as 50 unrelated healthy controls by PCR amplification and direct sequencing.</p><p><b>RESULTS</b>A c.3463C>T (p.R1155W) missense mutation of the ADAR gene was identified in the 2 patients, which was absent in the 2 healthy relatives and 50 unrelated controls. The mutation has been previously identified among 5 Chinese families and was the most common mutation site.</p><p><b>CONCLUSION</b>The c.3463C>T missense mutation of the ADAR gene probably underlies the disease in this pedigree.</p>