[Analysis of ADAR1 gene mutation in a pedigree affected with dyschromatosis symmetrical hereditaria].

OBJECTIVE

To detect mutation of adenosine deaminase acting on RNA1 (ADAR1) gene in a pedigree affected with dyschromatosis symmetrical hereditaria (DSH).

METHODS

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.

RESULTS

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.

CONCLUSION

The c.3463C>T missense mutation of the ADAR gene probably underlies the disease in this pedigree.