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[Analysis of ADAR1 gene mutation in a pedigree affected with dyschromatosis symmetrical hereditaria]
Rong Zeng1, Liwei Wang, Yun Hui
1Institute of Dermatology, Chinese Academy of Medical Sciences & Peking Union Medical College, Nanjing, Jiangsu 210042, China. xbpipi@163.com; drlimin@sina.cn.
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.
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