1.Analysis of ADAR1 gene mutation in a pedigree affected with dyschromatosis symmetrical hereditaria.
Rong ZENG ; Drlimin@sina.cn. ; Liwei WANG ; Yun HUI ; Yanyan HE ; Pangen CUI ; Haoxiang XU ; Min LI
Chinese Journal of Medical Genetics 2018;35(3):393-396
OBJECTIVETo detect mutation of adenosine deaminase acting on RNA1 (ADAR1) gene in a pedigree affected with dyschromatosis symmetrical hereditaria (DSH).
METHODSClinical 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.
RESULTSA 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.
CONCLUSIONThe c.3463C>T missense mutation of the ADAR gene probably underlies the disease in this pedigree.
Result Analysis
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