Identification of a novel c. 2633_2634del CT variant of the ADAR gene in a patient with dyschromatosis symmetrica hereditaria
10.3760/cma.j.issn.1003-9406.2019.11.010
- VernacularTitle: 遗传性对称性色素异常症患者的ADAR基因c.2633_2634del CT新变异
- Author:
Lingyan ZHENG
1
;
Ping YUAN
1
;
Weiping DENG
2
Author Information
1. Reproductive Medicine Center, Sun Yat-sen Memorial Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510120, China
2. Dermatological Department of Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong 510080, China
- Publication Type:Clinical Trail
- Keywords:
Dyschromatosis symmetrica hereditaria;
ADAR gene;
Variant
- From:
Chinese Journal of Medical Genetics
2019;36(11):1097-1099
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic etiology of two unrelated patients with dyschromatosis symmetrica hereditaria.
Methods:Variant analysis of the ADAR gene was carried out by Sanger sequencing.
Results:Patient 1 was found to harbor a c. 2633_2634delCT (p.Ser878fs) in exon 8 of the ADAR gene. The same variant was not found among 100 unrelated individuals. No pathogenic variant of the ADAR gene was found in patient 2. Functional prediction of the ADAR c. 2633_2634delCT (p.Ser878fs) variant indicated it to be pathogenic by losing a catalytic structural domain.
Conclusion:The c. 2633_2634delCT (p.Ser878fs) variant of the ADAR gene probably underlies the pathogenesis of DSH in one of the patients.
