Analysis of a Chinese pedigree affected with dyschromatosis symmetrica hereditaria due to a novel variant of ADAR gene.
10.3760/cma.j.cn511374-20201015-00720
- Author:
Ke YANG
1
;
Qiaofang HOU
;
Yuwei ZHANG
;
Guiyu LOU
;
Na QI
;
Bing KANG
;
Bing ZHANG
;
Shixiu LIAO
Author Information
1. Henan Provincial Institute of Medical Genetics, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China. 1004946490@qq.com.
- Publication Type:Journal Article
- MeSH:
Adenosine Deaminase/genetics*;
China;
Female;
Humans;
Mutation;
Pedigree;
Pigmentation Disorders/congenital*;
RNA-Binding Proteins/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(1):64-67
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a Chinese pedigree affected with dyschromatosis symmetrica hereditaria (DSH).
METHODS:PCR and Sanger sequencing were carried out for the proband, and suspected variant was validated by Sanger sequencing in the pedigree.
RESULTS:The proband was found to harbor a novel variant of c.1352delA (p.N451Mfs*13) of the ADAR (NM_001111) gene. The same variant was found in her affected mother and sister, but not in her unaffected father, uncle, and 100 healthy individual.
CONCLUSION:The novel variant of the ADAR gene probably underlay the pathogenesis of DSH in this pedigree.
