Two novel mutations of the ADAR1 gene associated with dyschromatosis symmetrica hereditaria.
- Author:
Yiping LIU
1
;
Zhengzhong ZHANG
;
Yunzhu MU
;
Fen XIONG
;
Xing CHEN
;
Hao YANG
;
Ping YANG
;
Linli LIU
Author Information
- Publication Type:Journal Article
- MeSH: Adenosine Deaminase; genetics; Adult; Asian Continental Ancestry Group; genetics; Base Sequence; China; Codon, Nonsense; Exons; Female; Frameshift Mutation; Humans; Male; Molecular Sequence Data; Pedigree; Pigmentation Disorders; congenital; enzymology; genetics; RNA-Binding Proteins; genetics
- From: Chinese Journal of Medical Genetics 2016;33(2):173-176
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify potential mutation of the ADAR1 gene in a Chinese family and a sporadic case affected with dyschromatosis symmetrica hereditaria(DSH).
METHODSClinical data and peripheral blood samples from the pedigree and the sporadic patient were collected. Following extraction of genomic DNA, all 15 exons and exon-intron flanking sequences of the ADAR1 gene were amplified by polymerase chain reaction and subjected to direct sequencing.
RESULTSA novel frame-shift mutation c.2638delG (p.Asp880ThrfsX15) from the patients of the pedigree was detected in exon 8 of the ADAR1 gene. And a novel nonsense mutation c.2867C>A (p.Ser956X) was detected in exon 10 of the ADAR1 gene from the sporadic case. Neither mutation was identified among the unaffected family members nor 100 unrelated healthy controls.
CONCLUSIONThe frame-shift mutation c.2638delG (p.Asp880ThrfsX15) and the nonsense mutation c.2867C>A (p.Ser956X) in the ADAR1 gene probably underlie the DSH in our patients.
