Analysis of GJB2 gene and mitochondrial DNA A1555G mutations in 16 families with non-syndromic hearing loss.
- Author:
Wei WANG
1
;
Hong-bo CHENG
;
Nian YANG
;
Yi-chao SHI
;
Jin-zhi LIU
;
Qin LI
;
Shen-min YANG
;
Li-yan SHEN
;
Min-juan LIU
;
Ying CHEN
;
Hong LI
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Base Sequence; Child; Child, Preschool; Connexin 26; Connexins; genetics; DNA, Mitochondrial; genetics; Female; Genetic Predisposition to Disease; Hearing Loss; genetics; Heterozygote; Homozygote; Humans; Infant; Male; Molecular Sequence Data; Mutation; Pedigree; RNA, Ribosomal; genetics
- From: Chinese Journal of Medical Genetics 2012;29(4):388-392
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo screen for genetic mutations in families featuring non-syndromic hearing loss.
METHODSSixteen families with non-syndromic hearing loss were interviewed to identify medical histories by a questionnaire. Audiological and neurological examinations were conducted for all families. Coding regions of GJB2 and 12S rRNA genes were amplified and sequenced.
RESULTSOf the 17 patients with sensorineural hearing loss, 3 were homozygous mutation for GJB2 235 delC, 1 was 235 delC heterozygous mutation, 1 was 235 delC+299_300 delAT compound heterozygous mutation, and 6 were 79G>A+341G>A heterozygosis in cis mutation. No 1555A>G mutation of mitochondrial DNA (mtDNA) was found in the 16 families.
CONCLUSIONThe incidence of mtDNA 12S rRNA 1555A>G mutation in Jiangsu province may be lower than the average across China. Mutations of GJB2 genes may account for as much as 64.7% of non-syndromic hearing loss in this study. Screening for such mutations and genetic counseling may play an important role in the prevention of hereditary hearing loss.
