Analysis and prenatal diagnosis of deafness-related gene mutations in patients with nonsyndromic hearing loss.
- Author:
Huanzheng LI
1
;
Yunying CHEN
;
Yijian MAO
;
Yi DING
;
Xueqin XU
;
Shaohua TANG
Author Information
- Publication Type:Journal Article
- MeSH: Connexin 26; Connexins; genetics; DNA Mutational Analysis; DNA, Mitochondrial; chemistry; genetics; Deafness; diagnosis; genetics; Family Health; Female; Genetic Predisposition to Disease; genetics; Hearing Loss; diagnosis; genetics; Humans; Male; Membrane Transport Proteins; genetics; Molecular Sequence Data; Mutation; Pedigree; Pregnancy; Prenatal Diagnosis; methods; RNA, Ribosomal; genetics; Reproducibility of Results; Sensitivity and Specificity
- From: Chinese Journal of Medical Genetics 2014;31(5):553-556
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze deaf-related genes in patients with nonsyndromic hearing loss (NSHL) and set up a prenatal diagnosis system for such patients.
METHODSNine NSHL families were collected. Potential mutations of GJB2 (35delG, 176del16, 235delC, 299delAT), SLC26A4 (2168A> G, IVS7-2A> G), GJB3 (538C> T) and mtDNA (1494C> T, 12S rRNA 1555A> G) were detected by direct sequencing. Maternal blood contamination was excluded prior to the testing.
RESULTSSixteen patients from 4 families were detected with GJB2 mutations, 8 patients from 2 families were found with SLC26A4 mutations, and 4 patients from 2 families were found with mutations in mtDNA. For 2 patients from one remaining family, no mutations were found with above genes.
CONCLUSIONA diagnostic system for NSHL has been established, which may provide a basis for prenatal diagnosis and genetic counseling to NSHL families.
