Mutational analysis of 117 patients with non-syndromic hearing loss.
10.3760/cma.j.issn.1003-9406.2019.02.003
- Author:
Leilei WANG
1
;
Ying GU
;
Shuting YANG
;
Huafen MAO
;
Xinxin TANG
;
Tianlong XU
;
Min WU
;
Yuhua SUN
;
Xiucui LUO
Author Information
1. Lianyungang Maternal and Child Health Care Hospital, Jiangsu 222002, China. 124938192@qq.com.
- Publication Type:Journal Article
- MeSH:
China;
Connexins;
DNA Mutational Analysis;
DNA, Mitochondrial;
Hearing Loss;
genetics;
Humans;
Membrane Proteins;
Mutation;
Sulfate Transporters
- From:
Chinese Journal of Medical Genetics
2019;36(2):108-111
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To determine the frequencies of deafness gene mutations among patients with non-syndromic hearing loss (NSHL) from northern Jiangsu province.
METHODS:A total of 117 patients with NSHL were enrolled. The coding region of GJB2 gene, IVS7-2A>G and 2168A>G mutations of SLC26A4 gene, and 1555A>G and 1494C>T mutations of mitochondrial DNA 12S rRNA were subjected to Sanger sequencing. Patients in whom no mutation was detected were further tested by targeted gene capture and high-throughput sequencing.
RESULTS:Among the 117 patients, 86 (73.50%) were found to carry mutations. GJB2 gene mutations were found in 61 patients (52.14%), including 22 (18.80%) with homozygous mutations and 39 (33.33%) with heterozygous mutations. SLC26A4 gene mutations were found in 19 patients (16.24%), including 4 (3.42%) with homozygous mutations and 15 with heterozygous mutations (14.53%). Mitochondrial 12S rRNA gene mutation was found in 6 patients (5.13%). Targeted gene capture and high-throughput sequencing of 8 patients identified 4 further cases, including 1 with RDX gene 129_130del and 76_79del compound heterozygous mutations, 1 with OTOF gene 1274G>C homozygous mutation, 1 with SLC26A4 gene 919-2A>G and IVS16-6G>A compound heterozygous mutation, and 1 with SLC26A4 gene 919-2A>G and A1673T compound heterozygous mutation.
CONCLUSION:The frequency of mutation among patients with NSHL from north Jiangsu was 73.50%, and GJB2 gene was most commonly mutated.
