Analysis of GJB2, SLC26A4, GJB3 and 12S rRNA gene mutations among patients with nonsyndromic hearing loss from eastern Shandong.
10.3760/cma.j.issn.1003-9406.2019.05.005
- Author:
Shiyu SUN
1
;
Linyuan NIU
1
;
Jinjun TIAN
2
;
Wei CHEN
3
;
Yanna LI
4
;
Ningning XIA
1
;
Caining JYU
1
;
Xiaoli CHEN
1
;
Chunxiao ZHANG
1
;
Xinqiang LAN
1
Author Information
1. Department of Medical Genetics, Weihai Second Hospital Affiliated to Qingdao University (Weihai Maternity and Child Health Care Hospital), Weihai, Shandong 264200, China. Email: xinqiangl@126.com.
2. Department of Equipment, Weihai Second Hospital Affiliated to Qingdao University (Weihai Maternity and Child Health Care Hospital), Weihai, Shandong 264200, China.
3. Department of Breast Surgery, Weihai Second Hospital Affiliated to Qingdao University (Weihai Maternity and Child Health Care Hospital), Weihai, Shandong 264200, China.
4. Department of Pharmacy, Weihai Second Hospital Affiliated to Qingdao University (Weihai Maternity and Child Health Care Hospital), Weihai, Shandong 264200, China.
- Publication Type:Journal Article
- MeSH:
China;
Connexin 26;
Connexins;
DNA Mutational Analysis;
DNA, Mitochondrial;
Deafness;
Genes, rRNA;
Hearing Loss;
Humans;
Mutation;
RNA, Ribosomal;
Sulfate Transporters
- From:
Chinese Journal of Medical Genetics
2019;36(5):433-438
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the characteristics of mutations of four common pathogenic genes (GJB2, SLC26A4, GJB3 and 12S rRNA) among patients with nonsyndromic hearing loss (NSHL) from eastern Shandong.
METHODS:Peripheral blood samples of 420 NSHL patients were collected, and a hereditary-deafness-gene microarray was used to detect GJB2 c.235delC, c.299-300delAT, c.35delG and c.176del16 mutations, GJB3 c.538C>T mutation, SLC26A4 c.2168A>G and c.IVS7-2A>G mutations, and 12S rRNA c.1555A>C and c.1494C>T mutations. For patients carrying single heterozygous mutations, the coding regions of the above genes were analyzed with Sanger sequencing.
RESULTS:The results of the microarray assay and Sanger sequencing showed that 84 patients (20.00%) carried GJB2 mutations, with c.235delC (16.43%) and c.299-300delAT (7.86%) being most common. Seventy-five patients (17.86%) carried SLC26A4 mutations, for which c.IVS7-2A>G accounted for 15.71%. In addition, 5.95% of patients carried 12S rRNA mutations. Only one patient was found to carried GJB3 mutation (c.538C>T).
CONCLUSION:Common pathogenic mutations for NSHL in eastern Shandong included GJB2 c.235delC and SLC26A4 c.IVS7-2A>G. Of note, 5.95% of patients were due to 12S rRNA m.1555A>G mutation, which gave a frequency greater than other regions of China.
