GJB2, SLC26A4, and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China

Abstract

Conclusion: In this cohort of 156 non-syndromic hearing-impaired subjects of Tengzhou area, the most common deafness-associated genes GJB2, SLC26A4 and mtDNA 12S rRNA were investigated by SNPscan efficiently. GJB2 c.235delC and SLC26A4 c.IVS7-2A > G were the most common mutation sites. Objectives: Until now, there is no systematic gentic analysis in patients with non-syndromic hearing loss for Tengzhou area, so we evaluated the molecular etiology to investigate the hot-sports. Methods: Peripheral blood samples were obtained from 156 patients with severe-to-profound non-syndromic deafness in Tengzhou. The SNP scan assay technique was performed for a rapid multiplex genetic screening to detect the 115 mutations of the most common three genes. All results were statistically analyzed with SPSS software. Results: Among the 156 analyzed patients, 60 patients were demonstrated with deafness genes, accounting for 38.46% (60/156), including GJB2 (22.44%, 35/156), SLC26A4 (13.66%, 22/156), and mtDNA 12S rRNA (2.56%, 4/156). In this study, we confirmed 23 deafness-causing mutations and 27 different allelic combinations including GJB2 (eight variants, 11 allelic combinations), SLC26A4 (13 variants, 16 allelic combinations) and mtDNA 12S rRNA (two variants). The occurrence rates of these deafness-causing mutations GJB2 c.235delC and SLC26A4 c.IVS7-2A > G were significantly higher than other mutation sites (p < 0.01).

Keywords:

• Genes testing
• SNPscan
• mutation spectrum
• non-syndromic deafness

Acknowledgments

We thank all the patients who participated and everyone involved in the study. This work was supported by grants from the National 973 Basic Research Program of China (No. 2014CB541703), grants from the National Natural Science Foundation of China (81470693, 81200744), and a grant from the Youth Fund Project of Shandong Provincial Medical Technology Development Plan (2011WSB02002). We sincerely thank all the family members for their participation and co-operation in this study.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.