Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews

Abstract

Background: Hearing impairment (HI) is a heterogeneous disorder. GJB2 and GJB6 genes are typically the first line of genetic screening before proceeding to any massive parallel sequencing. We evaluated the clinical utility of GJB2 and GJB6 testing in the Iranian population. Methods: GJB2 and GJB6 were sequenced. PubMed and Google Scholar were searched for Iranian publications on deletions in the DFNB1 locus. Results: We detected mutations of GJB2 in 16.5%, and no mutations of GJB6. Literature review revealed no reports of mutations of GJB6 in the Iranian population. Conclusion: This data and literature reviews indicate that GJB6 is not commonly responsible for Iranian nonsyndromic HI. Hence, the clinical utility of GJB6 genetic analysis as a first line for HI evaluation does not have the same utility as GJB2. The study is consistent with recent studies emphasizing the role of ethnicity in the selection of HI genetic testing strategy.

Keywords:

• genetic testing
• DFNB1
• GJB2
• GJB6
• next-generation sequencing

Acknowledgements

We gratefully appreciate all patients and their families for participating in this scientific research. We appreciate the audiometry clinic and, Ear, Nose, and Throat Department of the Rasoul Akram Hospital of Iran University of Medical Science, and the Taban Medical Center for their kind cooperation during this research.

Additional information

Funding

This research was funded by ENT and Head & Neck Research Center and Department, Iran University of Medical Sciences.