Analysis of Gene in Individuals with Non Syndromic Hearing Impairment in Relation with Associated Mutations.

BACKGROUND

Hearing Loss (HL) is the most common sensory disorder. HL commonly ranges from mild to severe. Persons with HL face difficulty in hearing conversations or sounds through one ear or both ears, which impacts one's ability to interact with others. Hence it is a communicable disorder that makes people socially isolated, lonely, and frustrated. HL in children severely affects language development. The people who are referred to as 'Deaf' with very little or no hearing capabilities, are considered as having profound hearing loss. More than 124 genes are causative for Non-Syndromic HL (NSHL) with varying inheritance, among which the mutations are the second commonest cause of hereditary HL across the globe.

METHODS

Samples from 70 NSHL patients were analyzed through (NGS) and generated five pathogenic variants [N246fs (rs918684449), K564fs (rs746427774), F122fs, V239D (rs111033256), T721M (rs121908363)] each with frequency of 1.42%. Three missense variants [S399P (rs747431002), L597S (rs55638457), and G6V (rs111033423)] were reported under the "uncertain" category. All the collected samples were further genotyped to look for the possibility of having and HL-associated mutations.

RESULTS

Out of five pathogenic mutations N246fs (rs918684449) and K564fs (rs746427774) were observed in samples which were positive for -HL associated candidate mutations [W24X (rs104894396), Q124X (rs397516874) and W77X (rs80338944)]. Similarly, pathogenic variants F122fs, V239D (rs111033256) and T721M (rs121908363) were observed in patient samples which were negative for -HL associated mutations.

CONCLUSION

Our data will expand the list of variants underlying NSHL and encourage further genotype gene concerning the south Indian population with a large sample size.