A Nonsense Mutation In MYO7A: The Cause Of Non-Syndromic Hearing Loss In An Indian Family

Abstract

The MYO7A gene encodes the protein myosin VIIA, sometimes referred to as MYO7A. Non-syndromic hearing loss, in which the deafness develops without any other symptoms, has been associated with a number of mutations in the MYO7A gene. Mutations in this gene may result in two forms of non-syndromic hearing loss: DFNA11 and DFNB2. We attempted to find MYO7A mutations from a few Indian families with non-syndromic hearing loss after taking into account their substantial impact. Four members of an Indian family were found to have inherited hearing loss based on the findings of the current inquiry. The investigation of this family indicates that MYO7A has the homozygous stop gain variant p.Arg1373Stop; c.4117C>T; chr11:77,192,243C>T [hg 38]; p.Arg1373Stop. This premature stop codon (p.Arg1373Stop) in MYO7A increases the likelihood that this family will experience autosomal recessive non-syndromic hearing loss. The p.Arg1373Stop variation is the cause of MYO7A-related inherited hearing loss, which has been reported for the first time in India. This project will raise awareness of hereditary disorders in our community, potentially leading to better patient diagnosis and counseling in the future. The information this research project disseminates may also lead to the development of future treatment treatments for certain ailments.