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ISSN 2063-5346
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Nonsense variant in MYO7A underlies non-syndromic hearing loss in an Indian family

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SANDIP HURPADE, NEELAM KHAN, GAURAV HARLALKA, JAMAL NASIR
» doi: 10.48047/ecb/2023.12.si4.1186

Abstract

Myosin VIIA (also known as MYO7A) is a protein that is encoded by the MYO7A. Several mutations in the MYO7A have been linked to non-syndromic hearing loss, in which the deafness occurs independently of any other symptoms. DFNA11 and DFNB2 are two types of non-syndromic hearing loss that may be caused by mutations in this gene. After considering the significant impact of MYO7A mutations, we tried to identify the same from some Indian families suffering from non-syndromic hearing loss. According to the results of the present investigation, four members of a Maharashtrian family were found to have inherited hearing loss. The results of this family's investigation point to the chr11:77,192,243C>T [hg 38]; c.4117C>T; p.Arg1373Stop homozygous stop gain variant in MYO7A. This family has a high probability of having autosomal recessive non-syndromic hearing loss due to this premature stop codon (p.Arg1373Stop) in MYO7A. This is the first report documenting MYO7A-related inherited hearing loss in India, and it is caused by the p.Arg1373Stop variant. As a result of this study, more people in our community will become aware of genetic illnesses, which might improve future patient diagnosis and counseling. In future, treatment therapies for these illnesses may also develop as a result of information disseminated by this research work.

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