Mutation Detection in MYO15A Gene in an Iranian Family with Non-Syndromic Hearing Loss

CASE REPORT
Mostafa Neissi, Misagh Mohammadi-Asl, Mojdeh Roghani, Adnan Issa Al-Badran, Javad Mohammadi-Asl

 
For citation: Neissi M, Mohammadi-Asl M, Roghani M, Al-Badran AI, Mohammadi-Asl J. Mutation Detection in MYO15A Gene in an Iranian Family with Non-Syndromic Hearing Loss. International Journal of Biomedicine. 2024;14(1):165-169. doi:10.21103/Article14(1)_CR3
 
Originally published March 1, 2024
Published without substantive editing per OFAC Guidance.

Abstract: 

Hearing loss, recognized as one of the most prevalent sensory disorders, encompasses both syndromic and non-syndromic manifestations, with the identification of 87 genes and over 100 genetic loci in autosomal recessive non-syndromic hearing loss marking significant progress in understanding its genetic basis. In this case report, we showcase a non-syndromic hearing loss scenario involving a 21-year-old man experiencing progressive hearing loss. Through whole-exome sequencing, we unveiled a previously unreported homozygous mutation, c.1178_1179delAC; p.Tyr393Serfs*38, located in exon 2 (NM_016239.4) of the MYO15A gene in the proband. The newly identified mutation, causing a new reading frame (p.Tyr393Serfs*38), results in an early encounter with a stop codon, leading to the formation of a shortened protein. These findings advance our understanding of the molecular mechanisms involved in autosomal recessive non-syndromic hearing loss, contributing to broader scientific knowledge and potential breakthroughs in hearing loss research.

Keywords: 
hearing loss • MYO15A gene • mutation
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Received December 12, 2023.
Accepted January 18, 2024.
©2024 International Medical Research and Development Corporation.