A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss

Overview

Journal Iran J Otorhinolaryngol

Publisher Mashhad University of Medical Sciences

Specialty Otorhinolaryngology

Date 2024 Jan 23

PMID 38259694

Authors

Mostafa Neissi

Adnan Issa Al-Badran

Javad Mohammadi-asl

Affiliations

Soon will be listed here.

Abstract

Introduction: Hearing loss (HL) is the most frequent sensory neurodeficiency, affecting a broad spectrum of individuals globally. Within this context, the role of genetic factors takes center stage, particularly in cases of hereditary HL.

Case Report: Here, we present a nonsyndromic HL (NSHL) case report. The patient is a 21-year-old man with progressive HL. The whole-exome sequencing (WES) demonstrated a novel homozygous missense mutation, c.9908A>C; p.Lys3303Thr, in the proband's exon 61 of the MYO15A gene. Further analysis has revealed that the detected mutation is present in a heterozygous state in the parents.

Conclusion: WES analysis in this study revealed a novel mutation in the MYO15A gene. Our data indicates that the MYO15A-p.Lys3303Thr mutation is the likely pathogenic variant associated with NSHL. Additionally, this finding enhances genetic counseling for individuals with NSHL patients, highlighting the value of the WES method in detecting rare genetic variants.

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