A Novel Deleterious MYO۱۵A Gene Mutation Causes Nonsyndromic Hearing Loss

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 ۲۱-year-old man with progressive HL. The whole-exome sequencing (WES) demonstrated a novel homozygous missense mutation, c.۹۹۰۸A>C; p.Lys۳۳۰۳Thr, in the proband's exon ۶۱ of the MYO۱۵A 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 MYO۱۵A gene. Our data indicates that the MYO۱۵A-p.Lys۳۳۰۳Thr 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.

Keywords:

Hearing Loss , MYO۱۵A gene , Mutation