A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss.

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 pa

SUBMITTER: Neissi M 

PROVIDER: S-EPMC10800138 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature