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Case Reports
. 2024 Jan;36(1):355-360.
doi: 10.22038/IJORL.2023.69889.3372.

A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss

Mostafa Neissi  1 , Adnan Issa Al-Badran  2 , Javad Mohammadi-Asl  3
Affiliations
Case Reports

A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss

Mostafa Neissi et al. Iran J Otorhinolaryngol. 2024 Jan.

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.

Keywords: Hearing loss; MYO15A gene; Mutation.

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Figures

Fig 1
Fig 1
Pedigree of the studied family with an autosomal recessive pattern of inheritance.
Fig 2
Fig 2
Sanger sequencing chromatograms of chromosome 17 at position 18166481 for the patient (A) and his parents (B,C) are shown.
See this image and copyright information in PMC

References

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