A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss
| Autor: | Mostafa Neissi, Adnan Al-Badran, Javad Mohammadi-Asl |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Iranian Journal of Otorhinolaryngology, Vol 36, Iss 1, Pp 355-360 (2024) |
| Druh dokumentu: | article |
| ISSN: | 2251-7251 2251-726X |
| DOI: | 10.22038/ijorl.2023.69889.3372 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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