A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss.

Q3 Medicine

Iranian Journal of Otorhinolaryngology Pub Date : 2024-01-01 DOI:10.22038/IJORL.2023.69889.3372

Mostafa Neissi, Adnan Issa Al-Badran, Javad Mohammadi-Asl

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引用次数: 0

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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一种新型致畸 MYO15A 基因突变导致非综合征性听力损失。

简介听力损失（HL）是最常见的感官神经缺陷，在全球范围内影响着广泛的个体。在这种情况下，遗传因素的作用就显得尤为重要，尤其是在遗传性听力损失病例中：在此，我们提交了一份非综合征 HL（NSHL）病例报告。患者是一名 21 岁的男性，患有进行性 HL。全外显子组测序（WES）显示，该患者的 MYO15A 基因第 61 号外显子存在一个新的同卵错义突变，即 c.9908A>C; p.Lys3303Thr。进一步分析表明，检测到的突变在父母中以杂合状态存在：结论：本研究中的 WES 分析发现了 MYO15A 基因的一个新突变。我们的数据表明，MYO15A-p.Lys3303Thr 突变可能是与 NSHL 相关的致病变异。此外，这一发现加强了对NSHL患者的遗传咨询，凸显了WES方法在检测罕见遗传变异方面的价值。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Iranian Journal of Otorhinolaryngology Medicine-Otorhinolaryngology

CiteScore

1.30

自引率

0.00%

发文量

审稿时长

12 weeks