Diagnostic yield of genetic testing in adults with sensorineural hearing loss

Acta otorrinolaringologica espanola Pub Date : 2024-05-01 DOI:10.1016/j.otoeng.2023.10.007

Sara Reda del Barrio , Joaquín de Vergas Gutiérrez , Juan Francisco Quesada-Espinosa , María Teresa Sánchez-Calvín , Irene Gómez-Manjón , Olalla Sierra-Tomillo , Alexandra Juárez-Rufián , Alfredo García Fernández

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Abstract

Introduction

The contribution of genetic causes to sensorineural hearing loss (SNHL) in adults is less clear than in children, and genetic diagnosis is still not standardized in adults. In this study we present the genetic results obtained in a cohort of adult patients with SNHL.

Materials and methods

We included 63 adults with SNHL that received genetic testing between 2019 and 2022. Whole exome sequencing was performed and variants in genes related to hearing loss (virtual panel with 244 genes) were prioritised and analysed.

Results

24% (15/63) of patients were genetically diagnosed: 87% (13/15) of patients had non-syndromic hearing loss and 13% (2/15) had syndromic hearing loss. We identified pathogenic and likely pathogenic variants in 11 different genes.

Conclusions

Our results show that a significant proportion of adults with SNHL have a genetic origin, and that implementation of genetic testing improves diagnostic accuracy and allows personalized management of these patients.

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感音神经性听力损失成人基因检测的诊断率。

导言：与儿童相比，遗传因素对成人感音神经性听力损失（SNHL）的影响并不明显，而且成人的遗传诊断仍未标准化。在本研究中，我们介绍了一组成年 SNHL 患者的基因检测结果：我们纳入了在 2019 年至 2022 年期间接受基因检测的 63 名 SNHL 成人患者。进行了全外显子组测序，并优先分析了与听力损失相关的基因变异（包含 244 个基因的虚拟面板）.结果：24%（15/63）的患者得到了基因诊断：结果：24%（15/63）的患者得到了基因诊断：87%（13/15）的患者患有非综合征性听力损失，13%（2/15）的患者患有综合征性听力损失。我们在 11 个不同的基因中发现了致病变体和可能致病的变体：我们的研究结果表明，相当一部分成年 SNHL 患者有遗传病史，实施基因检测可提高诊断准确性，并对这些患者进行个性化管理。

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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Acta otorrinolaringologica espanola

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