感音神经性听力损失成人基因检测的诊断率

IF 0.9 Q3 OTORHINOLARYNGOLOGY

Acta otorrinolaringologica espanola Pub Date : 2024-05-01 DOI:10.1016/j.otorri.2023.10.003

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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引用次数: 0

摘要

导言与儿童相比，成人感音神经性听力损失（SNHL）的遗传原因不太明确，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 SNHL 成年患者的遗传结果。材料与方法我们纳入了在 2019 年至 2022 年期间接受遗传检测的 63 名 SNHL 成年患者。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）：87%的患者（13/15）患有非综合征性听力损失，13%的患者（2/15）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。结论我们的研究结果表明，相当一部分患有 SNHL 的成人有遗传病史，基因检测的实施提高了诊断的准确性，并能对这些患者进行个性化管理。

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查看原文本刊更多论文

Rendimiento diagnóstico del estudio genético en adultos con hipoacusia neurosensorial

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 method

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 prioritized and analyzed.

Results

Twenty-four percent (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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来源期刊

Acta otorrinolaringologica espanola OTORHINOLARYNGOLOGY-

CiteScore

1.40

自引率

20.00%

发文量

审稿时长

44 days

期刊介绍： Es la revista más importante en español dedicada a la especialidad. Ofrece progresos científicos y técnicos tanto a nivel de originales como de casos clínicos. Además, es la Publicación Oficial de la Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial y está presente en los más prestigiosos índices de referencia.