Clinical utility of exome sequencing in hearing loss: a retrospective cohort study.

IF 2.8 3区生物学 Q2 GENETICS & HEREDITY

Frontiers in Genetics Pub Date : 2025-09-10 eCollection Date: 2025-01-01 DOI:10.3389/fgene.2025.1643537

Chang Liu, Yanlin Huang, Anpeng Fu, Yunan Wang, Jing Wu, Yan Zhang, Li Du, Hongke Ding, Lihua Yu, Fake Li, Yiming Qi, Yuan Liu, Xingwang Wang, Yukun Zeng, Ling Liu, Ying Xiong, Yuanling Liu, Xin Zhao, Liyuan Fang, Jiayi Jian, Aihua Yin, Yanqin You

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Abstract

Background: Hearing loss (HL) is a prevalent sensorineural disorder with a highly heterogeneous etiology. Next-generation sequencing (NGS) has revolutionized the genetic testing landscape for diseases characterized by high genetic and allelic heterogeneity, enabling the simultaneous screening of hundreds of genes.

Methods: One hundred and seventy-one unrelated patients with non-syndromic or syndromic HL were enrolled in this study. Exome sequencing (ES) was applied to explore molecular etiology in the cohort, and clinical reports were provided by geneticists and genetic counselors. Multidisciplinary team forums were conducted to ensure accurate diagnoses and improved patient management.

Results: The molecular cause of HL was determined in 78 of 171 probands (45.6%): 54 with an autosomal recessive (AR) inheritance pattern, 23 with an autosomal dominant (AD) pattern, and 1 with both AR/AD inheritance patterns. Candidate variants in 33 genes were identified in the study cohort: 14 with an AR inheritance pattern, 18 with an AD pattern, and 1 with both AR/AD inheritance patterns. Twenty-eight of the variants identified in the study were novel.

Conclusion: Exome sequencing facilitates genetic diagnosis and improves the management of patients with HL in clinical practice. Identifying the etiology of HL may improve patient care, refine genetic counseling, and facilitate the estimation of recurrence risk.

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外显子组测序在听力损失中的临床应用：一项回顾性队列研究。

背景：听力损失（HL）是一种常见的感觉神经系统疾病，其病因具有高度异质性。新一代测序（NGS）彻底改变了以高遗传和等位基因异质性为特征的疾病的基因检测领域，使数百个基因同时筛查成为可能。方法：171例非综合征型或综合征型HL患者纳入本研究。应用外显子组测序（ES）探索该队列的分子病因，并由遗传学家和遗传咨询师提供临床报告。进行多学科小组论坛，以确保准确诊断和改善患者管理。结果：在171例先知者中，有78例（45.6%）确定了HL的分子病因，其中常染色体隐性遗传54例，常染色体显性遗传23例，AR/AD双遗传1例。在研究队列中确定了33个基因的候选变异：14个具有AR遗传模式，18个具有AD遗传模式，1个具有AR/AD遗传模式。研究中发现的28种变异是新发现的。结论：外显子组测序有助于临床对HL患者的遗传诊断和管理。确定HL的病因可以改善患者护理，完善遗传咨询，并促进复发风险的估计。

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

Frontiers in Genetics Biochemistry, Genetics and Molecular Biology-Molecular Medicine

CiteScore

5.50

自引率

8.10%

发文量

3491

审稿时长

14 weeks

期刊介绍： Frontiers in Genetics publishes rigorously peer-reviewed research on genes and genomes relating to all the domains of life, from humans to plants to livestock and other model organisms. Led by an outstanding Editorial Board of the world’s leading experts, this multidisciplinary, open-access journal is at the forefront of communicating cutting-edge research to researchers, academics, clinicians, policy makers and the public. The study of inheritance and the impact of the genome on various biological processes is well documented. However, the majority of discoveries are still to come. A new era is seeing major developments in the function and variability of the genome, the use of genetic and genomic tools and the analysis of the genetic basis of various biological phenomena.