Genetic testing for pediatric sensorineural hearing loss in the era of gene therapy.

IF 1.9 4区医学 Q2 OTORHINOLARYNGOLOGY

Current Opinion in Otolaryngology & Head and Neck Surgery Pub Date : 2024-10-01 Epub Date: 2024-08-06 DOI:10.1097/MOO.0000000000001005

A Eliot Shearer

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Abstract

Purpose of review: To summarize indications, methods, and diagnostic yields for genetic testing for pediatric hearing loss.

Recent findings: Genetic testing has become a cornerstone of clinical care for children with sensorineural hearing loss. Recent studies have shown the efficacy of gene panels and exome sequencing for any child with sensorineural hearing loss. Recent findings have underscored the importance of a diagnosis in clinical care. Clinical trials for gene therapy for hearing loss have begun.

Summary: Genetic testing has become critical for personalized care for children with hearing loss. Recent studies have shown a 43% overall diagnostic yield for genetic testing for pediatric hearing loss, though the diagnostic yield may range from 10 to 60% depending on clinical features. Syndromic diagnoses comprise 25% of positive genetic tests for pediatric sensorineural hearing loss. While diagnostic yield is lower for children with unilateral or asymmetric sensorineural hearing loss, the likelihood of syndromic hearing loss finding is higher. An early and accurate genetic diagnosis is required for participating in clinical trials for gene therapy for hearing loss.

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基因治疗时代的小儿感音神经性听力损失基因检测。

综述目的：总结小儿听力损失基因检测的适应症、方法和诊断结果：基因检测已成为感音神经性听力损失患儿临床治疗的基石。最近的研究表明，对任何感音神经性听力损失患儿进行基因检测和外显子组测序都很有效。最新研究结果强调了诊断在临床治疗中的重要性。听力损失基因治疗的临床试验已经开始。摘要：基因检测已成为听力损失儿童个性化治疗的关键。最近的研究表明，小儿听力损失基因检测的总体诊断率为 43%，但根据临床特征，诊断率可能在 10% 至 60% 之间。综合征诊断占小儿感音神经性听力损失基因检测阳性率的 25%。虽然单侧或不对称感音神经性听力损失患儿的诊断率较低，但综合征听力损失发现的可能性较高。要参加听力损失基因治疗的临床试验，必须及早进行准确的基因诊断。

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

Current Opinion in Otolaryngology & Head and Neck Surgery OTORHINOLARYNGOLOGY-

CiteScore

2.90

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Current Opinion in Otolaryngology & Head and Neck Surgery is a bimonthly publication offering a unique and wide ranging perspective on the key developments in the field. Each issue features hand-picked review articles from our team of expert editors. With eleven disciplines published across the year – including maxillofacial surgery, head and neck oncology and speech therapy and rehabilitation – every issue also contains annotated references detailing the merits of the most important papers.

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