Congenital hearing loss: introduction of the R67 large gene panel in England.

IF 0.8 4区医学 Q3 OTORHINOLARYNGOLOGY Journal of Laryngology and Otology Pub Date : 2025-01-01 Epub Date: 2024-10-21 DOI:10.1017/S0022215124001348

Ahmed Fazili, Hannah Blanchford, Kostas Tsioulos

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Abstract

Background: Congenital hearing loss is a chronic condition which occurs worldwide. In the past, investigations focused on testing the most common genes associated with hearing loss (such as Connexin 26-related hearing loss). Targeted testing of specific genes was requested only when a particular syndrome was suspected. Recent advances have led to the development of a large gene panel which utilises next-generation sequencing to simultaneously test for pathogenic variants in many genes associated with hearing loss.

Aim: This review article aims to highlight the changes in the approach to congenital hearing loss in the context of the R67 gene panel, and how its use may increase the efficiency of the diagnosis and management of this condition.

Conclusion: The use of this large gene panel has revolutionised the approach to hearing loss. Uptake of this large gene panel has resulted in prompter diagnosis and therefore more appropriate clinical management.

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先天性听力损失 - 在英格兰引入 R67 大基因面板。

背景：先天性听力损失是一种世界性的慢性疾病。过去，调查主要集中在测试与听力损失相关的最常见基因（如Connexin 26相关的听力损失）。只有当怀疑有特定综合征时，才要求对特定基因进行有针对性的检测。最近的进展导致了一个大型基因小组的发展，该小组利用下一代测序来同时测试与听力损失相关的许多基因的致病变异。目的：这篇综述文章旨在强调在R67基因面板的背景下先天性听力损失方法的变化，以及它的使用如何提高这种疾病的诊断和治疗效率。结论：这种大型基因面板的使用彻底改变了听力损失的治疗方法。这个大的基因面板的吸收导致了提示诊断，因此更适当的临床管理。

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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来源期刊

Journal of Laryngology and Otology 医学-耳鼻喉科学

CiteScore

3.20

自引率

11.80%

发文量

593

审稿时长

3-6 weeks

期刊介绍： The Journal of Laryngology & Otology (JLO) is a leading, monthly journal containing original scientific articles and clinical records in otology, rhinology, laryngology and related specialties. Founded in 1887, JLO is absorbing reading for ENT specialists and trainees. The journal has an international outlook with contributions from around the world, relevant to all specialists in this area regardless of the country in which they practise. JLO contains main articles (original, review and historical), case reports and short reports as well as radiology, pathology or oncology in focus, a selection of abstracts, book reviews, letters to the editor, general notes and calendar, operative surgery techniques, and occasional supplements. It is fully illustrated and has become a definitive reference source in this fast-moving subject area. Published monthly an annual subscription is excellent value for money. Included in the subscription is access to the JLO interactive web site with searchable abstract database of the journal archive back to 1887.