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下一代测序改进了听力损失的精准医学

T Imizcoz¹, C Prieto-Matos², R Manrique-Huarte²

¹CIMA LAB Diagnostics, University of Navarra, Pamplona, Spain.

Frontiers in genetics

|October 9, 2023

概括

下一代测序 (NGS) 基因组测试有助于早期诊断听力损失,改善儿童的发育. 这项研究表明,NGS小组有效地识别了各种遗传变异,减少了诊断时间并支持临床实施.

科学领域:

遗传学遗传学是一个
基因组学就是基因组学.
听力学听力学是指听力学.

背景情况:

听力损失的早期病因诊断对于儿童的语言和认知发展至关重要.
听力损失表现出高的遗传和基异质性.
下一代测序 (NGS) 基因组测试可以加速诊断.

研究的目的:

评估一个定制的NGS GHELP面板的临床实用性,用于诊断西班牙人的听力损失.
确定与听力损失相关的核和线粒体基因中病原体变异 (SNV,indels,CNV) 的流行率.

主要方法:

使用定制NGS GHELP面板对171个核和8个线粒体基因进行测序.
对155名听力受损的西班牙人进行分析.
单核酸变体,indels和副本数变体的识别.

主要成果:

在34% (52/155) 个体中实现了遗传诊断,其中5%是综合征.
自体逆向 (87%) 和主导 (12%) 遗传模式是最常见的;线粒体 (2%) 也被确定.
常见的基因 (GJB2,OTOF,MYO7A) 和不太常见的基因 (TMC1,FGF3,mitCOX1) 都与此有关. 在5%的确诊病例中发现了致病性拷贝数变异.

结论:

NGS面板有效地识别核和线粒体基因中的多种致病变体 (SNV,indels,CNV).
这种方法显著减少了听力损失的诊断旅程.
建议临床实施基因组策略,包括新生儿查.

关键词:

国家储备系统 (NGS)诊断诊断诊断诊断诊断诊断基因面板基因面板基因面板听力损失听力损失是什么精准医学是一门精准医学.

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