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肌缩侧面硬化症相关遗传变异的发生率:基于临床的临床研究

Nan Hu¹, Lei Zhang¹, Dongchao Shen¹

¹Department of Neurology, Peking Union Medical College and Chinese Academy of Medical Sciences, Peking Union Medical College Hospital, Beijing, 100730, China.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

|November 11, 2023

概括

超过一半的肌缩性侧面硬化症 (ALS) 患者携带基因变异,病原性/可能病原性变异在家族性ALS中更为常见. 基因测试指标,如早期发病或认知衰退,对变种检测率没有显著影响.

科学领域:

神经科学是一个神经科学.
遗传学遗传学是一个
医学研究医学研究

背景情况:

肌缩侧面硬化症 (ALS) 是一种进展性神经退行性疾病.
识别遗传因素对于了解ALS病因和开发向治疗至关重要.
之前的研究表明,ALS病例的一个子集中存在遗传成分.

研究的目的:

为了确定临床人口中肌缩侧面硬化症 (ALS) 的遗传形式的发病率.
用下一代测序在患者中识别ALS相关的基因变异.

主要方法:

对374名确诊或可能患有ALS的患者进行了整体外基因组测序 (WES).
使用ALSoD数据库识别了与ALS相关的基因.
变种被分类为致病性/可能致病性 (P/LP) 或意义不明的变种 (VUS).

主要成果:

在54.01%的ALS患者中检测到遗传变异.
在8.29%的患者中发现了致病性/可能致病性 (P/LP) 变体.
与零星ALS (5.75%) 相比,在家族ALS (42.31%) 中,P/LP变体的检测显着更高.
不确定意义的变异 (VUS) 在零星ALS (47.13%) 中比家族ALS (23.07%) 更为普遍.
根据早期发病,快速进展,认知能力下降或小脑动症,没有观察到变异检测率的显著差异.

结论:

超过一半的研究ALS患者在ALS相关基因中存在变异,其中VUS是最常见的.
患有ALS的家族史是携带P/LP变体的强有力的指标.
临床指标,如早期发病,进展率,认知衰退或小脑动症,并不强烈地表明需要在临床实践中进行基因测试.

关键词:

肌缩性侧面硬化症 (AMLS) 是一种疾病.临床研究研究临床研究基因检测是一种基因检测.

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