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在马来西亚患者中发现的肌缩侧面硬化基因的新型和罕见变异

Nurul Angelyn Zulhairy-Liong¹, Suzanna Edgar^1,2, Melina Ellis^3,4

¹Department of Medicine, Faculty of Medicine, Universiti Malaya, Kuala Lumpur, Malaysia.

Amyotrophic lateral sclerosis & frontotemporal degeneration

|December 8, 2025

概括

这项研究调查了马来西亚人肌缩侧面硬化症 (ALS) 的遗传原因,确定了关键基因突变并增加了诊断产量. 下一代测序揭示了新型变异,改善了我们对东南亚ALS遗传学的理解.

科学领域:

遗传学遗传学是一个
神经学神经学
分子生物学分子生物学

背景情况:

有限的数据存在于东南亚人口的肌缩性侧面硬化症 (ALS) 遗传结构.
了解遗传因素对于诊断和治疗ALS至关重要.

研究的目的:

在一个多民族的马来西亚队列中调查ALS的遗传基础.
在ALS相关基因中识别致病变体和不确定的意义变体 (VUS).
评估下一代测序 (NGS) 在这一群体中的诊断产量.

主要方法:

在 *SOD1*, *FUS*, *TARDBP*, *ATXN2* 和 *C9orf72* 基因中检查重复扩张.
全基因组测序 (WGS) 和全外基因组测序 (WES) 对一个由61个ALS相关基因组成的小组.
在112个子集病例中分析了致病变体,可能致病变体和VUS.

主要成果:

观察到的突变频率包括: *SOD1* (3.0%), *C9orf72* (2.2%), *ATXN2* (2.0%), *FUS* (1.5%) 和 *TARDBP* (1.5%).
在 *FIG4*, *FUS*, *TARDBP*, *NEK1*, *GRN*, *CYP27A1* 和 *SPAST* 中发现的致病性/可能致病性变体.
NGS的诊断产量增加到47.7%,其中42.9%的病例至少有一次VUS.

结论:

在马来西亚和东南亚的民族中,NGS对于阐明ALS的遗传基础是有价值的.
发现了新的变异,有助于了解ALS遗传学.
该研究提高了在代表性不足的人群中ALS的诊断产量.

关键词:

肌缩性侧面硬化症 (AMLS) 是一种疾病.马来西亚马来西亚马来西亚基因查基因查基因查整体外基因组测序的测序整个基因组的测序.

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