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中国患者的TBK1变异与肌缩性侧面硬化症:遗传分析和临床特征

Bi Zhao¹, Qirui Jiang¹, Junyu Lin¹

¹Department of Neurology, Laboratory of Neurodegenerative Disorders, West China Hospital, Sichuan University, Chengdu, China.

European journal of neurology

|July 9, 2023

概括

在中国ALS患者中对TANK结合激酶1 (TBK1) 的基因分析发现了新的功能丧失变异. 与TBK1变异相关的临床特征是多样化的,扩大了已知的异构性侧面硬化症的基因型谱.

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:

坦克结合激酶1 (TBK1) 功能丧失 (LoF) 变体的哈普洛因不足与肌缩性侧面硬化症 (ALS) 和前性痴呆症 (FTD) 有关.
亚洲ALS患者的TBK1和相关临床表现的遗传景观仍未得到充分探索.

研究的目的:

为了研究中国ALS队列中的TBK1变异的遗传谱.
为了描述患有TBK1变异的ALS患者的临床特征.

主要方法:

2011年中国ALS患者的遗传分析.
使用软件对TBK1误解变体的有害性预测.
在ALS/FTD中对TBK1变异的文献综述使用PubMed,Embase和Web of Science.

主要成果:

在33名患者中发现了26种TBK1变异,包括6种新的LoF变异 (0.3%) 和20种罕见的误解变异 (12种预测有害,0.6%).
影响激酶域的TBK1LoF变异与影响卷状卷域的变异相比,与较早的发病年龄相关.
在有TBK1LoF变异的高加索ALS患者中观察到前性痴呆症,但在研究的中国队列中没有.

结论:

这项研究扩大了ALS患者TBK1变异的基因型谱.
患有TBK1变异的个体的临床表现是多样化的.

关键词:

这种TBK1变异是TBK1变异.骨髓缩侧面硬化症 (ALS) 是一种临床特征临床特征临床特征基因型基因型基因型

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