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对中国患者37例初级周期性病例的遗传分析

Xuechao Zhao¹, Haofeng Ning², Lina Liu¹

¹The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, 450052, Zhengzhou, Henan, China.

Orphanet journal of rare diseases

|April 12, 2024

概括

基因测试确定了SCN4A和CACNA1S基因变异在中国患者的初级周期性 (PPP). 这项研究扩展了已知的PPP遗传原因,特别是在中国人口中.

科学领域:

遗传学遗传学是一个
神经学神经学
离子通道病变离子通道病变

背景情况:

初级周期性 (PPP) 是一种遗传性离子通道疾病,导致经常性肌肉衰弱.
PPP呈现出临床异质性,并根据在发作期间的水平进行分类 (低血,正常血,高血).
在中国人群中对PPP存在有限的遗传研究.

研究的目的:

在中国队列中调查一次性周期性的遗传基础.
识别致病基因变异并扩大PPP的已知突变谱.

主要方法:

37名患有初级周期性的患者的临床诊断.
使用特定基因组或全外基因组测序 (WES) 的基因测试.
迷你基因拼接试验以确认SCN4A.中的新拼接变体.

主要成果:

在59.5% (22/37) 的患者中发现了基因变异,主要是SCN4A或CACNA1S基因.
在15名低血压PPP (HypoPP-2) 患者中发现了SCN4A变异,在6名HypoPP-1患者中发现了CACNA1S变异.
在SCN4A中发现并证实了一种新的拼接变种 (c.2020-5G>A).

结论:

在这个中国队列中,SCN4A变异是PPP的主要遗传原因,其次是CACNA1S变异.
这项研究确定了3种新的SCN4A和2种新的CACNA1S变异.
这些发现扩大了与初级周期性相关的已知遗传突变的范围.

关键词:

这两个基因是CACNA1S和SCN4A.低血压的周期性.一个微型的基因面板和WES的使用情况.主要的周期性.

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