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基于下一代测序的副本数变异分析,对中国患者进行了初级动力障碍的分析,揭示了小说DNAH5副本数变异

Weicheng Chen¹, Zhuoyao Guo², Mengru Li¹

¹Cardiovascular Center, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102 China.

Phenomics (Cham, Switzerland)

|April 12, 2024

概括

在DNAH5中拷贝数变异 (CNV) 是中国初级纤维肌动力障碍 (PCD) 的新发现的遗传原因. 这项研究强调了 CNV 分析对于诊断 PCD 的重要性,特别是在全外体序列测序结果为负的患者中.

科学领域:

遗传学遗传学是一个
罕见疾病罕见疾病
呼吸系统医学呼吸系统医学

背景情况:

初级状动力障碍 (PCD) 是一种罕见的遗传疾病,具有显著的遗传异质性.
副本数变异 (CNVs) 在PCD的遗传病原体中未被充分认识到,特别是在中国人群中.

研究的目的:

调查拷贝数变异 (CNVs) 在原发性纤毛功能障碍 (PCD) 的遗传原因中的作用.
在中国患者中扩大与DNAH5相关的PCD已知的遗传谱.

主要方法:

采用下一代测序 (NGS) 与针对PCD患者的向CNV分析,具有负的全外体测序 (WES) 结果.
使用定量实时聚合酶连锁反应 (qPCR) 和桑格测序来确认CNV.
进行了高速视频显微镜分析 (HSVA),传输电子显微镜 (TEM) 和免疫光学 (IF) 来表征状表型.

主要成果:

在两种PCD家族中鉴定了三种新的DNAH5相关的CNV (删除).
在受影响患者的呼吸道毛囊中确认了DNAH5蛋白质缺乏.
观察到的特征性PCD表型包括 situs inversus totalis,呼吸困难,鼻炎和纤毛缺陷 (简称ODA,不动纤毛).

结论:

DNAH5 中的 CNV 是中国原发性纤维动力障碍 (PCD) 的重要原因,以前被低估.
基于NGS的CNV分析对于诊断PCD至关重要,特别是当常规WES无法确定时.
这项研究扩大了PCD和DNAH5相关疾病的遗传理解.

关键词:

副本数量变化的变化 DNAH5基因是DNAH5的基因之一.现象型异质性的异质性主要的状动力障碍症.

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