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对于神经发育障碍儿童的trio-exome测序的诊断实用性

Xiaoping Lan^1,2,3, Xiaojun Tang^1,2,3, Wenhao Weng^1,2,3

¹Department of Clinical Laboratory, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

JAMA network open

|March 25, 2025

概括

在患有神经发育障碍 (NDD) 的儿童中,同时使用三外体测序 (trio-ES) 分析副本数变异 (CNVs) 和单核酸变异 (SNVs),实现了46.1%的诊断收益率. 这种方法有效地识别小CNV和衰退性遗传疾病.

科学领域:

遗传学是一个遗传学.
儿科儿科儿科
分子生物学分子生物学

背景情况:

神经发育障碍 (NDD) 通常是由基因变异引起的,例如复制数变异 (CNV) 和单核酸变异 (SNV).
传统的方法,如染色体微阵列和外基因组测序 (ES),分别分析这些变异.

研究的目的:

评估ES的诊断产量和临床实用性,用于同时检测NV和SNV在患有NDD和其父母 (trios) 的儿科患者中的CNV和SNV.

主要方法:

在上海儿童医院对1106名疑似NDD的儿科患者进行了回顾性队列研究.
在患者及其生物父母身上进行了三外体序列测定 (trio-ES),以确定遗传变异.
收集和分析了临床和实验室数据.

主要成果:

三重ES的整体诊断收益率为46.1% (510个诊断).
这包括13.5%的CNV和32.1%的SNV,共诊断率为0.2%.
特里奥-ES成功检测到16个CNV小于20千基.

结论:

使用trio-ES同时分析SNV和CNV,为患有NDD的儿童提供了高基因诊断产量.
特别重要的是,Trio-ES对于识别小CNV和衰退性遗传疾病非常有价值.
这些发现支持trio-ES在诊断NDD方面的临床实用性.

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