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在280名患有不明原因发育迟缓或智力残疾的儿童中,使用整体外基因组测序进行了基因分析

Jinbo Xu¹, Wei Su¹, Yishan Wang¹

¹Department of rehabilitation, Anhui Provincial Children's Hospital, No.39, Wangjiang Road, Baohe District, Hefei, 230051, China.

|November 26, 2024

概括

整体外基因组测序 (WES) 有效地识别发育迟缓 (DD) 和智力障碍 (ID) 的遗传原因. 这种神经发育障碍分析产生了显著的结果,有助于诊断和患者护理.

科学领域:

遗传学是一个遗传学.
神经科学是一个神经科学.
医学诊断医学诊断医学诊断

背景情况:

发育迟缓 (DD) 和智力障碍 (ID) 是神经发育障碍 (NDD) 的主要特征.
在NDD的遗传和临床异质性为准确的遗传诊断带来了挑战.
整体外基因组测序 (WES) 是一种强大的工具,用于识别无法解释的DD/ID病例中的遗传病因.

研究的目的:

评估整个外体序列测序 (WES) 的诊断产量,在一组患有不明原因发育迟缓 (DD) 和智力障碍 (ID) 的患者中.
评估各种临床因素对WES基因诊断成功率的影响.

主要方法:

追溯分析了280名被诊断为不明原因DD/ID的患者的WES数据.
评估人口统计信息,识别的遗传变异和临床因素.
临床参数与WES诊断结果之间的相关性的统计评估.

主要成果:

在36.07%的病例中发现了致病变体,包括染色体拷贝数变异.
临床因素包括年龄,出生参数,神经症状和MRI/EEG发现并没有显著影响WES结果.
在剖腹产分娩和WES更高的诊断产量之间发现了显著的相关性.

结论:

整体外基因组测序 (WES) 是一种高效的方法,用于诊断无法解释的DD/ID的遗传原因.
WES的发现显著有利于患者管理,为家庭提供遗传咨询和预后评估.
传递方式可能是影响NDD中遗传原因检测的因素.

关键词:

发育迟缓的发展延迟遗传诊断是一种基因诊断.智力障碍智力障碍是一种智力障碍.神经发育障碍神经发育障碍整个外基因组的测序.

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