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在225名患有发育迟缓和/或智力残疾的中国儿童的基因和表型分析中,使用了全外体测序

Heqian Ma¹, Lina Zhu^2,3,4, Xiao Yang^2,3,4

¹The School of Public Health, Guilin Medical University, 1 Zhiyuan Road, Lingui District, 541199, Guilin, PR China.

|April 22, 2024

概括

使用全外因组测序的基因测试在42.67%的中国儿童中发现了发育迟缓或智力残疾的致病变体. 特定的临床特征,如听力损失,显著改善了诊断产量.

科学领域:

遗传学遗传学是一个
儿科儿科儿科
神经发育障碍神经发育障碍

背景情况:

发育迟缓 (DD) 和智力障碍 (ID) 是普遍存在的早期发病障碍,影响全球1%至2%的儿童.
识别DD/ID的多样性遗传原因对于理解病变发生和改善临床管理至关重要.
整体外体序列测序 (WES) 是儿童群体遗传诊断的强大工具.

研究的目的:

为了研究中国儿童DD/ID的WES的诊断产量.
为了确定增强WES诊断实用性的特定临床特征.
扩大与DD/ID相关的已知遗传变异的范围.

主要方法:

在225名被诊断患有DD/ID的中国儿童身上进行了整体外体测序 (WES).
患者被分为七个表型子组进行回顾性分析.
进行了统计分析,以评估临床特征与致病性遗传变异之间的关联.

主要成果:

导致单核酸变体 (SNVs) 和小插入/删除 (Indels) 在研究儿童中被确定为96/225 (42.67%).
诊断产量因表型子组而异,从31.25%到71.43%不等.
听力损失,视力损失和面部形与WES诊断产量增加显著相关 (P <0.05).
听力损失 (OR=1.86) 和异常的大脑干听力唤起潜力 (BAEP) (OR=1.91) 独立地与致病性遗传变异有关.

结论:

WES是一种有价值的诊断工具,用于识别中国儿童DD/ID的遗传原因.
听力损失和视力损失等临床特征是基因测试的重要指标.
该研究强调了在DD/ID儿童中BAEP查对于早期诊断和管理的重要性.
这些发现有助于理解DD/ID的遗传变异,并为临床决策和生殖规划提供信息.

关键词:

大脑干听觉唤起了潜在的潜在潜力.孩子孩子孩子孩子发展延迟发展延迟听力损失听力损失听力损失智力障碍智力障碍是一种智力障碍.现象型现象型是一种表现型.整体外基因组测序的测序

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