在患有自闭症谱系障碍的儿童中进行基因检测的收益 - - 一个单一中心的经验
Kriti Arora1, Minakshi Balwani2, Akash Wakchaure3
1Department of Pediatrics, Mahatma Gandhi Mission's Medical College and Hospital, Kamothe, Navi Mumbai, Maharashtra, India.
Annals of Indian Academy of Neurology
|March 21, 2025
概括
整体外基因组测序 (WES) 在识别自闭症谱系障碍 (ASD) 的遗传原因方面显示出较高的诊断收益率,而不是染色体微阵列 (CMA). 在24.07%的ASD儿童中发现了遗传异常.
科学领域:
- 遗传学 遗传学 是一个
- 神经发育障碍 神经发育障碍
- 儿科 儿科 儿科
背景情况:
- 识别遗传原因对于管理自闭症谱系障碍 (ASD) 至关重要.
- 基因检测在了解ASD异质性方面发挥着至关重要的作用.
- 之前的研究强调了不同基因测试的不同诊断产量.
研究的目的:
- 评估和比较ASD患者基因测试的诊断产量.
- 确定整体外体测序 (WES) 与染色体微阵列 (CMA) 在识别ASD遗传病因方面的有效性.
- 确定与ASD中积极的遗传发现相关的特定临床特征.
主要方法:
- 在2018年至2023年期间在印度中部的一家教学医院进行的回顾性描述性研究.
- 分析了54名被诊断为ASD的患者的遗传测试结果.
- 对WES和CMA之间的诊断产量进行比较,包括脆弱X基因突变测试.
主要成果:
- 在54名患者中,13名患者 (24.07%) 发现了致病性/可能致病性变体.
- 整体外体测序 (WES) 与染色体微阵列 (CMA) (3.3%) (P <0.05) 相比,显示出显著更高的诊断收益率 (44.49%).
- MECP2基因是最常见的致病基因 (41.66%的阳性病例). 运动延迟和手部刻板印象的患者显示,WES阳性发现的可能性更高.
结论:
- 在很大一部分患有自闭症儿童中发现了遗传异常.
- 与CMA相比,WES在ASD中的遗传病因方面提供了更高的诊断产量.
- 针对性的基因测试和先进的测序方法对于全面的ASD管理至关重要.
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