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自闭症谱系障碍中的遗传痕迹:来自土耳其的一项全外测序研究

Gülsüm Kayhan¹, Ahmet Ozaslan², Elvan Işeri²

¹Department of Medical Genetics, Gazi University Hospital, Gazi University, 06560 Ankara, Türkiye.

|February 27, 2026

概括

整体外基因组测序 (WES) 在24%的土耳其自闭症谱系障碍 (ASD) 患者中发现了致病变体. 这项研究强调了WES在诊断ASD和在不同人群中发现新型遗传变异方面的重要性.

科学领域:

遗传学是一个遗传学.
神经发育障碍神经发育障碍
分子诊断学分子诊断学

背景情况:

自闭症谱系障碍 (ASD) 是一种复杂的神经发育状况,其特点是社会互动缺陷.
由于症状的变异性,对ASD的临床诊断可能具有挑战性.
分子遗传测试,包括全外基因组测序 (WES),对于准确的ASD诊断至关重要.

研究的目的:

在被诊断为ASD的土耳其患者中使用WES识别与疾病相关的遗传变异.
为ASD遗传研究提供特定人群变异数据.
评估WES在一组ASD患者中对脆弱X综合征负面的有用性.

主要方法:

在75名被诊断为ASD的儿科患者 (DSM-5标准) 上进行了全外体序列测试 (WES).
患者在脆弱X检测,细胞遗传分析和分子型定型中获得正常结果.
变异分析的重点是识别致病性,可能致病性和未知意义的变异 (VUS).

主要成果:

在24%的ASD患者中,发现了致病或可能致病 (LP) 变体.
在45.3%的病例中发现了未知意义的变异 (VUS).
最常涉及的基因是MECP2,EP300和PTEN;在KMT2C,MECP2,PTEN和TRRAP中发现了四种新的新变异.

结论:

WES是自闭症遗传诊断的宝贵工具,有助于病因确认和个性化治疗策略.
在不同的人群中识别基因和变异谱,比如研究的土耳其队列,对于推进自闭症研究至关重要.
新型变异的发现强调了对ASD进行综合基因测试的持续重要性.

关键词:

自闭症谱系障碍自闭症谱系障碍分子诊断分子诊断分子诊断整体外基因组测序的测序

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