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在130名患有自闭症谱系障碍的儿童队列中的数组比较基因组杂交分析:单一中心意大利研究

M Martucci¹, M Novelli¹, V Scarselli¹

¹Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.

La Clinica terapeutica

|December 4, 2023

概括

130名患有自闭症谱系障碍 (ASD) 的儿童的染色体微阵列分析 (CMA) 在61名儿童中确定了副本数变异 (CNV),突出了与ASD相关的新基因.

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
基因组医学是基因组医学.

背景情况:

自闭症谱系障碍 (ASD) 是一种复杂的神经发育状况,具有强烈的遗传成分.
染色体微阵列分析 (CMA) 是确定ASD拷贝数变异 (CNV) 的关键诊断工具.
在ASD中许多已识别的CNV的临床意义仍然不清楚.

研究的目的:

调查数组比较基因组杂交 (数组-CGH) 在识别ASD儿童的遗传变异中的实用性.
在一组自闭症患者中,将鉴定的基因组重组与临床表型相关联.
为了确定与ASD易感性相关的新基因.

主要方法:

进行了对比基因组杂交 (array-CGH) 在被诊断为ASD的130名儿童的DNA上.
分析了遗传发现,包括副本数变异 (CNVs).
临床数据,包括认知能力,语言发展和脑电图异常,在各组之间进行了比较.

主要成果:

在130名患有自闭症儿童中的61名儿童中检测到副本数变异 (CNV).
44名儿童携带未知意义的变异 (u-CNVs),17名携带敏感性-CNVs (c-CNVs).
在CNV阳性和CNV阴性组之间没有观察到认知能力,语言,EEG异常或ASD症状严重性的显著差异. 突出显示了GPHN,IMMP2L和ZMYND11作为潜在的ASD易感基因.

结论:

阵列-CGH对于患有自闭症儿童来说是一种有价值的诊断方法,可以揭示新的CNVs.
新兴的基因和CNV越来越多地与ASD的各种临床表现有关.
需要进一步的研究来阐明在ASD中确定的遗传变异的功能影响.

关键词:

阵列-CGHGH 在线播放自闭症自闭症自闭症副本编号变体 (CNVs) 是一个变体.

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