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Updated: Jan 18, 2026

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在ARID1B基因中发现了导致Coffin-Siris综合征的新型变异

Yan Ge¹, Xin-Yi Zhang¹, Xu Han²

¹Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, 325000, China.

European journal of pediatrics

|January 16, 2026

概括

这项研究在Coffin-Siris综合征 (CSS) 患者中发现了五种新的致病性ARID1B基因变异. 这些发现扩大了已知的CSS遗传原因,CSS是一种罕见的神经发育障碍.

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
分子生物学分子生物学

背景情况:

棺材-西里斯综合征 (CSS) 是一种罕见的神经发育障碍,与BRG1和BRM相关因子 (BAF) 染色质重塑复杂基因的变异有关.
ARID1B基因变异是CSS最常见的原因,通常会导致由于切断突变导致的哈普隆不充分症.
CSS的临床特征包括发育迟缓,智力障碍和低塑性第五个数字或指甲.

研究的目的:

在被诊断为CSS的患者中识别新的致病性ARID1B变异.
调查新发现的ARID1B变异的致病作用.
扩大与CSS相关的已知ARID1B变体的频谱.

主要方法:

整体外基因组测序 (WES) 在八名临床诊断为CSS的患者中进行.
在ARID1B基因中识别和分析异构变异.
使用美国医学遗传学和基因组学学院 (ACMG) 准则对变异的分类以及使用联合注释依赖枯竭 (CADD) 评分对致病性的评估.

主要成果:

在这八名患者中,有六名患有异性ARID1B变异,其中包括一个之前报告的变异和五种新的截断变异.
这五种新型变异呈现出高的CADD得分,明显高于突变显著性切断值.
根据ACMG指南,所有五种新型ARID1B变异都被归类为致病性.

结论:

确定了五种新的致病性ARID1B变体,为已知的CSS突变格局做出了贡献.
这些发现加强了ARID1B基因变异与棺材-西里斯综合征之间的强烈关联.
这项研究扩大了对CSS遗传基础的理解,并扩大了其变体谱.

关键词:

在 ARID1B 里面,你会看到 ARID1B.棺材西里斯综合征血统分析是如何进行的?整个外基因组的测序.

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