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一种新型的SMARCC1 BAF病变涉及神经前体表观遗传失调在人类水头

Amrita K Singh^1,2, Garrett Allington^1,2,3, Stephen Viviano⁴

¹Department of Neurosurgery, Yale University, New Haven, CT 06510, USA.

Brain : a journal of neurology

|December 21, 2023

概括

在SMARCC1的遗传变异导致一种新的综合征,SMARCC1相关的发育失调综合征,以水头和发育迟缓为特征. 这一发现突出了SMARCC1的重点.

科学领域:

遗传学是一个遗传学.
发展生物学发展生物学
神经科学是一个神经科学.

背景情况:

水脑是最常见的小儿脑外科手术指示.
作为BRG1关联因子 (BAF) 染色体重塑复合物的组成部分,SMARCC1是先天性水脑病的候选基因.
在大型队列中对SMARCC1变异的系统检查和体内功能验证缺乏.

研究的目的:

为了评估SMARCC1变体在患有先天性水头症的大型患者队列中的流行率.
描述与SMARCC1变异相关的临床和放射性表现型.
在新型 Xenopus tropicalis 模型中功能验证 Smarcc1 枯竭的影响.

主要方法:

2697个腹腔三组和1798个控制外体的整体外体序列测序.
鉴定变异的遗传关联分析,丰富和蛋白质结构影响评估.
人类胎儿大脑和Xenopus knockdowns的RNA测序使用光学连贯断层扫描,现场杂交和免疫光学.

主要成果:

在保留的功能域中发现了六种罕见的新型SMARCC1变异.
患者呈现出水脑,水道狭窄,体异常,发育迟缓和心脏缺陷.
在Xenopus knockdown中,重现了关键的表型,并被野生类型的SMARCC1.1所拯救.

结论:

新的SMARCC1变种导致一种新的BAF病变,即"SMARCC1相关的发育失调综合征".
这种综合征的特征是腹腔巨,水道狭窄,发育迟缓和结构缺陷.
SMARCC1对人类大脑形态发生至关重要,其变体为先天性水脑病原体提供了洞察力.

关键词:

在这种情况下,染色染色素这是先天的,先天的.遗传学遗传学遗传学是一个基因组学就是基因组学.神经发育的神经发育神经外科神经外科手术

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