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TRIM71突变会导致神经发育综合征,包括腹腔大和水脑

Phan Q Duy^1,2,3, Bettina Jux⁴, Shujuan Zhao^5,6

¹Department of Neurosurgery, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.

Brain : a journal of neurology

|June 4, 2024

概括

TRIM71基因的突变导致一种新的神经发育障碍,TRIM71相关发育障碍 (TADD),导致儿童的先天性水头等脑部异常.

科学领域:

神经科学是一个神经科学.
遗传学遗传学是一个
发展生物学发展生物学

背景情况:

先天性水头是一种常见的疾病,需要小儿大脑手术.
基因TRIM71 (系系变异 41) 已被认为是先天性水头的危险因素,但其作用需要进一步调查.

研究的目的:

系统地检查TRIM71变体的大型队列中脑室内巨血病患者.
调查TRIM71突变与先天性水脑病和相关神经发育现象之间的联系.
确定TRIM71作为一种新型神经发育综合征的致病基因.

主要方法:

对2697个父试验组三组和8091个脑室内巨血病患者的总体外进行了截面分析.
在TRIM71.1.中对改变蛋白质的新变体 (DNV) 的识别和表征.
功能性研究包括对TRIM71与CDKN1A结合和亚细胞局部化的评估.
人类胚胎大脑发育的单细胞转录组分析.

主要成果:

鉴定了TRIM71的13种新型变体,这些变体发生在患有心室巨,先天性水头,发育迟缓和大脑结构缺陷的无关儿童中.
在NHL域中发现了影响TRIM71功能的特定的阿基尼因变异.
对于某些TRIM71变种,已表明与CDKN1A的结合受损,并改变了亚细胞局部.
在第一季度早期的人类神经干细胞中揭示了TRIM71表达.

结论:

TRIM71对于人类大脑形态发生是必不可少的.
TRIM71中的突变会导致一种新的神经发育综合征,称为TRIM71相关发育障碍 (TADD).
这种TADD的特征是变异性腹腔巨,先天性水头和其他结构性大脑缺陷.

关键词:

在新的变种 de novo 变种.在 TRIM71 中,大脑发育大脑的发育大脑的发展头是水头的一种疾病.神经干细胞的神经干细胞结构性大脑障碍结构性大脑障碍

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