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一个患有发育障碍和的儿童的NBEA基因变异:一个病例报告

Xiaoli Huang¹, Wen-Lin Wu^1,2, Jingjing Song¹

¹Department of Neurology, Liuzhou Hospital, Guangzhou Women and Children's Medical Center, Liuzhou, China.

Frontiers in neuroscience

|October 20, 2025

概括

神经 (NBEA) 基因变异导致神经发育障碍和. 在患有发育迟缓和发烧敏感发作的儿童中发现了一种新的致病性NBEA变体c.4715C>A,扩大了已知的NBEA突变谱.

科学领域:

遗传学和分子生物学
神经科学是一个神经科学.
发展生物学发展生物学

背景情况:

NBEA基因编码Neurobeachin,这是一个脑特异性蛋白质,对囊泡贩运和突触功能至关重要.
致病性NBEA变体与神经发育障碍有关,包括智力障碍,自闭症谱系障碍和.
大多数引起疾病的NBEA变异是de novo功能丧失突变,通常呈现出早期发作的普遍性发作.

研究的目的:

在NBEA基因中报告一种新的致病变体.
描述与这种变体相关的临床表型.
完善对NBEA相关疾病中的基因型-表型谱的理解.

主要方法:

一个中国儿童的临床病例描述,患有全球发育迟缓和经常性发作.
神经成像 (MRI) 和电生理学 (EEG) 评估.
基因分析,包括整个外基因组测序,以确定致病变体.
使用美国医学遗传学和基因组学指南学院的变异分类.

主要成果:

这项研究在NBEA基因中发现了一个新的无意义变异,c.4715C > A [p.(Ser1572Ter) ],在NBEA基因中.
这种变种根据ACMG指南被归类为致病性.
患者呈现全球发育迟缓,发烧性敏感性复发性发作和EEG上的形异常,没有结构性大脑异常.

结论:

鉴定到的NBEA变体c.4715C > A [p.(Ser1572Ter]是致病的,与神经发育障碍和有关.
在这种情况下观察到的表型,包括发烧敏感性,扩大了NBEA相关疾病的范围.
虽然这种变异可能是致病的,但不能排除其他遗传或表观遗传因素的潜在影响.

关键词:

这是NBEA基因.是一种.发烧敏感性发烧敏感性神经发育障碍是一种神经发育障碍.整体外因子测序的测序

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