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在FSD1L中的双基变异会导致神经发育障碍,与L1综合征重叠

Valentina Serpieri¹, Myriam Vezain-Mouchard², Alessia Orsi¹

¹Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.

American journal of human genetics

|February 20, 2026

概括

纤维素第III类和SPRY域含有1-like (FSD1L) 的遗传变异会导致严重的脑形和神经发育障碍. FSD1L对神经元发育,纤维生成和线粒状功能至关重要.

科学领域:

遗传学是一个遗传学.
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:

遗传突变会破坏中枢神经系统的发育,导致大脑形和神经发育障碍.
在人类发育中,纤维素第III类和SPRY域含有1-like (FSD1L) 蛋白的功能以前是未知的.

研究的目的:

研究严重脑形和神经发育障碍的个体中FSD1L变异的遗传原因和功能后果.
阐明FSD1L在中枢神经系统发育中的作用.

主要方法:

对受影响的个人和家庭进行遗传分析.
在小鼠胚胎中Fsd1l敲除.
人类胎儿组织中的免疫组织化学.
诱导多能干细胞 (iPSC) 衍生的神经前体细胞分化试验.
在患者衍生的纤维细胞中分析线粒状和初级毛.

主要成果:

在FSD1L的双基致病变体被确定在11个个人的脑形和神经发育现象的频谱,类似于L1综合征.
在小鼠中Fsd1l敲除了重复的胎儿心室扩张.
FSD1L局部化到发育中的神经元,线性,和初级毛.
来自患者的神经前体细胞显示分化受损和细胞死亡增加.
患者的纤维细胞表现出异常的线粒状,降低了纤维生成和缩短的纤维状.

结论:

FSD1L对于正常的中枢神经系统发育至关重要,包括神经元分化,轴突指导和结.
致病性FSD1L变异导致严重的神经发育障碍,原因是微管组织,细胞分裂和纤维生殖的缺陷.
FSD1L被确定为一种新型的微管相关蛋白质,对神经元发育至关重要.

关键词:

在FSD1中,FSD1是指FSD1.在FSD1L中.这就是L1综合征.一个L1CAM.状轴心导航导航的指导轴遗传性脑水症是先天性的.身体的质体 (callosum) 是一个体.微管是微管的组成部分.发生线粒分裂 (mitosis).主要的纤毛是主要的纤毛.

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