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在L1CAM中发现了一种新型拼接部位变异的识别和功能特征,该变异导致了X链接的头

Shijie Zhou^1,2, Hao Zhang^1,2, Xue Li^1,3

¹Department of Reproductive Medicine Center, Deyang People's Hospital, Deyang, Sichuan, China.

Frontiers in genetics

|June 16, 2025

概括

一种新的L1CAM基因突变,c.1380-1G>A,被确定为导致严重的胎儿X链接头症和体发生的原因. 这一发现扩大了对L1CAM相关疾病的理解,并帮助受影响家庭的遗传咨询.

科学领域:

遗传学遗传学是一个
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:

L1CAM基因编码了一个关键的轴突糖蛋白,用于神经系统的发展.
L1CAM中的突变与X相关的神经系统疾病有关.
这项研究研究了一种影响L1CAM3'拼接部位的新型突变.

研究的目的:

在一个家庭中确定胎儿X连接头症的遗传原因.
描述L1CAM基因中的新突变及其功能影响.
提供对L1CAM相关疾病的诊断和遗传咨询的见解.

主要方法:

在胎儿样本上进行了全外体测序 (WES) 和副本数变异测序 (CNV-seq).
型分析和使用桑格测序的PCR证实了突变.
生物信息学分析 (BDGP,MaxEntScan,SpliceAI) 和体外小基因试验评估了拼接效应.

主要成果:

一种新型变异,c.1380-1G>A,在男性胎儿的L1CAM基因的3'拼接部位中被确定.
这种突变导致异常的mRNA拼接,导致水头和体部分产生.
随后的家庭怀孕显示未受影响的胎儿,由遗传检测和超声波证实.

结论:

变体c.1380-1G>A是一种新发现的致病突变,导致严重的胎儿X链脑.
这一发现扩大了L1CAM相关突变的范围.
将WES整合到产前诊断中对于无法解释的胎儿异常是有价值的,有助于遗传咨询.

关键词:

一个L1CAM.有X结合的头.迷你基因是一种微型基因.在产前诊断诊断产前诊断.拼接部位变异的拼接部位变异

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