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一个反复的同名L1CAM变体在一个胎儿的水脑

Ivan Šubrt¹, Tomáš Zavoral², Lukáš Strych²

¹Department of Medical Genetics, Faculty of Medicine in Pilsen, Charles University and University Hospital Pilsen, Pilsen, Czech Republic. subrti@fnplzen.cz.

Human genome variation

|January 23, 2024

概括

在L1CAM基因中的同名变异可以导致X链接的水头. RNA分析将以前未知的变种重新归类为可能的病原体,强调在遗传测试中考虑同名变种的重要性.

科学领域:

遗传学是一个遗传学.
发育生物学发展生物学
神经学神经学

背景情况:

链接到X的头 (XLH) 是一种严重的先天性脑形.
L1CAM基因中的遗传变异是已知的XLH的原因之一.
同义变异在遗传诊断中经常被忽视.

研究的目的:

为了调查在水脑胎儿中发现的L1CAM基因中未知意义的同名变异 (VUS).
为了确定L1CAM.中的c.453G>T变异的致病性.
强调同名变异的临床相关性.

主要方法:

临床外体序列测序是在一个水脑胎儿上进行的.
复制了RNA分析,以评估变体的影响.
根据功能证据,变异性致病性被重新分类.

主要成果:

在L1CAM基因中发现了一种复发的同名变体c.453G>T.
这是与这种特定变异相关的第二个报告的XLH病例.
可复制RNA分析支持将变种重新归类为可能致病的.

结论:

同义变异不应被排除在基因分析期间的变异优先级.
像RNA分析这样的功能研究对于重新分类VUS至关重要,包括同义变体.
准确的变体解释对于诊断像X链接头症这样的疾病至关重要.

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