一种新的 L1CAM 移码突变导致 X 连锁性脑积水。
A new frameshift mutation in L1CAM producing X-linked hydrocephalus.
机构信息
Department of Prenatal Diagnosis, Sichuan Provincial Hospital for Women and Children, Chengdu, China.
Department of image, Sichuan Provincial Hospital for Women and Children, Chengdu, China.
出版信息
Mol Genet Genomic Med. 2020 Jan;8(1):e1031. doi: 10.1002/mgg3.1031. Epub 2019 Nov 22.
BACKGROUND
X-linked hydrocephalus (XLH), characterized by mental retardation and bilateral adducted thumbs, often come out to be a genetic disorder of L1CAM. It codes the protein L1 cell adhesion molecule (L1CAM), playing a crucial role in the development of the nervous system. The objective of the study was to report a new disease-causing mutation site of L1CAM, and gain further insight into the pathophysiology of hydrocephalus.
METHODS
We collect the samples of a couple and their second hydrocephalic fetus. Then, the whole-exome sequencing and in-depth mutation analysis were performed.
RESULTS
The variant c.2491delG (p.V831fs), located in the exon 19 of L1CAM (chrX:153131214), could damage the L1CAM function by producing a frameshift in the translation of fibronectin type-III of L1CAM.
CONCLUSION
We identified a novel disease-causing mutation in L1CAM for the first time, which further confirmed L1CAM as a gene underlying XLH cases.
背景
X 连锁脑积水（XLH）的特征为智力迟钝和双侧内收拇指，通常是 L1CAM 的遗传疾病。它编码 L1 细胞黏附分子（L1CAM），在神经系统发育中起着关键作用。本研究的目的是报告 L1CAM 的一个新致病突变位点，并进一步了解脑积水的病理生理学。
方法
我们收集了一对夫妇及其第二个脑积水胎儿的样本。然后进行全外显子组测序和深入的突变分析。
结果
位于 L1CAM 外显子 19 中的 c.2491delG（p.V831fs）变异（chrX:153131214）可通过 L1CAM 纤连蛋白 III 翻译产生移码而破坏 L1CAM 功能。
结论
我们首次在 L1CAM 中鉴定出一种新的致病突变，进一步证实 L1CAM 是 XLH 病例的一个基因。
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