一个患有脑积水的胎儿中反复出现的同义 L1CAM 变异。

IF 1 Q4 GENETICS & HEREDITY Human Genome Variation Pub Date : 2024-01-23 DOI:10.1038/s41439-024-00263-2

Ivan Šubrt, Tomáš Zavoral, Lukáš Strych, Monika Černá, Markéta Hejnalová, Pavla Komrsková, Jitka Tejcová

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摘要

我们报告了一例脑积水胎儿，其临床外显子组测序发现 L1CAM 基因中存在一个意义不明的复发性同义变异 c.453G>T。本报告是第二例存在该变异的 X 连锁脑积水胎儿。由于我们重现了 RNA 分析，因此我们能够将该变异重新归类为可能致病的变异。我们的研究结果强调了在优先排序过程中不排除同义变异的重要性。

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A recurrent synonymous L1CAM variant in a fetus with hydrocephalus.

We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance, c.453G>T, in the L1CAM gene. This report presents the second case of X-linked hydrocephalus in a fetus with this variant. Since we reproduced the RNA analysis, we were able to reclassify this variant as likely pathogenic. Our results stress the importance of not excluding synonymous variants during prioritization.

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