病例报告：一名患有神经发育障碍个体中CRMP1的一种变体。
Case report: A variant of CRMP1 in an individual with a neurodevelopmental disorder.
作者信息
Liu Juan, Wang Qi, Chen Jia
机构信息
Department of Pediatrics, Mianyang Central Hospital, Mianyang, Sichuan, China.
Chengdu Medical College, Chengdu, Sichuan, China.
出版信息
Front Neurosci. 2024 Dec 20;18:1490731. doi: 10.3389/fnins.2024.1490731. eCollection 2024.
BACKGROUND
CRMP1 is a key protein involved in brain development.
METHODS
We performed genetic testing through whole-exome sequencing (WES) in an individual with a neurodevelopmental disorder.
RESULTS
We identified a heterozygous NM_001014809.3:c.1755del (p.Lys586fs) variant in the affected individual. This mutation was submitted to ClinVar (SCV005196589).
CONCLUSION
Currently, the gene has no clear disease phenotype association in the Online Mendelian Inheritance in Man (OMIM) database. Our report may provide evidence for an association between the gene and neurodevelopmental disorders (NDDs).
背景
CRMP1是一种参与大脑发育的关键蛋白。
方法
我们对一名患有神经发育障碍的个体进行了全外显子组测序（WES）基因检测。
结果
我们在受影响个体中鉴定出一个杂合的NM_001014809.3:c.1755del（p.Lys586fs）变异。该突变已提交至ClinVar（SCV005196589）。
结论
目前，该基因在《人类孟德尔遗传在线》（OMIM）数据库中尚无明确的疾病表型关联。我们的报告可能为该基因与神经发育障碍（NDDs）之间的关联提供证据。
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