Case Report: A Variant of CRMP1 in an Individual with a Neurodevelopmental Disorder

Overview

Journal Front Neurosci

Date 2025 Jan 6

PMID 39758889

Authors

Juan Liu

Qi Wang

Jia Chen

Affiliations

Soon will be listed here.

Abstract

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).

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