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CASE REPORT article

Front. Neurosci.
Sec. Neurodevelopment
Volume 18 - 2024 | doi: 10.3389/fnins.2024.1490731

A de novo variant in CRMP1 in an individual who has a neurodevelopmental disorder

Provisionally accepted
Juan Liu Juan Liu Qi Wang Qi Wang *Jia Chen Jia Chen *
  • Mianyang Central Hospital, Mianyang, China

The final, formatted version of the article will be published soon.

    Background:CRMP1 is a key protein in brain development.Methods:We performed genetic testing by whole-exome sequencing in an individual who has a neurodevelopmental disorder.Results:We identified a de novo heterozygous CRMP1 NM_001014809.3:c.1755del (p.Lys586fs) variant in the affected individual.We have submitted this mutation to ClinVar (SCV005196589). Conclusion:Currently, the CRMP1 gene has no clear disease phenotype association in the OMIM database. Our report may provide evidence for an association between the CRMP1 gene and neurodevelopmental disorders.

    Keywords: CRMP1, neurodevelopmental disorder, Whole-exome sequencing, Autism Spectrum Disorder, Children

    Received: 03 Sep 2024; Accepted: 25 Nov 2024.

    Copyright: © 2024 Liu, Wang and Chen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Qi Wang, Mianyang Central Hospital, Mianyang, China
    Jia Chen, Mianyang Central Hospital, Mianyang, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.