Work

Case report: A de novo variant of CRMP1 in an individual with a neurodevelopmental disorder

Year: 2024

Type: article

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 de novo heterozygous CRMP1 NM_001014809.3:c.1755del (p.Lys586fs) variant in the affected individual. This mutation was submitted to ClinVar (SCV005196589). Conclusion Currently, the CRMP1 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 CRMP1 gene and neurodevelopmental disorders (NDDs).

Source: Frontiers in Neuroscience

DOI: 10.3389/fnins.2024.1490731

Authors: Juan Liu, Qi Wang, Jia Chen

Institutions: Chengdu Medical College, Mianyang Central Hospital

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,295