Case report: A de novo variant of CRMP1 in an individual with a neurodevelopmental disorder
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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Juan Liu1,2, Qi Wang1, Jia Chen1
1Department of Pediatrics, Mianyang Central Hospital, Mianyang, Sichuan, China.
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).
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