Case report: A de novo variant of CRMP1 in an individual with a neurodevelopmental disorder
2024
A New Genetic Variant Linked to Neurodevelopmental Disorders
Sample size: 1
publication
Evidence: low
Author Information
Author(s): Liu Juan, Wang Qi, Chen Jia
Primary Institution: Mianyang Central Hospital
Hypothesis
Is there a genetic variant in the CRMP1 gene associated with neurodevelopmental disorders?
Conclusion
The study suggests a potential link between a specific CRMP1 gene variant and neurodevelopmental disorders.
Supporting Evidence
- The identified CRMP1 variant was confirmed as a de novo mutation.
- The patient exhibited symptoms consistent with neurodevelopmental disorders.
- The study adds to the limited reports linking CRMP1 to neurodevelopmental disorders.
Takeaway
A boy with a learning disability and autism was found to have a new genetic change that might be related to his condition.
Methodology
Whole-exome sequencing was performed on the patient and his parents to identify genetic variants.
Limitations
The study is based on a single case, limiting the generalizability of the findings.
Participant Demographics
The participant is a 9-year-old boy with a neurodevelopmental disorder.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website