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CAPRIN1 (Cell Cycle-Associated Protein 1)-Related Neurodevelopmental Disorder: A Novel Mutation With Ataxia
Rebecca A Civan1, Jessica Kottmeier2, Richard Sidlow2
1Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, ISR.
Cureus
|March 20, 2026
Summary
Mutations in the CAPRIN1 gene cause neurodevelopmental disorders, including language impairment and ADHD. A novel mutation, c.1045 C > T, p.(Q349*), was identified in a patient with autism spectrum disorder and developmental delays.
Area of Science:
- Genetics
- Neuroscience
- Developmental Biology
Background:
- Mutations in the cell cycle-associated protein 1 (CAPRIN1) gene are linked to a spectrum of neurodevelopmental disorders.
- CAPRIN1 plays a crucial role in neuronal mRNA transport and translation, impacting proteins essential for cell proliferation and migration.
- Pathogenic CAPRIN1 mutations typically lead to haploinsufficiency, but protein expansion is also possible.
Keywords:
autismcerebellar-ataxiadevelopmental delay in childhoodneurodevelopmental disorderstress granulesMore Related Videos
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