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Orchestration of Neurodevelopmental Programs by RBFOX1
Open accessAbstract
Neurodevelopmental and neuropsychiatric disorders result from complex interactions between critical genetic factors and as-yet-unknown environmental components. To gain clinical insight, it is critical to develop a comprehensive understanding of these genetic components. RBFOX1, an RNA splicing factor, regulates expression of large genetic networks during early neuronal development, and haploinsufficiency causes severe neurodevelopmental phenotypes including autism spectrum disorder (ASD), intellectual disability, and epilepsy. Genomic testing in individuals and large patient cohorts has identified phenotypically similar cases possessing copy number variations in RBFOX1, implicating the gene as an important cause of neurodevelopmental disease. However, a significant proportion of the observed structural variation is inherited from phenotypically normal individuals, raising questions regarding overall pathogenicity of variation at the RBFOX1 locus. In this chapter, we discuss the molecular, cellular, and clinical evidence supporting the role of RBFOX1 in neurodevelopment and present a comprehensive model for the contribution of structural variation in RBFOX1 to ASD.
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Metadata
- Authors
- Bill, B. R., Lowe, J. K., DyBuncio, C. T., & Fogel, B. L.
- Affiliations
- University of California, Los Angeles (US)
- Corresponding author
- Fogel, Brent L.
- Venue
- International Review of Neurobiology
- Publisher
- Elsevier
- Published
- 2013
- Volume
- 113
- Pages
- 251-267
- ISSN
- 0074-7742 (ISSN-L)
- PMC
- PMC4318517
- OpenAlex
- W20521608
- Cited by
- 94
- References
- 68
- Citations by year
- 2026: 10 · 2025: 2 · 2024: 21 · 2023: 10 · 2022: 6 · 2021: 5 · 2020: 5 · 2019: 6 · 2018: 4 · 2017: 9 · 2016: 9 · 2015: 7
- FWCI
- 13.36
- Type
- book chapter
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- International review of neurobiology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Autism Speaks
- Simons Foundation Autism Research Initiative
- National Institutes of Health
- National Institute of Mental Health (U24MH081810, R01MH100027, K08MH086297)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Keywords
- RBFOX1, RNA splicing, neurodevelopmental disorders, autism spectrum disorder, copy number variation, haploinsufficiency, intellectual disability, epilepsy, structural variants, neuronal development
- MeSH terms
- RNA Splicing Factors, Animals, Developmental Disabilities, Child Development Disorders, Pervasive, Epilepsy, Humans, Intellectual Disability, RNA-Binding Proteins, DNA Copy Number Variations
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