Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder.

ABSTRACT: 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 obser

SUBMITTER: Bill BR 

PROVIDER: S-EPMC4318517 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature