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

摘要: Neurodevelopmental and neuropsychiatric disorders result from complex interactions between critical genetic factors as-yet-unknown environmental components. To gain clinical insight, it is to develop a comprehensive understanding of these RBFOX1, an RNA splicing factor, regulates expression large networks during early neuronal development, haploinsufficiency causes severe neurodevelopmental phenotypes including autism spectrum disorder (ASD), intellectual disability, epilepsy. Genomic testing in individuals patient cohorts has identified phenotypically similar cases possessing copy number variations implicating the gene as important cause disease. However, significant proportion observed structural variation inherited normal individuals, raising questions regarding overall pathogenicity at RBFOX1 locus. In this chapter, we discuss molecular, cellular, evidence supporting role neurodevelopment present model for contribution ASD.