Regulatory genes and pathways disrupted in autism spectrum disorders

摘要: Autism spectrum disorder (ASD) is a highly prevalent and complex genetic disorder. The make-up of ASD has been extensively studied both common rare variants in up to 1000 genes have linked increased risk. While these studies highlight the complexity begin provide window for delineating pathways at risk ASD, pathogenicity specific contribution many mutations are poorly understood. Defining convergent disrupted by this large number ASD-associated will help understand disease pathogenesis direct future therapeutic efforts groups patients with distinct etiologies. Here, we review some regulatory including chromatin remodeling, transcription, alternative splicing that emerged as features from transcriptomic profiling ASD. For each category, focus on one gene (CHD8, FOXP1, RBFOX1) significantly functionally characterized recent years. Finally, discuss overlap between other neurodevelopmental disorders.