title: The emerging picture of autism spectrum disorder: genetics and pathology.
abstract: Autism spectrum disorder (ASD) is defined by impaired social interaction and communication accompanied by stereotyped behaviors and restricted interests. Although ASD is common, its genetic and clinical features are highly heterogeneous. A number of recent breakthroughs have dramatically advanced our understanding of ASD from the standpoint of human genetics and neuropathology. These studies highlight the period of fetal development and the processes of chromatin structure, synaptic function, and neuron-glial signaling. The initial efforts to systematically integrate findings of multiple levels of genomic data and studies of mouse models have yielded new clues regarding ASD pathophysiology. This early work points to an emerging convergence of disease mechanisms in this complex and etiologically heterogeneous disorder.
authors.affiliation: Interdepartmental Program in Bioinformatics.
authors.forename: Jason A
authors.initials: JA
authors.lastname: Chen
authors.forename: Olga
authors.initials: O
authors.lastname: Peñagarikano
authors.forename: T Grant
authors.initials: TG
authors.lastname: Belgard
authors.forename: Vivek
authors.initials: V
authors.lastname: Swarup
authors.forename: Daniel H
authors.initials: DH
authors.lastname: Geschwind
mesh_terms: D000818:Animals; D002659:Child Development Disorders, Pervasive / Q000235:genetics* / Q000473:pathology*; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice
keywords: human genetics; molecular pathology; mouse models; neuropathology; systems biology