The emerging picture of autism spectrum disorder: Genetics and pathology

Jason A. Chen, Olga Peñagarikano, T. Grant Belgard, Vivek Swarup, Daniel H. Geschwind

Research output: Contribution to journalArticlepeer-review

196 Scopus citations


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.

Original languageEnglish
Pages (from-to)111-144
Number of pages34
JournalAnnual Review of Pathology: Mechanisms of Disease
StatePublished - 1 Jan 2015
Externally publishedYes


  • human genetics
  • molecular pathology
  • mouse models
  • neuropathology
  • systems biology


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