Format

Send to

Choose Destination
Annu Rev Pathol. 2015;10:111-44. doi: 10.1146/annurev-pathol-012414-040405.

The emerging picture of autism spectrum disorder: genetics and pathology.

Author information

1
Interdepartmental Program in Bioinformatics.

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.

KEYWORDS:

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

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Atypon
Loading ...
Support Center