Display Settings:

Format

Send to:

Choose Destination
J Clin Invest. 2009 Apr;119(4):747-54. doi: 10.1172/JCI37934. Epub 2009 Apr 1.

The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders.

Author information

  • 1Vanderbilt Kennedy Center for Research on Human Development and Department of Pharmacology,Vanderbilt University Medical Center, Nashville, Tennessee, USA. plevitt@usc.edu

Abstract

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder with high heritability. Here, we discuss data supporting the view that there are at least two distinct genetic etiologies for ASD: rare, private (de novo) single gene mutations that may have a large effect in causing ASD; and inherited, common functional variants of a combination of genes, each having a small to moderate effect in increasing ASD risk. It also is possible that a combination of the two mechanisms may occur in some individuals with ASD. We further discuss evidence from individuals with a number of different neurodevelopmental syndromes, in which there is a high prevalence of ASD, that some private mutations and common variants converge on dysfunctional ERK and PI3K signaling, which negatively impacts neurodevelopmental events regulated by some receptor tyrosine kinases.

PMID:
19339766
[PubMed - indexed for MEDLINE]
PMCID:
PMC2662567
Free PMC Article

Images from this publication.See all images (3)Free text

Figure 1
Figure 2
Figure 3
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Icon for Journal of Clinical Investigation Icon for PubMed Central
    Loading ...
    Write to the Help Desk