Journal
JOURNAL OF CLINICAL INVESTIGATION
Volume 119, Issue 4, Pages 747-754Publisher
AMER SOC CLINICAL INVESTIGATION INC
DOI: 10.1172/JCI37934
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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 PI13K signaling, which negatively impacts neurodevelopmental events regulated by some receptor tyrosine kinases.
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