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Pat Levitt, Daniel B. Campbell
J Clin Invest. 2009;
119(4):747
doi:10.1172/JCI37934
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utism 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.
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