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.
Pat Levitt, Daniel B. Campbell
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