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. 2012 Sep;14(3):239–252.

TABLE I. Molecular mechanisms and genes implicated in autism map onto a limited number of steps in neurodevelopment. *We refer readers to https://gene.sfari.org/autdb/Welcome.do for references regarding each gene mutation.

Molecular mechanisms implicated by mutation Gene/mutation* Neurodevelopmental step (from Figure 1)
Regulation of gene expression Multiple highly recurrent, large CNVs, MeCP2, MBD5, CHD3, CHD7, CHD8, EHMT1, FOXP2 Neuronal morphogenesis; Axon and dendrite growth and branching. Experience-dependent synapse modification; Synaptic plasticity
Pre-mRNA splicing A2BP1/FOX1 Many
Protein localization, translation, turnover FMR1, CYFIP1, NHE6I9, UBE3A Neuronal morphogenesis; Axon and dendrite growth and branching; Experience-dependent synapse modification; Synaptic plasticity
Synaptic transmission CACNA1C, CACNA1H, RIMS3, SYN1, GRIK2 Experience-dependent synapse modification; Synaptic plasticity
Cell signaling TSC1/2, PTEN, MAPK3, MET, PTCHD1, RELN Neuronal morphogenesis; Axon and dendrite growth and branching. Experience-dependent synapse modification; Synaptic plasticity
Synaptic scaffolding and cytoskeletal proteins AHI1, SHANK2/3 Experience-dependent synapse modification. Synaptic plasticity
Neuronal cell adhesion CNTNAP2, NLGN3, NLGN4X, IL1RAPL1, NRXN1, CNTN4 Neuronal morphogenesis, Axon and dendrite growth and branching; Experience-dependent synapse modification; Synaptic plasticity