Early on, it was apparent that rare CNVs tended to impact genes involved in neuronal function (Walsh et al., 2008). These included functional categories related to synaptic activity and neurodevelopment (Malhotra et al., 2011; Walsh et al., 2008). Kirov et al. interrogated, at a finer level, specific protein complexes and noted that de novo CNVs were significantly enriched for components of the N-methyl-d-aspartate receptor (NMDAR) and neuronal activity-regulated cytoskeleton-associated protein postsynaptic signaling complexes as well as other components of the postsynaptic density (Kirov et al., 2011).
