Pathway analysis of genes impacted by de novo CNVs in SCZ lends support to independent findings from our group (Walsh et al., 2008) and others (Kirov et al., 2011) that rare CNVs in SCZ are enriched for genes that are related to synaptic function and other genes involved in neurodevelopment. By contrast, categories that were found to be enriched among de novo CNVs in BD were related to cell proliferation and shape and phospholipid metabolism (Table 5), the biological relevance of which is far from obvious. Greater knowledge of the specific genes involved in these disorders is needed to determine how these pathways might relate to the pathophysiology of disease.
