Differential expression (DE) analysis comparing controls to 22q11DS patients.
A) Number of DE genes at p<0.005. Four hundred probes (245 down-regulated, 155 up-regulated) were DE in 22q11DS vs. controls. B) Gene ontology analysis (q≤.05) of DE genes in 22q11DS vs. controls. Top categories included ensheathment of neurons, and regulation of cellular proliferation, signal transduction, and cell communication. Bars represent the–Log of the over-representation q-value. Red and green represent the proportion of up and down-regulated genes, respectively. C) Heat map depicting fold changes in peripheral blood samples for each 22q11DS participant. Genes are in rows and samples are in columns. Shades of red indicate up-regulation compared to the control condition, shades of green indicate down-regulation. D) Ingenuity pathway analysis results of a top network associated with significantly DE genes (p < .005) in 22q11DS vs. controls. This network is associated with cellular development, and cellular growth and proliferation. According to IPA, 10 different molecules in this network are associated with axon guidance signaling, including genes MTORC1, GNB1L and PDGFA, which were all down-regulated in 22q11DS patients.