Fig. 3

Genes within the hemizygous WBS deletion show reduced expression in differentiated iPSC neurons. The primers used for validation are described in Additional file 5: Table S1. a A bar graph of the neuronally expressed genes at 7q11.23 show the log2 fold change expression of WBS- vs. WT-iPSC neurons, as determined through microarray analysis. Genes with no change in expression were below the array detection threshold (average signal ≥100). All expressed genes that were confirmed to be deleted through MLPA were found to be downregulated [11]. A log2 fold change of -1 corresponds with half the expression of the controls as indicated by the dashed line. b qRT-PCR of five neuronally expressed genes was used to verify the array results. Expression was normalized to HMBS, and an averaged fold change of each WBS neuronal line (n = 3) is presented relative to the WT control. All five genes were expressed at less than half the level of expression in WT iPSC-derived neurons. Data are shown as mean ± SEM