Figure 3

Loss of DNA methylation at CpG islands associated with KDM5C mutations. A) Volcano plot of DNA methylation differences between controls and KDM5C mutation cases (delta beta, X-axis) versus statistical significance –log10(p) in CpG islands (left) and non-CpG islands (right). Negative delta beta represents loss and positive delta beta gain of DNA methylation in KDM5C mutation cases. Black lines represent p-values at three levels of confidence 95% (6.69E-06), 99% (1.07E-06) and 99.5% (2.00e-07). B) Boxplot of the mean methylation of all microarray probes within CpG islands (left) and non-CpG islands (right) in controls (C) and in KDM5C mutations cases (K).