Figure 1

Probes differentially methylated (Δβ ≥0.15) in neurodevelopmental disorders. (A) Venn diagrams showing 391 probes identified as differentially methylated among Rett syndrome (RTT), autism (AUT), and control (CTL) individuals in the discovery cohort. Probes hypermethylated in RTT and AUT or hypomethylated in RTT and AUT are also shown. (B), (C) The selected 40 probes comparing lymphoblastoid cell line samples from females diagnosed with neurodevelopmental disorders (RTT, AUT) with CTL females were used for hierarchical clustering and principal component analysis (PCA). (B) Hierarchical clustering of the 20 females in the discovery cohort. Each row represents an individual and each column represents one probe. A heat map showing relative methylation differences (yellow = more methylated; red = less methylated) is presented in the clustering dendrogram. The major dendrogram branches defined by the methylation data correspond to diagnosis (Dx), rather than to age. (C) PCA of the 40 probe methylation profile for the 20 discovery females. Three principle components (PC1 to PC3), representing 40.7%, 22.1%, and 7.1% of the variance, respectively, are shown.