Fig. 3

Regions differentially methylated in epi-ADNP-1 and epi-ADNP-2. Approximately 56% of the differentially methylated regions (DMRs) in epi-ADNP-1 and 26% of DMRs in epi-ADNP-2 are specific to the subtypes in which they are identified. Although the remaining DMRs are shared across the two subtypes, in the majority of instances they show contrasting methylation patterns. The small number of regions showing the same direction of change in epi-ADNP-1 and epi-ADNP-2 (< 10% of DMRs) tend to represent small levels of methylation change and do not generate fully overlapping patterns in epi-ADNP-1 and epi-ADNP-2. a At the most differentially methylated region (intergenic) in epi-ADNP-1 (blue), no methylation change is observed in the epi-ANDP-2 cases (red) relative to controls (green). b An intronic region in RBM26 is hemimethylated in epi-ADNP-2 cases while showing a hypomethylated pattern in controls and ADNP-1. c A region in the gene body of HSPA12B represents an example of a contrasting DNA methylation change in epi-ADNP-1 and epi-ADNP-2, being hypo- and hypermethylated in each, respectively. d A region in the terminal end of the PACSIN1 gene is among the very few DMRs showing a considerable methylation change in the same direction (hypomethylation) in both episignatures. In this region, however, the two subtypes are still distinguishable from each other by epi-ADNP-2 showing an intermediate pattern between epi-ADNP-1 and controls. X-axis, genomic coordinate; Y-axis, DNA methylation levels between 0 and 1; circles, DNA methylation level for every individual at one CpG site, methylation patterns in all DMRs are provided in Additional file 1: Figures S2–S14