Fig. 1

DYT28 episignature identification. A Hierarchical clustering with Ward’s method on Euclidean distance was performed. In the heatmap plot, each row illustrates a selected CpG site, and each column depicts a sample. The heatmap color scale indicates the range of methylation level; from blue (no methylation or 0) to red (full methylation or 1). The detected episignature clearly differentiates between samples with pathogenic KMT2B variants and controls. B The first two dimensions of a MDS plot using the selected probes separate the samples with pathogenic variants in KMT2B from control samples. Blue circles represent control subjects and red circles indicate subjects with pathogenic KMT2B variants and a confirmed diagnosis of DYT28. Ellipses indicate 95% confidence interval