Fig. 2: Individuals with ASXL1 variants exhibit altered epigenetic aging.

A Box plot comparing “DNA methylation age” (blue) derived from the Illumina 850 K data and reported chronological age (red), on the y-axis. Groups are indicated on the x-axis and include typically developing controls (n = 35), individuals with ASXL1 variants (n = 17), individual with ASXL2 variant (n = 1), and individuals with ASXL3 variants (n = 3). Each individual observation is plotted as a circle. To assess whether the mean difference between DNAm age and chronological age is statistically significant within each group we used a paired Wilcoxon test (*p-value < 0.05). (B) Box plot of epigenetic age acceleration (y-axis) obtained by subtracting the chronological age from the estimated DNAm age for each individual. To assess whether mean epigenetic age acceleration estimates are significantly different between controls and individuals carrying variants in ASXL genes we used a Mann-Whitney U-Test, except for ASXL2 with a n = 1.