The potential for non-genetic susceptibility to mediate part of the risk of autism spectrum disorder (ASD) has prompted a number of studies to date, all showing evidence for epigenetic differences characterizing the individuals with ASD. The modest differences in DNA methylation observed have indicated an underlying cellular mosaicism for epigenetic dysregulation. The studies to date have not comprehensively addressed potential confounding issues like cell subcomposition differences, transcriptional and DNA sequence variability. Additionally, it is possible that mutations in protein-coding genes encoding transcriptional and chromatin regulatory proteins lead to the epigenetic changes in a subset of individuals with ASD. More definitive studies are now needed to allow higher confidence insights into epigenetic events occurring in early embryogenesis in individuals with ASD.
Keywords: DNA methylation; autism; embryo; epigenetic.