Whole blood DNA methylation arrays of individuals with Sotos syndrome and healthy control subjects

To understand how NSD1 inactivation deregulates DNA methylation, and to explore how these abnormalities affect human development, we profiled DNA methylation in SS patients and healthy control individuals using the Illumina Infinium EPIC Beadchip array. Genome-wide DNA methylation was profiled in whole blood samples of three individuals with Sotos syndrome (n=3), and age- and sex-matched healthy control subjects (n=3). Control subjects represent anonymous blood donors that were matched to probands by age and sex. We also profiled a pooled blood DNA sample of the unaffected parents of the three probands (n=5 parents).