NSD1 and Sotos syndrome: Methylation profiling was undertaken on DNA from eight individuals with Sotos syndrome and a confirmed intragenic pathogenic variant in NSD1 (seven patients with truncating variants and one missense variant; see Table 1) and three familial carriers of the NSD1 exon 3 deletion using a next generation sequencing based assay of genome wide CpG methylation for >3M CpGs [25].