DNA methylation profiling of Arboleda-Tham syndrome in primary human fibroblasts

Arboleda-Tham Syndrome is a rare disease caused by de novo mutations in the KAT6A gene. Epigenetic changes to the genome resulting from pathogenic mutations were investigated by DNAme profiling. Genome wide DNA methylation profiling of fibroblast cell cultures from skin punch biopsies of control and arboleda-tham syndrome affected individuals. The Illumina MethylationEPIC Human DNA methylation Beadchip was used to obtain DNA methylation profiles across approximately 850,000 CpGs. Samples include 12 unique healthy controls and 8 unique affected individuals and 5 replicated samples.