DNA methylation profiling of Arboleda-Tham syndrome in primary human fibroblasts. 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. Overall design: 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.