Kabuki syndrome is caused by mutation in the KMT2D gene (Ng et al, 2010), encoding for a ubiquitously expressed histone-lysine N-methyltransferase, which monomethylates lysine 4 of histone H3 (H3K4me1) of distal enhancers, leading to transcriptional activation (Hu et al, 2013). The gene discussed is KMT2D; the disease is Kabuki syndrome.