Kabuki syndrome is usually caused by mutations in two genes: KMT2D (histone-lysine N-methyltransferase 2D) and KDM6A (lysine-specific demethylase 6A; Ng et al., 2010; Hannibal et al., 2011; Lederer et al., 2012; Miyake et al., 2013). This evidence concerns the gene KMT2D and Kabuki syndrome.