Thanks to targeted sequencing and genome-wide DNA methylation analyses, in 2017, Sobreira and colleagues, investigating a cohort of 27 patients with a clinical diagnosis of Kabuki syndrome (KS1, OMIM #147920; KS2, OMIM #300867), found two patients positive for mutations in KMT2A (a de novo heterozygous missense mutation in pt#KS8 and a donor splice site mutation in pt#KS29) [31]. Here, KMT2A is linked to Kabuki syndrome.