Kabuki syndrome

Although most children with Kabuki syndrome have point mutations there are also others with deletions in one of the 2 genes described to date that cause this genetic entity: KMT2D, KDM6A. The first gene is located on chromosome 12q13 and causes Kabuki syndrome type 1 or classic which is the most frequent (50-80% of cases). This gene produces an enzyme called lysine methyltransferase 2D which acts as a regulatory protein whose function is to bind and package the chromosomes causing the genes to be more or less expressed (altering the DNA methylation process).  

The KDM6A gene is located at Xq11.3 and can produce Kabuki syndrome type 2 with a somewhat different clinical picture than the former (5% of cases). There is a group of patients with very similar clinical features but the gene that causes it has not been found, so it is suspected that there may be other genes yet to be discovered.