Patients with Kabuki syndrome, also called Kabuki make-up syndrome (KMS) [OMIM #147920] have characteristic facial features, short stature, congenital heart defects, skeletal anomalies, immunological abnormalities, and mild to moderate mental retardation. Facial features include long palpebral fissures with eversion of the lower lateral eyelid, sparse and arched eyebrows, depressed nasal tip, and large prominent earlobes. Other features include joint laxity, dental abnormalities, finger-tip pads, and renal/urinary tract anomalies. Some individuals have been reported with normal intelligence .
Mutations of the KDM6A (lysine specific demethylase 6A) [OMIM#300128] gene were reported in 3/32 (9%) patients with Kabuki syndrome that were negative for mutations in the KMT2D (MLL2) gene. Pathogenic sequence changes detected included two nonsense mutations and 1 frameshift mutation. In addition, exonic deletions of KDM6A have also been previously reported. The KDM6A gene codes for a residue protein that contains two functional domains and one of its functions is working with KMT2D in the epigenetic control of transcriptionally active chromatin. KDM6A has 29 coding exons and is located at Xp11.3 and largely escapes X-inactivation.