Loss of Function of KMT2D in Kabuki Syndrome

Loss of function mutations in histone-lysine-N-methyltransferase (KMT2D), an epigenetic modifier associated with active transcription, is the major cause of Kabuki syndrome, a rare disorder that affects 1 in 32,000 births. Kabuki syndrome is characterized by distinct facial features such as long palpebral fissures with eversion of the lateral third of the lower eyelid and short columella with depressed nasal tip, skeletal anomalies, intellectual disability, and postnatal growth deficiency. Besides Kabuki syndrome, germline mutations in KMT2D are associated with another rare multiple malformation syndrome characterized by branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism. Functionally characterized KMT2D mutations, as well as mutations occuring in the same residues, are annotated.

Summary from Reactome (R-HSA-9944971), read 2026-09-23.