Kabuki syndrome revisited

J Hum Genet. 2012 Apr;57(4):223-7. doi: 10.1038/jhg.2012.28. Epub 2012 Mar 22.


Kabuki syndrome (KS) is a congenital syndrome with an estimated prevalence of 1 in 32 000. Individuals with the syndrome have multiple malformations, but remain identifiable by the presence of the distinctive craniofacial anomalies associated with the condition. Discovered in 1981 by two independent groups of Japanese scientists, spearheaded by Yoshikazu Kuroki and Norio Niikawa, much ambiguity relating to the syndrome persisted for over 30 years after it was initially discovered, with no definitive conclusions about its etiology having ever been established. Recently, mutations within the MLL2 gene have been identified as potentially implicative. Mutations within the MLL2 gene in KS patients have been promising not only because of their relatively high presence in affected individuals, but also because of pre-existing information in the literature having validated mutant MLL2 genes in KS as a highly significant finding. Although found to be present in the majority of cases, the absence of MLL2 mutations in all patients with the syndrome is suggestive that the condition may still display a degree of genetic heterogeneity, and further still, present with more complex inter genomic interactions than initially proposed.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • DNA-Binding Proteins / genetics*
  • Epigenesis, Genetic
  • Face / abnormalities
  • Genetic Heterogeneity
  • Genome, Human
  • Hematologic Diseases / genetics*
  • Histone Demethylases / genetics
  • Humans
  • Mutation
  • Neoplasm Proteins / genetics*
  • Nuclear Proteins / genetics
  • Phenotype
  • Prevalence
  • Vestibular Diseases / genetics*


  • DNA-Binding Proteins
  • KMT2D protein, human
  • Neoplasm Proteins
  • Nuclear Proteins
  • Histone Demethylases
  • KDM6A protein, human

Supplementary concepts

  • Kabuki syndrome