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Diseases

Genetic and Rare Diseases Information Center (GARD)

Kabuki syndrome


Other Names for this Disease
  • NKS
  • Niikawa-Kuroki syndrome
  • KMS
  • Kabuki make up syndrome
  • Kabuki make-up syndrome
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Cause

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What causes Kabuki syndrome?

Kabuki syndrome is a genetic condition that may be caused by a mutation in the KMT2D gene (in up to 80% of cases) or the KDM6A gene. In some people with Kabuki syndrome, the cause is unknown.

The KMT2D gene gives the body instructions to make an enzyme called lysine-specific methyltransferase 2D, which is present in many parts of the body. This enzyme modifies proteins called histones, which attach to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (a process called methylation), the enzyme helps to control the activity of certain genes. It appears to activate certain genes that are important for development.

The KDM6A gene gives the body instructions to make an enzyme called lysine-specific demethylase 6A. This enzyme helps to remove methyl groups from certain histones. Like lysine-specific methyltransferase 2D, this enzyme also helps to control the activity of certain genes. Research suggests that the two enzymes work together.

Mutations in either of these genes result in the absence of the related enzyme, which disrupts histone methylation and impairs the activation of certain genes needed for normal development.[1]
Last updated: 2/8/2016

References
  1. Kabuki syndrome. Genetics Home Reference. October, 2013; http://ghr.nlm.nih.gov/condition/kabuki-syndrome.


Other Names for this Disease
  • NKS
  • Niikawa-Kuroki syndrome
  • KMS
  • Kabuki make up syndrome
  • Kabuki make-up syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.