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Genetic and Rare Diseases Information Center (GARD)

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Kabuki syndrome

Other Names for this Disease
  • Kabuki make up syndrome
  • KMS
  • Niikawa-Kuroki syndrome
  • NKS
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What causes Kabuki syndrome?

Researchers have recently identified changes (mutations) in a gene called MLL2 in the majority of cases of Kabuki syndrome. This gene provides instructions for making a protein that is important for regulating chromatin, which works to keep DNA tightly packed into the nuclei of our cells. Mutations in the MLL2 gene result in the production of a protein that is unable to properly perform its job within the body. In some people with Kabuki syndrome, mutations have not been found in the MLL2 gene. In these cases, the cause of Kabuki syndrome remains unknown.[1][2]
Last updated: 10/1/2010

  1. Discovered gene causes Kabuki syndrome. National Human Genome Research Institute. August, 15, 2010; Accessed 9/27/2010.
  2. National Institutes of Health. Kabuki Syndrome Gene Identified. NIH Research Matters. August 23, 2010; Accessed 9/25/2010.