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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Rett syndrome


Other Names for this Disease

  • Autism, dementia, ataxia, and loss of purposeful hand use
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Cause

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What causes Rett syndrome?

Rett syndrome is typically caused by changes (mutations) in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) needed for the development of the nervous system and normal brain function. Mutations in the MECP2 gene that cause Rett syndrome can change the MeCP2 protein or result in the production of too little protein, which appears to disrupt the normal function of neurons and other cells in the brain.

Several conditions caused by changes in other genes (such as FOXG1 syndrome) have overlapping signs and/or symptoms of Rett syndrome. These conditions were once thought to be variant forms of Rett syndrome, but are now usually considered to be separate disorders.[1]
Last updated: 8/6/2014

References
  1. Rett syndrome. Genetics Home Reference. December, 2013; http://ghr.nlm.nih.gov/condition/rett-syndrome. Accessed 8/6/2014.


Other Names for this Disease
  • Autism, dementia, ataxia, and loss of purposeful hand use
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.