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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?

Most cases of classic Rett syndrome are caused by mutations in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) that is critical for normal brain development. The MeCP2 protein likely plays a role in forming connections (synapses) between nerve cells. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them off when they are not needed. The MeCP2 protein may also control the production of different versions of certain proteins in nerve cells. Although mutations in the MECP2 gene disrupt the normal function of nerve cells, it is unclear how these mutations lead to the signs and symptoms of Rett syndrome [1].
Last updated: 12/8/2011

References
  1. Rett syndrome. Genetics Home Reference Web site. 2011; http://ghr.nlm.nih.gov/condition=rettsyndrome. Accessed 12/8/2011.