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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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Overview



What is Rett syndrome?

What causes Rett syndrome?

Is Rett syndrome inherited?


What is Rett syndrome?

Rett syndrome is a childhood disorder characterized by normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, abnormal walk (gait), seizures, and mental retardation. It affects females almost exclusively.[1]
Last updated: 12/8/2011

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 [2].
Last updated: 12/8/2011

Is Rett syndrome inherited?

Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are sporadic, which means the mutation occurs randomly, and are not inherited. A few families have been described with more than one affected family member. These cases helped researchers determine that Rett syndrome has an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition.[2]
Last updated: 12/8/2011

References
  1. Rett Syndrome Fact Sheet. National Institute of Neurological Disorders and Stroke. 2011 ; http://www.ninds.nih.gov/disorders/rett/detail_rett.htm. Accessed 12/8/2011.
  2. Rett syndrome. Genetics Home Reference Web site. 2011; http://ghr.nlm.nih.gov/condition=rettsyndrome. Accessed 12/8/2011.