NICHD Rett syndrome Research Information

Intellectual and developmental disabilities, including Rett syndrome, are a significant focus of the NICHD’s support for research. NICHD has supported research on Rett syndrome for the past 25 years and continues to do so in the hope of learning how to slow, stop, and ultimately reverse its effects. NICHD supported the researchers who in 1999 discovered that a mutation of the MECP2 gene causes Rett syndrome.


  1. Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999). Rett syndrome is caused by mutations in X-linked MECP2. Nature Genetics, 23(2), 185–188.
  2. Schollen, E., Smeets, E., Deflem, E., Fryns, J. P., & Mathis, G. (2003). Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome. Human Mutations, 22, 116–120.
  3. Zoghbi, H. Y. (2005). MeCP2 dysfunction in humans and mice. Journal of Child Neurology, 20, 736–740.
  4. Neul, J. L., & Zoghbi, H. Y. (2004). Rett syndrome: A prototypical neurodevelopmental disorder. Neuroscientist, 10, 118–128.
  5. Schanen, N. C. (2012). Investigation of MECP2 function in Rett syndrome, NIH grant project. Retrieved May 10, 2012, from
  6. Derecki, N. C., Cronk, J. C., Lu, Z., Xu, E., Abbott, S. B.,Guyenet, P. G., et al. (2012). Wild-type microglia arrest pathology in a mouse model of Rett syndrome. Nature, 484, 105–109.
  7. Lioy, D. T., Garg, S. K., Monaghan, C. E., Raber, J., Foust,K. D., Kaspar, B. K., et al. (2011). A role for glia in the progression of Rett's syndrome. Nature, 475, 497–500.
  8. Nagarajan, R. P., Hogart, A. R., Gwye, Y., Martin, M. R., & LaSalle, J. M. (2006). Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation. Epigenetics, 1(4), e1–11.
  9. Rare Diseases Clinical Research Network. (2012). Angelman, Rett, and Prader-Willi Syndromes Consortium. Retrieved June 23, 2012, from: external link
  10. Percy, A. K., Lane, J. B., Childers, J., Skinner, S., Annese, F., Barrish, J., et al. (2007). Rett syndrome: North American database. Journal of Child Neurology, Dec;22(12), 1338–41.
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