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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Rett Syndrome

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Disease relevance of Rett Syndrome


Psychiatry related information on Rett Syndrome


High impact information on Rett Syndrome


Chemical compound and disease context of Rett Syndrome


Biological context of Rett Syndrome


Anatomical context of Rett Syndrome


Gene context of Rett Syndrome

  • CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome [27].
  • MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression [28].
  • Based on its established expression pattern and known function, GLRA2 was selected as a candidate gene for Rett syndrome [29].
  • The knowledge of additional existing MBD proteins and their expression pattern is important in the context of Rett syndrome [30].
  • Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2 [31].

Analytical, diagnostic and therapeutic context of Rett Syndrome


  1. A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Meloni, I., Bruttini, M., Longo, I., Mari, F., Rizzolio, F., D'Adamo, P., Denvriendt, K., Fryns, J.P., Toniolo, D., Renieri, A. Am. J. Hum. Genet. (2000) [Pubmed]
  2. Separate respiratory phenotypes in methyl-CpG-binding protein 2 (Mecp2) deficient mice. Bissonnette, J.M., Knopp, S.J. Pediatr. Res. (2006) [Pubmed]
  3. Preserved speech variant is allelic of classic Rett syndrome. De Bona, C., Zappella, M., Hayek, G., Meloni, I., Vitelli, F., Bruttini, M., Cusano, R., Loffredo, P., Longo, I., Renieri, A. Eur. J. Hum. Genet. (2000) [Pubmed]
  4. Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: an immunochemical study of subcellular fractions. Aber, K.M., Nori, P., MacDonald, S.M., Bibat, G., Jarrar, M.H., Kaufmann, W.E. Neuroscience (2003) [Pubmed]
  5. Healthy deliveries from biopsied human embryos. Grifo, J.A., Tang, Y.X., Munné, S., Alikani, M., Cohen, J., Rosenwaks, Z. Hum. Reprod. (1994) [Pubmed]
  6. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Chen, R.Z., Akbarian, S., Tudor, M., Jaenisch, R. Nat. Genet. (2001) [Pubmed]
  7. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Shahbazian, M., Young, J., Yuva-Paylor, L., Spencer, C., Antalffy, B., Noebels, J., Armstrong, D., Paylor, R., Zoghbi, H. Neuron (2002) [Pubmed]
  8. Screening for mutations in the MECP2 (Rett syndrome) gene in Gilles de la Tourette syndrome. Rosa, A.L., Jankovic, J., Ashizawa, T. Arch. Neurol. (2003) [Pubmed]
  9. Choline acetyltransferase activity and vesamicol binding in Rett syndrome and in rats with nucleus basalis lesions. Wenk, G.L., Mobley, S.L. Neuroscience (1996) [Pubmed]
  10. Subgroups in autism: are there behavioural phenotypes typical of underlying medical conditions? Gillberg, C. Journal of intellectual disability research : JIDR. (1992) [Pubmed]
  11. Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Horike, S., Cai, S., Miyano, M., Cheng, J.F., Kohwi-Shigematsu, T. Nat. Genet. (2005) [Pubmed]
  12. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Guy, J., Hendrich, B., Holmes, M., Martin, J.E., Bird, A. Nat. Genet. (2001) [Pubmed]
  13. Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. Ryan, S.G., Chance, P.F., Zou, C.H., Spinner, N.B., Golden, J.A., Smietana, S. Nat. Genet. (1997) [Pubmed]
  14. Decreased cerebrospinal fluid levels of beta-phenylethylamine in patients with Rett syndrome. Satoi, M., Matsuishi, T., Yamada, S., Yamashita, Y., Ohtaki, E., Mori, K., Riikonen, R., Kato, H., Percy, A.K. Ann. Neurol. (2000) [Pubmed]
  15. Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome. Zoghbi, H.Y., Milstien, S., Butler, I.J., Smith, E.O., Kaufman, S., Glaze, D.G., Percy, A.K. Ann. Neurol. (1989) [Pubmed]
  16. Serotonin transporter abnormality in the dorsal motor nucleus of the vagus in Rett syndrome: potential implications for clinical autonomic dysfunction. Paterson, D.S., Thompson, E.G., Belliveau, R.A., Antalffy, B.A., Trachtenberg, F.L., Armstrong, D.D., Kinney, H.C. J. Neuropathol. Exp. Neurol. (2005) [Pubmed]
  17. Quantitative 1H MR spectroscopic imaging in early Rett syndrome. Horská, A., Naidu, S., Herskovits, E.H., Wang, P.Y., Kaufmann, W.E., Barker, P.B. Neurology (2000) [Pubmed]
  18. Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. Armstrong, J., Pineda, M., Aibar, E., Geán, E., Monrós, E. Ann. Neurol. (2001) [Pubmed]
  19. Association by guilt: identification of DLX5 as a target for MeCP2 provides a molecular link between genomic imprinting and Rett syndrome. Bapat, S., Galande, S. Bioessays (2005) [Pubmed]
  20. MeCP2 mutations in children with and without the phenotype of Rett syndrome. Hoffbuhr, K., Devaney, J.M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E.P., Naidu, S. Neurology (2001) [Pubmed]
  21. Temporal shift in methyl-CpG binding protein 2 expression in a mouse model of Rett syndrome. Metcalf, B.M., Mullaney, B.C., Johnston, M.V., Blue, M.E. Neuroscience (2006) [Pubmed]
  22. Dendritic cytoskeletal protein expression in mental retardation: an immunohistochemical study of the neocortex in Rett syndrome. Kaufmann, W.E., MacDonald, S.M., Altamura, C.R. Cereb. Cortex (2000) [Pubmed]
  23. Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice. Gemelli, T., Berton, O., Nelson, E.D., Perrotti, L.I., Jaenisch, R., Monteggia, L.M. Biol. Psychiatry (2006) [Pubmed]
  24. MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions. Kishi, N., Macklis, J.D. Mol. Cell. Neurosci. (2004) [Pubmed]
  25. Altered development of glutamate and GABA receptors in the basal ganglia of girls with Rett syndrome. Blue, M.E., Naidu, S., Johnston, M.V. Exp. Neurol. (1999) [Pubmed]
  26. Is Rett syndrome a chromosome breakage syndrome? Telvi, L., Leboyer, M., Chiron, C., Feingold, J., Ponsot, G. Am. J. Med. Genet. (1994) [Pubmed]
  27. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Mari, F., Azimonti, S., Bertani, I., Bolognese, F., Colombo, E., Caselli, R., Scala, E., Longo, I., Grosso, S., Pescucci, C., Ariani, F., Hayek, G., Balestri, P., Bergo, A., Badaracco, G., Zappella, M., Broccoli, V., Renieri, A., Kilstrup-Nielsen, C., Landsberger, N. Hum. Mol. Genet. (2005) [Pubmed]
  28. MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression. Makedonski, K., Abuhatzira, L., Kaufman, Y., Razin, A., Shemer, R. Hum. Mol. Genet. (2005) [Pubmed]
  29. Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome. Cummings, C.J., Dahle, E.J., Zoghbi, H.Y. Am. J. Med. Genet. (1998) [Pubmed]
  30. Comparative study of methyl-CpG-binding domain proteins. Roloff, T.C., Ropers, H.H., Nuber, U.A. BMC Genomics (2003) [Pubmed]
  31. Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2. Huppke, P., Ohlenbusch, A., Brendel, C., Laccone, F., Gärtner, J. Am. J. Med. Genet. A (2005) [Pubmed]
  32. MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. Auranen, M., Vanhala, R., Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I. Neurology (2001) [Pubmed]
  33. Reduced nerve growth factor in Rett syndrome postmortem brain tissue. Lipani, J.D., Bhattacharjee, M.B., Corey, D.M., Lee, D.A. J. Neuropathol. Exp. Neurol. (2000) [Pubmed]
  34. Medium-term open label trial of L-carnitine in Rett syndrome. Ellaway, C.J., Peat, J., Williams, K., Leonard, H., Christodoulou, J. Brain Dev. (2001) [Pubmed]
  35. Abnormalities of thyroid function and glucose control in subjects with Rett syndrome. Cooke, D.W., Naidu, S., Plotnick, L., Berkovitz, G.D. Horm. Res. (1995) [Pubmed]
  36. Discussant--pathophysiologies of Rett syndrome. Segawa, M. Brain Dev. (2001) [Pubmed]
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