Laurvick, C. L. et al. Rett syndrome in Australia: a review of the epidemiology. J. Pediatr. 148, 347–352 (2006).
Rett, A. On a unusual brain atrophy syndrome in hyperammonemia in childhood [German]. Wien. Med. Wochenschr. 116, 723–726 (1966).
Hagberg, B., Aicardi, J., Dias, K. & Ramos, O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett’s syndrome: report of 35 cases. Ann. Neurol. 14, 471–479 (1983).
Article PubMed CAS Google Scholar
Neul, J. L. et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann. Neurol. 68, 944–950 (2010).
Article PubMed PubMed Central Google Scholar
Neul, J. L. et al. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology 70, 1313–1321 (2008).
Article PubMed CAS Google Scholar
Amir, R. E. et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 23, 185–188 (1999).
Article PubMed CAS Google Scholar
Percy, A. K. et al. When Rett syndrome is due to genes other than MECP2. Transl. Sci. Rare Dis. 3, 49–53 (2018).
PubMed PubMed Central Google Scholar
Sajan, S. A. et al. Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet. Med. 19, 13–19 (2017).
Suter, B., Treadwell-Deering, D., Zoghbi, H. Y., Glaze, D. G. & Neul, J. L. Brief report: MECP2 mutations in people without Rett syndrome. J. Autism Dev. Disord. 44, 703–711 (2014).
Article PubMed PubMed Central Google Scholar
Tarquinio, D. C. et al. The changing face of survival in Rett syndrome and MECP2-related disorders. Pediatr. Neurol. 53, 402–411 (2015).
Article PubMed PubMed Central Google Scholar
Neul, J. L. et al. The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2. Am. J. Med. Genet. B Neuropsychiatr. Genet. 180, 55–67 (2019).
Article PubMed CAS Google Scholar
Tillotson, R. & Bird, A. The molecular basis of MeCP2 function in the brain. J. Mol. Biol. 432, 1602–1623 (2020).
Article PubMed CAS Google Scholar
Chahrour, M. et al. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 320, 1224–1229 (2008).
Article PubMed PubMed Central CAS Google Scholar
D’Mello, S. R. 3rd MECP2 and the biology of MECP2 duplication syndrome. J. Neurochem. 159, 29–60 (2021).
Nan, X., Campoy, F. J. & Bird, A. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 88, 471–481 (1997).
Article PubMed CAS Google Scholar
Skene, P. J. et al. Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state. Mol. Cell 37, 457–468 (2010).
Article PubMed PubMed Central CAS Google Scholar
Mellén, M., Ayata, P., Dewell, S., Kriaucionis, S. & Heintz, N. MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system. Cell 151, 1417–1430 (2012).
Article PubMed PubMed Central Google Scholar
Ballas, N., Lioy, D. T., Grunseich, C. & Mandel, G. Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology. Nat. Neurosci. 12, 311–317 (2009).
Article PubMed PubMed Central CAS Google Scholar
Maezawa, I., Swanberg, S., Harvey, D., LaSalle, J. M. & Jin, L. W. Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions. J. Neurosci. 29, 5051–5061 (2009).
Article PubMed PubMed Central CAS Google Scholar
Fu, C. et al. Multisystem comorbidities in classic Rett syndrome: a scoping review. BMJ Paediatr. Open. 4, e000731 (2020).
Article PubMed PubMed Central Google Scholar
Fu, C. et al. Consensus guidelines on managing Rett syndrome across the lifespan. BMJ Paediatr. Open. 4, e000717 (2020).
Article PubMed PubMed Central Google Scholar
Buchanan, C. B. et al. Behavioral profiles in Rett syndrome: data from the Natural History Study. Brain Dev. 41, 123–134 (2019).
Glaze, D. G. et al. Epilepsy and the natural history of Rett syndrome. Neurology 74, 909–912 (2010).
Article PubMed PubMed Central CAS Google Scholar
Harrison, D. J. & Webb, P. J. Scoliosis in the Rett syndrome: natural history and treatment. Brain Dev. 12, 154–156 (1990).
Article PubMed CAS Google Scholar
Neul, J. L. et al. Developmental delay in Rett syndrome: data from the Natural History Study. J. Neurodev. Disord. 6, 20 (2014).
Article PubMed PubMed Central Google Scholar
Percy, A. K. et al. Rett syndrome diagnostic criteria: lessons from the Natural History Study. Ann. Neurol. 68, 951–955 (2010).
Article PubMed PubMed Central Google Scholar
Stallworth, J. L. et al. Hand stereotypies: lessons from the Rett Syndrome Natural History Study. Neurology 92, e2594–e2603 (2019).
Article PubMed PubMed Central Google Scholar
Neul, J. L. et al. Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study. Nat. Med. 29, 1468–1475 (2023).
Article PubMed PubMed Central CAS Google Scholar
Petriti, U., Dudman, D. C., Scosyrev, E. & Lopez-Leon, S. Global prevalence of Rett syndrome: systematic review and meta-analysis. Syst. Rev. 12, 5 (2023).
Article PubMed PubMed Central Google Scholar
Hagberg, B., Goutières, F., Hanefeld, F., Rett, A. & Wilson, J. Rett syndrome: criteria for inclusion and exclusion. Brain Dev. 7, 372–373 (1985).
Article PubMed CAS Google Scholar
Kozinetz, C. A. et al. Epidemiology of Rett syndrome: a population-based registry. Pediatrics 91, 445–450 (1993).
Article PubMed CAS Google Scholar
Fehr, S. et al. Trends in the diagnosis of Rett syndrome in Australia. Pediatr. Res. 70, 313–319 (2011).
Article PubMed PubMed Central Google Scholar
Sarajlija, A. et al. Epidemiology of Rett syndrome in Serbia: prevalence, incidence and survival. Neuroepidemiology 44, 1–5 (2015).
Comments (0)