title: [Molecular basis of Rett syndrome: A current look].
abstract: Rett syndrome (RS) is a neurodevelopmental disorder that exclusively affects girls, and occurs along with autism. It is very uncommon, and has five distinct forms, one classic and the others atypical, which generally compromise manual skills, language, and mobility, and widely associated with the appearance of stereotypy and early epilepsy. With the aim of updating the information about RS, a search was performed in the computer data bases of PubMed, Hinari, SCIELO and Medline, as well as consulting other web sites including OMIM, ORPHANET, GeneMap, Genetests, Proteins and Gene, using the descriptors "Síndrome de Rett", "genes y Síndrome de Rett", "Rett Syndrome gene", "Rett Syndrome", "Rett Syndrome gene therapy", and "Rett Syndrome review". Of the 1,348 articles found, 42 articles were selected, which reported 3 genes causing the syndrome: MECP2, CDKL5 and FOXG. The MECP2 gene is mutated in 80% of patients with classic RS, as well as in 40% of those affected by any of its atypical forms. RS with early epilepsy and the congenital variant are mainly due to variations in the CDKL5 and FOXG1 genes, respectively.
  
  
  CONCLUSIONS
  The diagnosis of RS is based on clinical criteria. However, the advances in molecular biology and genetics have opened a wide range of possibilities for diagnosing the different clinical forms that could not be classified before. Molecular analysis can help confirm the clinical criteria and provided information as regards the prognosis of the patient.
authors.affiliation: Departamento de Genética Molecular, Hospital Clínico Quirúrgico Hermanos Ameijeiras, La Habana, Cuba.
authors.forename: Gretta
authors.initials: G
authors.lastname: Pantaleón F
authors.affiliation: Instituto de Neurología y Neurocirugía Prof. Rafael Estrada, La Habana, Cuba. Electronic address: juvier@infomed.sld.cu.
authors.forename: Tamara
authors.initials: T
authors.lastname: Juvier R
mesh_terms: D004827:Epilepsy / Q000209:etiology*; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D008967:Molecular Biology / Q000379:methods; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D011379:Prognosis; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D015518:Rett Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D019956:Stereotypic Movement Disorder / Q000209:etiology*
chemical_list: C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D009419:Nerve Tissue Proteins; D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human
keywords: CDKL5; Early epilepsy; Epilepsia precoz; FOXG1; MECP2; Neurodevelopmental disorder; Rett syndrome; Síndrome de Rett; Trastorno del neurodesarrollo