Resumo

Fragile X Syndrome. Rev Cubana Invest Bioméd [online]. 2007, vol.26, n.1. ISSN 0864-0300.

It was made a review of the Fragile X Syndrome, of which there were no reports in Cuba from the population point of view, until a psychopedagogical, social and clinico-genetic study of the persons with mental retardation was undertaken. 75 persons with defects of the FMR-1 gene, that is the gene related to this disease, were detected. It is a syndrome caused in most of the cases by the dynamic amplification or mutation of the repetitions of the cytosine-guanine-guanine (CGG) trinucleotide in the promoter region of the FMR-1gene. The translation of this gene gives rise to a protein denominated FMRP. It is stated that the absence or deficiency of this protein produces modifications of the neuronal activity. Today, there is no cure for the Fragile X Syndrome, eventhough experiments based on the therapy and genetic engineering are being developed to reproduce the lack of the protein causing the disease. The medical treatment will llimit itself to reduce and palliate all the symptoms that may be observed in this syndrome. The early identification of the Fragile X Syndrome is very benefitial for the parents and the family of the patient, since it diminishes the initial psychological impact and propitiates the implementation of early intervention programs, allowing a better comprehension of the natural history of the disease and the genetic study, among other aspects.

Palavras-chave : Fragile X Syndrome; FMRP protein; FMR-1 gene; mental retardation.