Síndrome x frágil: Presentación clínica, patología y tratamiento

Translated title of the contribution: Fragile x syndrome: Clinical presentation, pathology and treatment

Ma Jimena Salcedo-Arellano, Randi J. Hagerman, Verónica Martínez-Cerdeño

Research output: Contribution to journalArticlepeer-review


Fragile X syndrome is the monogenetic condition that produces more cases of autism and intellectual disability. The repetition of CGG triplets (> 200) and their methylation entail the silencing of the FMR1 gene. The FMRP protein (product of the FMR1 gene) interacts with ribosomes by controlling the translation of specific messengers, and its loss causes alterations in synaptic connectivity. Screening for fragile X syndrome is performed by polymerase chain reaction. Current recommendation of the American Academy of Pediatrics is to test individuals with intellectual disability, global developmental retardation or with a family history of presence of the mutation or pre-mutation. Hispanic countries such as Colombia, Chile and Spain report high prevalence of fragile X syndrome and have created fragile X national associations or corporations that seek to bring patients closer to available diagnostic and treatment networks.

Translated title of the contributionFragile x syndrome: Clinical presentation, pathology and treatment
Original languageSpanish
Pages (from-to)58-64
Number of pages7
JournalGaceta medica de Mexico
Issue number1
StatePublished - Jan 1 2020


  • FMR1 gene
  • FMRP protein
  • Fragile X syndrome

ASJC Scopus subject areas

  • Medicine(all)


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