Fragile X syndrome: clinical presentation, pathology and treatment

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

Research output: Contribution to journalArticlepeer-review

Abstract

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 premutation. 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.

Original languageEnglish (US)
Pages (from-to)60-66
Number of pages7
JournalGaceta medica de Mexico
Volume156
Issue number1
DOIs
StatePublished - Jan 1 2020

Keywords

  • FMR1 gene
  • FMRP protein
  • Fragile X syndrome
  • Gen FMR1
  • Proteína FMRP
  • Síndrome X frágil

ASJC Scopus subject areas

  • Medicine(all)

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