The fragile X family of disorders: A model for autism and targeted treatments

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69 Scopus citations


CGG-repeat expansion mutations of the fragile X mental retardation 1 (FMR1) gene are the leading known cause of autism and autism spectrum disorders (ASD). Full mutation expansions (>200 CGG repeats) of the gene are generally silenced, resulting in absence of the FMR1 protein and fragile X syndrome. By contrast, smaller expansions in the premutation range (55-200 CGG repeats) result in excess gene activity and RNA toxicity, which is responsible for the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), and likely additional cases of developmental delay and autism. Thus, the FAM1 gene is causative of a common (autism) phenotype via two entirely different pathogenic mechanisms, RNA toxicity and gene silencing. The study of this gene and its pathogenic mechanisms therefore represents a paradigm for understanding gene-brain relationships and the means by which diverse genetic mechanisms can give rise to a common behavioral phenotype.

Original languageEnglish (US)
Pages (from-to)40-52
Number of pages13
JournalCurrent Pediatric Reviews
Issue number1
StatePublished - Feb 2008


  • CGG repeat
  • Fragile X mental retardation 1 gene
  • Idiopathic Autism
  • Methyl-CpG binding protein
  • Neuroimaging

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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