The behavioral phenotype of FMR1 mutations

Lia Boyle, Walter E. Kaufmann

    Research output: Contribution to journalArticlepeer-review


    The purpose of this article is to provide an overview of the behavioral phenotype of FMR1 mutations, including fragile X syndrome (FXS) in order to better understand the clinical involvement of individuals affected by mutations in this gene. FXS is associated with a wide range of intellectual and behavioral problems, some relatively mild and others quite severe. FXS is the most common cause of inherited intellectual disability and one of the most prevalent genetic causes of autism spectrum disorder. Learning difficulties, attentional problems, anxiety, aggressive behavior, stereotypies, and mood disorders are also frequent in FXS. Recent studies of children and adults have identified associations between FMR1 premutation and many of the same disorders. We examine the neurobehavioral phenotypes of FXS and FMR1 premutation as they manifest across the lifespan of the individual.

    Original languageEnglish (US)
    Pages (from-to)469-476
    Number of pages8
    JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
    Issue number4
    StatePublished - Nov 2010


    • Autism
    • FMR1
    • Fragile X premutation
    • Fragile X syndrome
    • Intellectual disability
    • Phenotype

    ASJC Scopus subject areas

    • Genetics
    • Genetics(clinical)


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