Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions is now known to exist for individuals with a premutation, although some features have been more thoroughly studied than others. This review highlights the literature on medical, reproductive, cognitive, and psychiatric features, primarily in females, that have been suggested to be associated with changes in the FMR1 gene. Based on this review, each feature is evaluated with regard to the strength of evidence of association with the premutation. Areas of need for additional focused research and possible intervention strategies are suggested
Associated features in females with an FMR1 premutation
Wheeler, A., Bailey, D., Berry-Kravis, E., Greenberg, J., Losh, M., Mailick, M., Mila, M., Olichney, JM., Rodriguez-Revenga, L., Sherman, S., Smith, L., Summers, S., Yang, J-C., & Hagerman, R. (2014). Associated features in females with an FMR1 premutation. Journal of Neurodevelopmental Disorders, 6, . https://doi.org/10.1186/1866-1955-6-30
To contact an RTI author, request a report, or for additional information about publications by our experts, send us your request.
Multifaceted risk for non-suicidal self-injury only versus suicide attempt in a population-based cohort of adults
Community overdose surveillance
Epigenetic biomarkers for smoking cessation