Associated features in females with an FMR1 premutation FMR1 premutation

Anne C. Wheeler, Donald B. Bailey, Elizabeth Berry-Kravis, Jan Greenberg, Molly Losh, Marsha Mailick, Montserrat Milà, John M Olichney, Laia Rodriguez-Revenga, Stephanie Sherman, Leann Smith, Scott Summers, Jin Chen Yang, Randi J Hagerman

Research output: Contribution to journalReview article

70 Scopus citations

Abstract

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.

Original languageEnglish (US)
Article number78
JournalJournal of Neurodevelopmental Disorders
Volume6
Issue number1
DOIs
StatePublished - Jan 30 2014

Keywords

  • FMR1 premutation
  • fragile X
  • health risks

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Cognitive Neuroscience
  • Pediatrics, Perinatology, and Child Health

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    Wheeler, A. C., Bailey, D. B., Berry-Kravis, E., Greenberg, J., Losh, M., Mailick, M., Milà, M., Olichney, J. M., Rodriguez-Revenga, L., Sherman, S., Smith, L., Summers, S., Yang, J. C., & Hagerman, R. J. (2014). Associated features in females with an FMR1 premutation FMR1 premutation. Journal of Neurodevelopmental Disorders, 6(1), [78]. https://doi.org/10.1186/1866-1955-6-30