Associated features in females with an 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 Hagerman

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

106 Scopus citations


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
Issue number1
StatePublished - Jan 30 2014


  • FMR1 premutation
  • fragile X
  • health risks

ASJC Scopus subject areas

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


Dive into the research topics of 'Associated features in females with an FMR1 premutation'. Together they form a unique fingerprint.

Cite this