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Review
. 2014;6(1):30.
doi: 10.1186/1866-1955-6-30. Epub 2014 Jul 30.

Associated features in females with an FMR1 premutation

Anne C Wheeler  1 , Donald B Bailey Jr  2 , Elizabeth Berry-Kravis  3 , Jan Greenberg  4 , Molly Losh  5 , Marsha Mailick  4 , Montserrat Milà  6 , John M Olichney  7 , Laia Rodriguez-Revenga  6 , Stephanie Sherman  8 , Leann Smith  4 , Scott Summers  7 , Jin-Chen Yang  7 , Randi Hagerman  7
Affiliations
Review

Associated features in females with an FMR1 premutation

Anne C Wheeler et al. J Neurodev Disord. 2014.

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.

Keywords: FMR1 premutation; fragile X; health risks.

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