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

Associated features in females with an FMR1 premutation.

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RTI International, 3040 Cornwallis Road, Research Triangle Park, NC 27709, USA ; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
RTI International, 3040 Cornwallis Road, Research Triangle Park, NC 27709, USA.
Rush Medical Center, 1735 West Harrison Street Suite 718, Chicago, IL 60612, USA.
Waisman Center, University of Wisconsin, 1500 Highland Avenue, Madison, WI 53705, USA.
Northwestern University, 2240 Campus Drive, Evanston, IL 60208-3507, USA.
Biochemistry and Molecular Genetics Department, Hospital Clinic, Villarroel 170, 08036 Barcelona, Spain.
Center for Mind and Brain, University of California-Davis, 1 Shields Avenue, Davis, CA 95616, USA ; MIND Institute, University of California Davis, 2825 50th Street, Sacramento, CA 95817, USA.
Emory University, 615 Michael Street, Atlanta, GA 30322, USA.


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.


FMR1 premutation; fragile X; health risks

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