title: Associated features in females with an FMR1 premutation.
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.
authors.affiliation: 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.
authors.forename: Anne C
authors.initials: AC
authors.lastname: Wheeler
authors.affiliation: RTI International, 3040 Cornwallis Road, Research Triangle Park, NC 27709, USA.
authors.forename: Donald B
authors.initials: DB
authors.lastname: Bailey
authors.affiliation: Rush Medical Center, 1735 West Harrison Street Suite 718, Chicago, IL 60612, USA.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Berry-Kravis
authors.affiliation: Waisman Center, University of Wisconsin, 1500 Highland Avenue, Madison, WI 53705, USA.
authors.forename: Jan
authors.initials: J
authors.lastname: Greenberg
authors.affiliation: Northwestern University, 2240 Campus Drive, Evanston, IL 60208-3507, USA.
authors.forename: Molly
authors.initials: M
authors.lastname: Losh
authors.affiliation: Waisman Center, University of Wisconsin, 1500 Highland Avenue, Madison, WI 53705, USA.
authors.forename: Marsha
authors.initials: M
authors.lastname: Mailick
authors.affiliation: Biochemistry and Molecular Genetics Department, Hospital Clinic, Villarroel 170, 08036 Barcelona, Spain.
authors.forename: Montserrat
authors.initials: M
authors.lastname: Milà
authors.affiliation: 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.
authors.forename: John M
authors.initials: JM
authors.lastname: Olichney
authors.affiliation: Biochemistry and Molecular Genetics Department, Hospital Clinic, Villarroel 170, 08036 Barcelona, Spain.
authors.forename: Laia
authors.initials: L
authors.lastname: Rodriguez-Revenga
authors.affiliation: Emory University, 615 Michael Street, Atlanta, GA 30322, USA.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Sherman
authors.affiliation: Waisman Center, University of Wisconsin, 1500 Highland Avenue, Madison, WI 53705, USA.
authors.forename: Leann
authors.initials: L
authors.lastname: Smith
authors.affiliation: 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.
authors.forename: Scott
authors.initials: S
authors.lastname: Summers
authors.affiliation: 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.
authors.forename: Jin-Chen
authors.initials: JC
authors.lastname: Yang
authors.affiliation: 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.
authors.forename: Randi
authors.initials: R
authors.lastname: Hagerman
keywords: FMR1 premutation; fragile X; health risks
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