Associated features in females with an FMR1 premutation Public Deposited

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Creator
  • Sherman, Stephanie
    • Other Affiliation: Emory University, 615 Michael Street, Atlanta, GA 30322, USA
  • Hagerman, Randi
    • Other 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
  • Greenberg, Jan
    • Other Affiliation: Waisman Center, University of Wisconsin, 1500 Highland Avenue, Madison, WI 53705, USA
  • Milà, Montserrat
    • Other Affiliation: Biochemistry and Molecular Genetics Department, Hospital Clinic, Villarroel 170, 08036 Barcelona, Spain
  • Mailick, Marsha
    • Other Affiliation: Waisman Center, University of Wisconsin, 1500 Highland Avenue, Madison, WI 53705, USA
  • Losh, Molly
    • Other Affiliation: Northwestern University, 2240 Campus Drive, Evanston, IL 60208-3507, USA
  • Olichney, John M
    • Other 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
  • Summers, Scott
    • Other 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
  • Smith, Leann
    • Other Affiliation: Waisman Center, University of Wisconsin, 1500 Highland Avenue, Madison, WI 53705, USA
  • Berry-Kravis, Elizabeth
    • Other Affiliation: Rush Medical Center, 1735 West Harrison Street Suite 718, Chicago, IL 60612, USA
  • Wheeler, Anne
    • Affiliation: School of Medicine, Neurodevelopment Disorders Research Center, Carolina Institute for Developmental Disabilities
    • Other Affiliation: RTI International, 3040 Cornwallis Road, Research Triangle Park, NC 27709, USA
  • Rodriguez-Revenga, Laia
    • Other Affiliation: Biochemistry and Molecular Genetics Department, Hospital Clinic, Villarroel 170, 08036 Barcelona, Spain
  • Bailey, Donald B, Jr
    • Other Affiliation: RTI International, 3040 Cornwallis Road, Research Triangle Park, NC 27709, USA
  • Yang, Jin-Chen
    • Other 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
Abstract
  • 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.
Date of publication
Identifier
  • doi:10.1186/1866-1955-6-30
  • 25097672
Resource type
  • Article
Rights statement
  • In Copyright
Rights holder
  • Anne C Wheeler et al.; licensee BioMed Central Ltd.
License
Journal title
  • Journal of Neurodevelopmental Disorders
Journal volume
  • 6
Journal issue
  • 1
Page start
  • 30
Language
  • English
Is the article or chapter peer-reviewed?
  • Yes
ISSN
  • 1866-1955
Bibliographic citation
  • Journal of Neurodevelopmental Disorders. 2014 Jul 30;6(1):30
Access
  • Open Access
Publisher
  • BioMed Central Ltd
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