Associated features in females with an FMR1 premutation

• Type of Material: Article
• Authors: Anne C Wheeler, Research Triangle Park; Donald B Bailey Jr, Research Triangle Park; Elizabeth Berry-Kravis, Rush Medical Center; Jan Greenberg, University of Wisconsin; Molly Losh, Northwestern University; Marsha Mailick, University of Wisconsin; Montserrat Milà, Hospital Clinic, Barcelona; John M Olichney, University of California; Laia Rodriguez-Revenga, Hospital Clinic, Barcelona; Stephanie Sherman, Emory University; Leann Smith, University of Wisconsin; Scott Summers, University of California; Jin-Chen Yang, University of California; Randi Hagerman, University of California
• Language: English
• Date: 2014-07-30
• Publisher: BioMed Central
• Publication Version: Final Published Version
• Copyright Statement: © 2014 Wheeler et al.; licensee BioMed Central Ltd.
• License: Creative Commons Creative Commons CC0 1.0 Universal
• Final Published Version (URL): http://www.jneurodevdisorders.com/content/6/1/30
• Title of Journal or Parent Work: Journal of Neurodevelopmental Disorders
• ISSN: 1866-1947
• Volume: 6
• Issue: 1
• Start Page: 30
• Grant/Funding Information: Sherman - National Fragile X Foundation and Emory’s Genetics Discovery Fund.; Hagerman - National Institutes of Health grants R01HD036071, R01AG032115, UL1DE019583, R01AG03119, and a National Center for Research Resources grant UL1RR024116.; Mila and Rodriguez-Revenga - FEDER and Fondo Investigacion Sanitaria PI12/00897; Yang and Olichney - National Institute on Aging grant (R01 AG18442); Losh - National Institute of Mental Health 1R01MH091131-01A1; The following funding sources for specific authors: Wheeler and Bailey - Centers for Disease Control and Prevention (CDC), National Center on Birth Defects and Developmental Disabilities (NCBDDD) under Cooperative Agreement U01DD000231 to the Association of University Centers on Disabilities (AUCD), project RTOI 2010-999-01; and National Institute of Child Health and Human Development Fragile X Center Grant P30-HD003110-40S
• Keywords: health risks; fragile X; FMR1 premutation
• Research Categories: Health Sciences, General

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.