Associated features in females with an FMR1 premutation

Anne C. Wheeler; Donald B. Bailey; Elizabeth Berry-Kravis; Jan Greenberg; Molly Losh; Marsha Mailick; Montserrat Milà; John M. Olichney; Laia Rodriguez-Revenga; Stephanie Sherman; Leann Smith; Scott Summers; Jin Chen Yang; Randi Hagerman

doi:10.1186/1866-1955-6-30

Associated features in females with an FMR1 premutation

Anne C. Wheeler^*, Donald B. Bailey, Elizabeth Berry-Kravis, Jan Greenberg, Molly Losh, Marsha Mailick, Montserrat Milà, John M. Olichney, Laia Rodriguez-Revenga, Stephanie Sherman, Leann Smith, Scott Summers, Jin Chen Yang, Randi Hagerman

^*Corresponding author for this work

Communication Sciences and Disorders

Research output: Contribution to journal › Review article › peer-review

118 Scopus citations

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.

Original language	English (US)
Article number	78
Journal	Journal of neurodevelopmental disorders
Volume	6
Issue number	1
DOIs	https://doi.org/10.1186/1866-1955-6-30
State	Published - Jan 30 2014

Funding

Bailey has received funding from Novartis Pharmaceuticals. Hagerman has received funding from Novartis, Roche, Seaside Therapeutics, Curemark, and Forest for treatment studies in fragile X syndrome or autism. Summers has received funding for research from Seaside Therapeutics, Roche, Novaris, and Marinus Pharmaceuticals. We would like to acknowledge 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 Losh - National Institute of Mental Health 1R01MH091131-01A1 Mila and Rodriguez-Revenga - FEDER and Fondo Investigacion Sanitaria PI12/00897 Yang and Olichney-National Institute on Aging grant (R01 AG18442) Hagerman-National Institutes of Health grants R01HD036071, R01AG032115, UL1DE019583, R01AG03119, and a National Center for Research Resources grant UL1RR024116. Sherman - National Fragile X Foundation and Emory’s Genetics Discovery Fund.

Keywords

FMR1 premutation
fragile X
health risks

ASJC Scopus subject areas

Clinical Neurology
Cognitive Neuroscience
Pediatrics, Perinatology, and Child Health
Pathology and Forensic Medicine

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1186/1866-1955-6-30

Cite this

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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.",

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doi = "10.1186/1866-1955-6-30",

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AU - Mailick, Marsha

AU - Milà, Montserrat

AU - Olichney, John M.

AU - Rodriguez-Revenga, Laia

AU - Sherman, Stephanie

AU - Smith, Leann

AU - Summers, Scott

AU - Yang, Jin Chen

AU - Hagerman, Randi

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Associated features in females with an FMR1 premutation

Abstract

Funding

Keywords

ASJC Scopus subject areas

UN SDGs

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