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Author Notes:

Correspondence: Anne C Wheeler; acwheeler@rti.org

Authors' Contributions: AW drafted the introduction and conclusion and organized contributions from all authors.

EBK contributed sections on neuropathy and vestibular issues.

JG, MM, and LS contributed sections on stress responsivity.

ML contributed the language and autism sections.

MM, SSherman, and LRR contributed the reproductive section.

SSummers contributed the psychiatric section.

JO and JCY contributed the cognitive section.

RH contributed to the medical section as well as to the introduction and conclusion.

All authors read and approved the final manuscript.

Disclosures: 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.


Research Funding:

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.


  • fragile X
  • FMR1 premutation
  • health risks

Associated features in females with an FMR1 premutation

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Journal Title:

Journal of Neurodevelopmental Disorders


Volume 6, Number 1


, Pages 30-None

Type of Work:

Article | Final Publisher PDF


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.

Copyright information:

© 2014 Wheeler et al.; licensee BioMed Central Ltd.

This is an Open Access work distributed under the terms of the Creative Commons Universal : Public Domain Dedication License (http://creativecommons.org/publicdomain/zero/1.0/).

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