TY - JOUR
T1 - Associated features in females with an FMR1 premutation
AU - Wheeler, Anne C.
AU - Bailey, Donald B.
AU - Berry-Kravis, Elizabeth
AU - Greenberg, Jan
AU - Losh, Molly
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
N1 - Funding Information:
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.
Publisher Copyright:
© 2014 Wheeler et al.; licensee BioMed Central Ltd.
PY - 2014/1/30
Y1 - 2014/1/30
N2 - 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.
AB - 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.
KW - FMR1 premutation
KW - fragile X
KW - health risks
UR - http://www.scopus.com/inward/record.url?scp=84958061358&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84958061358&partnerID=8YFLogxK
U2 - 10.1186/1866-1955-6-30
DO - 10.1186/1866-1955-6-30
M3 - Review article
C2 - 25097672
AN - SCOPUS:84958061358
SN - 1866-1947
VL - 6
JO - Journal of neurodevelopmental disorders
JF - Journal of neurodevelopmental disorders
IS - 1
M1 - 78
ER -
