Journal
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
Volume 6, Issue -, Pages -Publisher
BMC
DOI: 10.1186/1866-1955-6-30
Keywords
fragile X; FMR1 premutation; health risks
Categories
Funding
- Centers for Disease Control and Prevention (CDC)
- National Center on Birth Defects and Developmental Disabilities (NCBDDD) [U01DD000231]
- National Institute of Child Health and Human Development Fragile X Center [P30-HD003110-40S]
- National Institute of Mental Health [1R01MH091131-01A1]
- FEDER
- Fondo Investigacion Sanitaria [PI12/00897]
- National Institute on Aging [R01 AG18442]
- National Institutes of Health [R01HD036071, R01AG032115, UL1DE019583, R01AG03119]
- National Center for Research Resources [UL1RR024116]
- National Fragile X Foundation
- Emory's Genetics Discovery Fund
- [RTOI 2010-999-01]
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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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