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FMR1 and the fragile X syndrome: Human genome epidemiology review
Open accessAbstract
The fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is one of the most common forms of inherited mental retardation. The cognitive, behavioral, and physical phenotype varies by sex, with males being more severely affected because of the X-linked inheritance of the mutation. The disorder-causing mutation is the amplification of a CGG repeat in the 5' untranslated region of FMR1 located at Xq27.3. The fragile X CGG repeat has four forms: common (6-40 repeats), intermediate (41-60 repeats), premutation (61-200 repeats), and full mutation (>200-230 repeats). Population-based studies suggest that the prevalence of the full mutation, the disorder-causing form of the repeat, ranges from 1/3,717 to 1/8,918 Caucasian males in the general population. The full mutation is also found in other racial/ethnic populations; however, few population-based studies exist for these populations. No population-based studies exist for the full mutation in a general female population. In contrast, several large, population-based studies exist for the premutation or carrier form of the disorder, with prevalence estimates ranging from 1/246 to 1/468 Caucasian females in the general population. For Caucasian males, the prevalence of the premutation is approximately 1/1,000. Like the full mutation, little information exists for the premutation in other populations. Although no effective cure or treatment exists for the fragile X syndrome, all persons affected with the syndrome are eligible for early intervention services. The relatively high prevalence of the premutation and full mutation genotypes coupled with technological advances in genetic testing make the fragile X syndrome amenable to screening. The timing as well as benefits and harms associated with the different screening strategies are the subject of current research and discussion.
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“FXS is the most common inherited cause of intellectual disability, occurring in 1 in 4,000 males and 1 in 8,000 females [706]”
From Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings (2012) · cites this paper as [706]
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Anderson, I. J., & Matteson, K. J. (2005) · Seminars in Perinatology · doi:10.1053/j.semperi.2004.12.001
A Fragile Synapse: Changes at the Synapse in Fragile X Syndrome
Webber, A. J., & Christie, B. R. (2006) · Springer eBooks · doi:10.1007/978-0-387-32562-0_31
The development of morphosyntax in fragile X syndrome
Sterling, A. M. (2009) · KU ScholarWorks (The University of Kansas)
Social dysfunction and mental retardation
Pietropaolo, S., Sluyter, F., & Crusio, W. E. (2014) · Cambridge University Press eBooks · doi:10.1017/cbo9781107360556.010
The Contributions of Syndrome Research to the Study of MLD
Mazzocco, M. M. M. (2015) · Oxford University Press eBooks · doi:10.1093/oxfordhb/9780199642342.013.69
Garber, K. B., Visootsak, J., & Warren, S. T. (2008)
HERANÇA LIGADA AO CROMOSSOMO X
Paulo, S. (2013)
Devine, I. M., & Stafstrom, C. E. (2011) · Cambridge University Press eBooks · doi:10.1017/cbo9780511921001.042
Stem Cells to Understand the Pathophysiology of Autism Spectrum Disorders
Passos‐Bueno, M. R., Griesi‐Oliveira, K., Sertie, A. L., & Kobayashi, G. S. (2015) · Stem cell biology and regenerative medicine · doi:10.1007/978-3-319-18314-5_8
Rôle de la protéine FMRP dans la formation et le dynamisme des granules à ARN
Mellaoui, S. (2012) · Corpus Université Laval (Université Laval)
Early Experiences of Prenatal Genetic Counselors with Spinal Muscular Atrophy Carrier Testing
Heine, D., Sanborn, E. M., Sugarman, E. A., & Ziegler, K. L. A. (2010)
Vindas-Smith, R., Cuenca-Berger, P., Pino, F. B., & Castro-Volio, I. (2011) · DOAJ (DOAJ: Directory of Open Access Journals)
Metadata
- Authors
- Crawford, D. C., Acuña, J. M., & Sherman, S. L.
- Affiliations
- Centers for Disease Control and Prevention (US)
- Emory University (US)
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2001-09
- Volume
- 3
- Issue
- 5
- Pages
- 359-371
- ISSN
- 1098-3600 (ISSN-L)
- PMC
- PMC4493892
- OpenAlex
- W2073347350
- Cited by
- 711
- References
- 153
- Citations by year
- 2026: 12 · 2025: 16 · 2024: 17 · 2023: 14 · 2022: 35 · 2021: 24 · 2020: 46 · 2019: 37 · 2018: 32 · 2017: 39 · 2016: 29 · 2015: 28 · 2014: 46 · 2013: 35 · 2012: 38
- FWCI
- 0.95
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (NIH-R01, R01‐grant)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01 HD 29909, R01HD029909)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- fragile X syndrome, FMR1 gene, CGG repeat expansion, premutation, full mutation, X-linked dominant inheritance, prevalence, carrier frequency, intellectual disability, sex differences in phenotype, genetic testing, screening method, early intervention
- MeSH terms
- Female, Fragile X Syndrome, Gene Frequency, Genetic Testing, Heterozygote, Humans, Male, Mutation, Nerve Tissue Proteins, Genome, Human, RNA-Binding Proteins, Trinucleotide Repeats, White People, Fragile X Mental Retardation Protein, Fragile X Messenger Ribonucleoprotein 1
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