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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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“Fragile X syndrome is one of the most common causes of genetic intellectual disability, affecting approximately one in every 1000–1500 males and one in every 2000–2500 females, with symptoms ranging from mild to severe intellectual disabilities [52].”
Christofolini, D. M., Lipay, M. V. N., de Ramos, M. A. P., da Costa, S. S., Bellucco, F. T. D. S., Belangero, S. I., Kulikowski, L. D., Brunoni, D., & Melaragno, M. I. (2007) · Genetics and Molecular Biology · doi:10.1590/s1415-47572007000600002 · Cited by 3
“Fragile X syndrome is the most frequent cause of inherited mental retardation, with a prevalence of 1:4000 to 1:6000 for males and 1:8000 to 1:9000 for females (Crawford et al., 2001).”
BackgroundFragile X Syndrome and Autism Spectrum Disorders
Brown, W. T., & Cohen, I. L. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-391924-3.00030-2 · Cited by 3
Hilvert, E., Hoover, J. R., Sterling, A. M., & Schroeder, S. (2020) · Journal of Speech Language and Hearing Research · doi:10.1044/2019_jslhr-19-00022 · Cited by 3
“FXS is the leading inherited cause of intellectual disability, which affects around one in 2,500–4,000 boys and one in 8,000 girls (Crawford et al., 2001; Fernandez-Carvajal et al., 2009).”
BackgroundPrevalence of fragile X syndrome in South Asia, and importance of diagnosis
Fazna, A., & Hagerman, R. J. (2024) · Medical Review · doi:10.1515/mr-2024-0060 · Cited by 4
“For instance, the Netherlands has a general population prevalence of 1 in 6,045, whereas the United Kingdom exhibits a range from 1 in 1,818 to 1 in 3,553, depending on the study [21].”
Adaptive Functioning Development in Infants With Agenesis of the Corpus Callosum
Haisley, L. D., Hantzsch, L., Glick, A., Turner, J., Sung, S., Swanson, M. R., Wolff, J. J., Burrows, C. A., Botteron, K. N., Dager, S. R., et al. (2025) · PEDIATRICS · doi:10.1542/peds.2024-066555 · Cited by 3
Screening of rural children in West Bengal for fragile-X syndrome.
Dutta, S., Das, M., Bhowmik, A. D., Sinha, S., Chattopadhyay, A., & Mukhopadhyay, K. (2009) · PubMed · Cited by 3
Gametogenesis and Conception, Pregnancy Loss and Infertility
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0023 · Cited by 3
Lumaka, A. Z., Lubala, T. K., Race, V., Peeters, H., Lukusa-Tshilobo, P., & Devriendt, K. (2018) · Journal of Community Genetics · doi:10.1007/s12687-018-0374-4 · Cited by 3
“A variable prevalence is observed in different geographical parts of the world, but prevalence also depends on the clinical characteristics of the tested group, gender, and sampling strategy (Crawford et al. 2001).”
BackgroundA Description of the Educational Setting Among Individuals With Fragile X Syndrome
Nash, R., Riley, C. M., Paramsothy, P., Gilbertson, K. E., Raspa, M., Wheeler, A., Dziuban, E. J., & Peacock, G. (2019) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-124.1.57 · Cited by 3
Fragile X-associated disorders: Don't miss them.
Birch, R. C., Cohen, J., & Trollor, J. N. (2017) · PubMed · Cited by 3
Basics of Developmental Disorders of Speech and Language
Zehnhoff‐Dinnesen, A. A., Denk‐Linnert, D., Hegazi, M. A. E.-F., Keilmann, A., Kiese-Himmel, C., Neumann, K., Regele, S., Schönweiler, R., & Seemanová, E. (2019) · European manual of medicine · doi:10.1007/978-3-662-46780-0_9 · Cited by 5
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0007 · Cited by 3
Beyond Moco Biosynthesis―Moonlighting Roles of MoaE and MOCS2
Suganuma, T. (2022) · Molecules · doi:10.3390/molecules27123733 · Cited by 3
“FXDs are characterized by inherited intellectual disability or cognitive disfunction [63].”
BackgroundApplication of CRISPR/Cas9 system for developing and studying cellular models of inherited disease
Valetdinova, K. R. (2016) · Genes and Cells · doi:10.23868/gc120555 · Cited by 3
Toward Personalized Cell Therapies by Using Stem Cells
Isobe, K.-I., Cheung, H. S., & Wu, J. (2012) · BioMed Research International · doi:10.1155/2012/172564 · Cited by 3
Assessing Autism Co-Occurrence in Fragile X Syndrome: Proposing a Preliminary CARS-2 Cut-Off Score
Chavers, T. N., Elmquist, M., Schabes, C., Mohammed, L., Banasik, A., & Sterling, A. M. (2025) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-025-06888-8 · Cited by 2
“Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability (Crawford et al., 2001; Verkerk et al., 1991).”
Decreased FMR1 mRNA levels found in men with substance use disorders
Krasteva, M. E., Koycheva, Y., Racheva, R., Taseva, T., Raycheva, T., Simeonova, S., & Andreev, B. (2020) · Heliyon · doi:10.1016/j.heliyon.2020.e05270 · Cited by 2
“In FXS, an expansion of more than 200 CGG trinucleotide repeats in the 50UTR regions of FMR1, named “full mutation”, was found accompanied by abnormal CpG methylation and repressive histone ober 2020 he CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). modifications.”
BackgroundInfluentialGlobal developmental delay and intellectual disability
Srour, M., AlHakeem, A., & Shevell, M. I. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-813955-4.00019-2 · Cited by 2
Ellis, K., Pearson, E., Murray, C. A., Jenner, L., Bissell, S., Trower, H., Smith, K., Groves, L., Jones, B., Williams, N. J., et al. (2023) · International review of research in developmental disabilities · doi:10.1016/bs.irrdd.2023.07.003 · Cited by 2
Luermans, J., Fleming, J., O’Shea, R., Barlow-Stewart, K. K., Palmer, E. E., & Leffler, M. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63470 · Cited by 2
Characterising the social interaction style of autism in young adult males with fragile X syndrome
Moser, C., Campanelli, A., Friedman, L., Thurman, A. J., Roberts, J. E., Abbeduto, L., & Klusek, J. (2024) · Journal of Intellectual Disability Research · doi:10.1111/jir.13121 · Cited by 3
Case Reports of Aortic Aneurism in Fragile X Syndrome
Lewis, S., DePass, A., Hagerman, R. J., & Lozano, R. (2022) · Genes · doi:10.3390/genes13091560 · Cited by 2
“Fragile X syndrome (FXS) is the leading cause of inherited intellectual developmental disability (IDD) and autism spectrum disorder (ASD) [1,2].”
BackgroundFragile X—A Family of Disorders: Changing Phenotype and Molecular Genetics
Spector, E. (2012) · Springer eBooks · doi:10.1007/978-1-4419-1688-4_19 · Cited by 2
Molecular Screening of Fragile X Syndrome in Children with Mental Retardation in Hualien
Yen, J.-H., Chen, W.-C., Tzeng, C., Fang, J., & Chu, S. (2008) · Tzu Chi Medical Journal · doi:10.1016/s1016-3190(08)60056-7 · Cited by 2
“In Caucasian populations, approximately 2–6% of males and 2–4% of females with nonspecific retardation carry the full fragile X mutation [13,14].”
Background
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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