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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 (FXS) is the most common heritable form of humanmental retardation affecting approximately 1 in 4,000 males and 1 in 6,000 females and is the most common known cause of autism or “autistic‐like” behaviors [Crawford et al., 2001].”
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“It is an X-linked dominant disease with incomplete penetrance, affecting approximately 1/3717 to 1/8918 Caucasianmales [2].”
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“The FMR1 gene encodes the Fragile X mental retardation protein (FMRP), which is required for normal neural development (Crawford et al., 2001, Antar et al., 2004).”
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“Fragile X Syndrome FXS is the leading inherited cause of intellectual disability (Crawford et al. 2001) and results from an expansion of the cytosine-guanine-guanine (CGG) sequence of nucleotides within the FMR1 gene on the X chromosome to more than 200 repeats (Oostra and Willemson 2003).”
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“It is caused by a trinucleotide expansion (CGG) of greater than 200 CGG repeats in the 5′ untranslated region of the fragile X mental retardation 1 gene (FMR1) located on the X chromosome and occurs in approximately 1 per 4000 males and 1 in 8000 females [1].”
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“This leads to a prevalence of the FXS in males of about 1 in 4,000 and, in females, about 1 in 8,000 (Coffee et al. 2009; Crawford et al. 2001; 2002; P. J. Hagerman 2008; Turner et al. 1996).”
BackgroundSelf-citationDevelopment and validation of a multiplex-PCR assay for X-linked intellectual disability
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“The absence of genotype/phenotype correlation in the ARX gene explains our inability to establish the respective guidelines for molecular screening particularly in XLID patients that do not include brain malformations.”
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“It is themost prevalent form of inherited intellectual disability and is commonly associated with autism (Crawford et al., 2001; Hersh et al., 2011).”
BackgroundGenetic and Environmental Influences on Intellectual Disability in Childhood
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Benjamin, D. P., McDuffie, A. S., Thurman, A. J., Kover, S. T., Mastergeorge, A. M., Hagerman, R. J., & Abbeduto, L. (2015) · Journal of Speech Language and Hearing Research · doi:10.1044/2015_jslhr-l-14-0136 · Cited by 13
Illingworth, J. L., Watson, P., & RING, H. A. (2014) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2014.08.016 · Cited by 10
“Fragile X syndrome, the most commonly inherited form of intellectual disability, affects males more severely than females and is characterized by mild to profound ID, hyperactivity, behavioral stereotypies, perseverative language, social anxiety, and a number of distinctive physical features [24].”
Behavioral effects of chronic stress in the Fmr1 mouse model for fragile X syndrome
Lemaire, V., Subashi, E., Henkous, N., Béracochéa, D., & Pietropaolo, S. (2016) · Behavioural Brain Research · doi:10.1016/j.bbr.2016.11.051 · Cited by 12
Behavioral Markers of Emergent Stranger Anxiety in Infants and Toddlers with Fragile X Syndrome
Tonnsen, B. L., Scherr, J., Reisinger, D. L., & Roberts, J. E. (2017) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-017-3270-6 · Cited by 12
Manor, E., Gonen, R., Sarussi, B., Keidar-Friedman, D., Kumar, J., Tang, H., & Tassone, F. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.946 · Cited by 9
Hilvert, E., & Sterling, A. M. (2019) · International review of research in developmental disabilities · doi:10.1016/bs.irrdd.2019.07.003 · Cited by 10
Medishetti, R., Rani, R., Kavati, S., Mahilkar, A., Akella, V., Saxena, U., Kulkarni, P., & Sevilimedu, A. (2019) · Journal of Pharmacological and Toxicological Methods · doi:10.1016/j.vascn.2019.106656 · Cited by 9
Pediatric Applications of fMRI
Altman, N. R., & Bernal, B. (2011) · Springer eBooks · doi:10.1007/978-1-4419-0345-7_28 · Cited by 10
Falbo, V., Floridia, G., Tosto, F., Censi, F., Salvatore, M., Ravani, A., Ferlini, A., Melis, M. A., Grasso, M., Bricarelli, F. D., et al. (2008) · Genetic Testing · doi:10.1089/gte.2007.0099 · Cited by 10
“The incidence is estimated to be 1 in 4000–9000malesand 1in7000–15,000 females(Crawford et al ., 2001).”
Association between macroorchidism and intelligence in FMR1 premutation carriers
Lozano, R., Summers, S. M., Lozano, C. B., Mu, Y., Hessl, D. R., Nguyen, D. V., Tassone, F., & Hagerman, R. J. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36624 · Cited by 10
“The prevalence of the full mutation is approximately 1 in 4,000males and1 in8,000 females [Crawford et al., 2001;Coffee et al., 2009].”
BackgroundMARÍA, L. S., Aliaga, S., Faùndes, V., Morales, P., Pugin, A., Curotto, B., Soto, P., Pena, M., Salas, I., & Alliende, M. A. (2016) · Genetics Research · doi:10.1017/s0016672316000082 · Cited by 11
“The overall frequency detected is relatively higher compared to other ID populations, which show overall ranges in males between 1 and 5 · 2% (Crawford et al. , 2001; Essop & Krause, 2013).”
BackgroundDown Syndrome, Other Full Aneuploidies, and Polyploidy
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0018 · Cited by 10
Curtis, K. M. C., Rodrigueiro, D. A., Rodrigues, V. C., Cicarelli, R. M. B., & Scarel‐Caminaga, R. M. (2012) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2012.0158 · Cited by 10
“…element is polymorphic, varying in general from 5 to 44 repeats in the normal (NL) range, from 45 to 54 repeats in the gray zone, from 55 to 200 repeats in the premutation (PM) range, and over 200 CGG repeats in the full-mutation (FM) range (Crawford et al. , 2001; Hagerman and Hagerman, 2004).”
Loat, C. S., Craig, G. M., Plomin, R. J., & Craig, I. (2006) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2006.00269.x · Cited by 10
“However, the frequency of full mutations in the population is so low (estimates range from around 1/3000 to 1/9000 Caucasian males, see Crawford et al. 2001) that any failure to detect them in this sample would not artificially skew the results to any significant degree.”
BackgroundKlusek, J., Will, E., Moser, C., Hills, K. J., Thurman, A. J., Abbeduto, L., & Roberts, J. E. (2023) · Research on Child and Adolescent Psychopathology · doi:10.1007/s10802-023-01044-1 · Cited by 10
Towards automatic assessment of atypical early motor development?
Ossmy, O., Donati, G., Kaur, A., Sotoodeh, M. S., & Forrester, G. S. (2025) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2025.111311 · Cited by 9
“For example, in Fragile X Syndrome, affecting approximately 1 in 4000 males and 1 in 8000 females, early indicators often include delayed motor milestones and atypical visual attention patterns, detectable through these structured assessments (Crawford et al., 2001).”
Non-coding DNA – a brief review
Anandakumar, S., Arumugam, N., & Shanmughavel, P. (2017) · Journal of Applied Biology & Biotechnology · doi:10.7324/jabb.2017.50507 · Cited by 11
“nucleotides that occur adjacent to each other [70-72] varying in length from 2 – 50 base pairs in length.”
BackgroundFragile X Syndrome in a Female With Homozygous Full-Mutation Alleles of the FMR1 Gene
Vafaeie, F., Alerasool, M., Mojaver, N. K., & Mojarrad, M. (2021) · Cureus · doi:10.7759/cureus.16340 · Cited by 9
“The expansion can be defined as four allelic forms, depending on the number of CGG repeats: normal allele with 6 to 40 repeats, intermediate allele with 41 to 60 repeats, premutation with 61 to 200 repeats, full-mutated allele with more than 200 repeats [2].”
BackgroundSong, C., Leahy, S. N., Rushton, E., & Broadie, K. S. (2022) · Development · doi:10.1242/dev.200045 · Cited by 9
Dündar, M., Uzak, A. S., Erdoğan, M., & Akbarova, Y. Y. (2011) · The EPMA Journal · doi:10.1007/s13167-011-0080-3 · Cited by 9
“Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability, accounting for 40% of all X-linked mental retardation [69].”
BackgroundGazy, I., Miller, C. J., Kim, G.-Y., & Usdin, K. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.00482 · Cited by 9
“Such alleles contain more than 200 repeats and give rise to a third disorder, Fragile X syndrome, the leading cause of inherited intellectual disability and autism spectrum disorder (ASD; Crawford et al., 2001).”
BackgroundGait-level analysis of mouse open field behavior using deep learning-based pose estimationPreprint
Sheppard, K., Gardin, J., Sabnis, G. S., Peer, A., Darrell, M., Deats, S., Geuther, B. Q., Lutz, C. M., & Kumar, V. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.12.29.424780 · Cited by 9
“Mutations in Fmr1, a RNA binding protein that functions as a translational regulator, are associated with Fragile X syndrome, the most commonly inherited form of mental illness in humans [84].”
BackgroundAbbeduto, L., Soriano, L. D. H., Berry‐Kravis, E., Sterling, A. M., Edgin, J. O., Abdelnur, N., Drayton, A., Hoffmann, A., Hamilton, D., Harvey, D. J., et al. (2023) · Scientific Reports · doi:10.1038/s41598-023-36087-3 · Cited by 8
Potter, S. N., Harvey, D. J., Sterling, A. M., & Abbeduto, L. (2024) · Journal of Speech Language and Hearing Research · doi:10.1044/2023_jslhr-23-00517 · Cited by 8
Rivera, S. M. (2017) · Journal of Psychology & Clinical Psychiatry · doi:10.15406/jpcpy.2017.07.00465 · Cited by 8
“3 [1] and is the most common form of inherited intellectual disability [2].”
BackgroundCôté, V., Knoth, I. S., Lalancette, È., Lavergne, J.-A., Côté, L., Major, P., & Lippé, S. (2020) · Journal of Developmental and Physical Disabilities · doi:10.1007/s10882-020-09748-8 · Cited by 8
Abbeduto, L., Klusek, J., Taylor, J. L., Abdelnur, N., Sparapani, N., & Thurman, A. J. (2021) · Brain Sciences · doi:10.3390/brainsci11091179 · Cited by 8
341 Repeats Is Not Enough for Methylation in a New Fragile X Mouse Model
Colvin, S. M., Lea, N., Zhang, Q., Wienisch, M., Kaiser, T., Aida, T., & Feng, G. (2022) · eNeuro · doi:10.1523/eneuro.0142-22.2022 · Cited by 9
“Because of the presence of FMR1 on the X-chromosome, FXS and FXTAS are disproportionately more prevalent in males (Crawford et al., 2001), with nearly all FXS males diagnosed with mild to severe intellectual disability (Hagerman et al.”
BackgroundEffect of Recurrent Otitis Media on Language Profile in Children with Fragile X Syndrome
Badran, H. S., Abulnasr, K. M., & Nasser, S. A. E. H. (2013) · Clinical Medicine Insights Ear Nose and Throat · doi:10.4137/cment.s11157 · Cited by 8
Mutated Human Embryonic Stem Cells for the Study of Human Genetic Disorders
Ben‐Yehudah, A., Malcov, M., Frumkin, T., & Ben‐Yosef, D. (2012) · Methods in molecular biology · doi:10.1007/978-1-61779-794-1_11 · Cited by 8
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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