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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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“FXS is the most frequent inherited single-gene cause of ASD and mental retardation (Crawford et al. 2001) and is characterized by translational silencing of the fragile X mental retardation 1 (fmr1) gene.”
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“FXS is a genetic disorder that often results from the excessive repeat of a trinucleotide CGG at the Xq 27.3 site on the fragile X mental retardation gene 1 (FMR1) (Crawford et al. 2001; Hagerman 2002).”
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“…CGG trinucleotide repeat expansion in the 5-UTR of the FMR1 gene (Verkerk et al 1991), is the most common form of inherited intellectual disability (Folstein and Piven, 1991), and approximately 20% of people with FXS also exhibit ASD-like behaviors (Crawford et al 2001; O’Donnell and Warren 2002).”
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“cated on the X chromosome, FXS occurs more in males (1:4000) than in females (1:6000–8000) [1, 2].”
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Sex chromosomes-linked single-gene disorders involved in human infertility
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“plete penetrance affecting approximately 1/3717 to 1/8918 Caucasian males.(8) The FMR1 gene responsible for this syndrome was identified in 1991 and revealed a novel mutational mechanism at the time: the anomalous expansion of a trinucleotide cytosine, guanine, guanine (CGG) repeat.”
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Fragile X-associated tremor/ataxia syndrome and movements disorders
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Neuroanatomical abnormalities in fragile X syndrome during the adolescent and young adult years
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“Fragile X syndrome (FXS) is the most common known single gene cause of inherited intellectual disability and autism spectrum disorder, affecting approximately 1:4000 males and 1:8000 females (Crawford et al., 2001).”
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“Estimates report that FXS affects approximately 1 in 5000 men and 1 in 9000 women (Crawford et al. 2001).”
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“Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability (Crawford et al. 2001) and is the result of a mutation in the 50untranslated region of the FMR1 gene located on the X chromosome (Brown 2002).”
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“Of these12 mRNAs, ATM, BRCA1, CtIP, and TP53 are involved in maintaining genome stability (1), and FMR1, FXR1, TAF15, and TDP-43 function in stress responses and are associated with neuronal degeneration and disorders (5, 6, 65).”
BackgroundDeveloping a utility index for the Aberrant Behavior Checklist (ABC-C) for fragile X syndrome
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“05 a Due to the method of estimation, the RE [MLE] models do not produce an R-square Health state dimension ABC-C item Variables [1] [2] [3] OLS RE [MLE] Mean OLS”
BackgroundMethodA quantitative homogeneous assay for fragile X mental retardation 1 protein
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“Background With an estimated prevalence of 1 in 4,000, Fragile X syndrome (FXS) is the most prevalent monocausal inherited mental retardation disorder [1].”
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Assessing the Fragile X Syndrome Newborn Screening Landscape
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Effect of AGG Interruptions on FMR1 Maternal Transmissions
Villate, O., Ibarluzea, N., Maortua, H., de la Hoz, A. B., Rodríguez‐Revenga, L., Álvarez, S. I., & Tejada, M. (2020) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2020.00135 · Cited by 23
“The FMR1 gene is the gene responsible for Fragile X Syndrome (FXS) affecting∼1/3,717 to 1/8,918 Caucasian males (Crawford et al., 2001).”
BackgroundFunctional consequences of postnatal interventions in a mouse model of Fragile X syndrome
Rais, M., Lovelace, J. W., Shuai, X. S., Woodard, W., Bishay, S., Estrada, L., Sharma, A. R., Nguy, A. K., Kulinich, A. O., Pirbhoy, P. S., et al. (2021) · Neurobiology of Disease · doi:10.1016/j.nbd.2021.105577 · Cited by 25
Baclofen-associated neurophysiologic target engagement across species in fragile X syndrome
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“Abbreviations ASD: Autism spectrum disorders; EEG: Electroencephalography; FMRP: Fragile X mental retardation protein; FXP: Fragile X protein; FXS: Fragile X syndrome; ITPC: inter-trial phase coherence (phase locking factor); K/X: Ketamine/xylazine; MEA: Multielectrode array; RBAC: Racemic baclofen.”
BackgroundInfluentialMaternal well-being and child behavior in families with fragile X syndrome
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Molecular diagnosis of Fragile X syndrome
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Zhao, C., Yang, L., Xie, S., Zhang, Z., Pan, H., & Gong, G. (2018) · Cerebral Cortex · doi:10.1093/cercor/bhy335 · Cited by 22
“Another candidate gene accounting for the parietal module anomalies is the FMR1 gene that encodes the fragile X mental retardation protein (FMRP) (Crawford et al. 2001).”
BackgroundSibarov, D. A., Tsytsarev, V., Volnova, A. B., Vaganova, A. N., Alves, J. M., Rojas, L. V., Sanabria, P., Ignashchenkova, A., Savage, E. D., & Inyushin, M. Y. (2023) · Frontiers in Neurology · doi:10.3389/fneur.2023.1201104 · Cited by 23
“Fragile X Syndrome (FXS) is one of themost common inherited forms of developmental delay (70).”
BackgroundPhenotypic analysis of multielectrode array EEG biomarkers in developing and adult male Fmr1 KO mice
Jonak, C. R., Assad, S. A., Garcia, T. A., Sandhu, M. S., Rumschlag, J. A., Razak, K. A., & Binder, D. K. (2024) · Neurobiology of Disease · doi:10.1016/j.nbd.2024.106496 · Cited by 23
“In the ASD literature, studies have suggested abnormal lateralization patterns (Escalante-Mead et al., 2003; Stroganova et al., 2007).”
InfluentialAltered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence
Klusek, J., Schmidt, J., Fairchild, A. J., Porter, A. M., & Roberts, J. E. (2017) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-017-9211-z · Cited by 22
“The premutation occurs when the CGG element on the 5′ untranslated region of the FMR1 expands within the range of 55–200 repeats [2].”
BackgroundDai, Y., Chiu, L., Sui, Y., Dai, Q., Penumutchu, S. R., Jain, N., Dai, L., Zorman, C. A., Tolbert, B. S., Sankaran, R. M., et al. (2018) · Talanta · doi:10.1016/j.talanta.2018.11.021 · Cited by 22
Phenobarbital use and neurological problems in FMR1 premutation carriers
Saldarriaga, W., Lein, P. J., González-Teshima, L. Y., Isaza, C., Rosa, L., Polyak, A., Hagerman, R. J., Girirajan, S., Silva, M., & Tassone, F. (2016) · NeuroToxicology · doi:10.1016/j.neuro.2016.01.008 · Cited by 21
“(Crawford et al., 2001), and is the most common inherited form of intellectual disability and autism spectrum disorder (ASD) (Hagerman, 2008).”
Golovin, R. M., Vest, J., & Broadie, K. S. (2021) · Journal of Neuroscience · doi:10.1523/jneurosci.2167-20.2020 · Cited by 25
“This leading monogenic cause of both intellectual disability and autism spectrum disorder is characterized by hypersensitivity to sensory stimuli and childhood activity-dependent seizures (Crawford et al., 2001; Hersh et al., 2011; Contractor et al., 2015).”
BackgroundGaboxadol in Fragile X Syndrome: A 12-Week Randomized, Double-Blind, Parallel-Group, Phase 2a Study
Budimirovic, D. B., Dominick, K. C., Gabis, L. V., Adams, M., Adera, M., Huang, L., Ventola, P. E., Tartaglia, N. R., & Berry‐Kravis, E. (2021) · Frontiers in Pharmacology · doi:10.3389/fphar.2021.757825 · Cited by 21
“Individuals with FXS can present with a range of neurobehavioral impairments including, but not limited to: cognitive, language, and adaptive deficits; ASD; anxiety; social withdrawal and avoidance; and aggression.”
BackgroundInfluentialBiobehavioral Indicators of Social Fear in Young Children With Fragile X Syndrome
Tonnsen, B. L., Shinkareva, S. V., Deal, S., Hatton, D. D., & Roberts, J. E. (2013) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-118.6.447 · Cited by 23
Crawford, H., Moss, J. F., Anderson, G. M., Oliver, C., & McCleery, J. P. (2015) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-120.4.328 · Cited by 24
Specific effect of the fragile-X mental retardation-1 gene (FMR1) on white matter microstructure
Green, T., Barnea‐Goraly, N., Raman, M. M., Hall, S. S., Lightbody, A. A., Bruno, J. L., Quintin, E., & Reiss, A. L. (2015) · The British Journal of Psychiatry · doi:10.1192/bjp.bp.114.151654 · Cited by 21
Rote Numeric Skills May Mask Underlying Mathematical Disabilities in Girls With Fragile X Syndrome
Murphy, M. M., & Mazzocco, M. M. M. (2008) · Developmental Neuropsychology · doi:10.1080/87565640801982429 · Cited by 21
“It is commonly associated with mental retardation (MR; Crawford, Acuna, & Sherman, 2001 ), especially among males with the syndrome (Bailey, Hatton, & Skinner, 1998).”
BackgroundObtaining Consent from Both Parents for Pediatric Research: What Does “Reasonably Available” Mean?
Nelson, D. K., Skinner, D., Guarda, S., Choudhury, S., Sideris, J. H., Barnum, L., Haagen, K. T., Heyward, Q. D., & Bailey, D. B. (2012) · PEDIATRICS · doi:10.1542/peds.2012-1278 · Cited by 21
Unfolding of higher DNA structures formed by the d(CGG) triplet repeat by UP1 protein
Fukuda, H., Katahira, M., Tanaka, E., Enokizono, Y., Tsuchiya, N., Higuchi, K., Nagao, M., & Nakagama, H. (2005) · Genes to Cells · doi:10.1111/j.1365-2443.2005.00896.x · Cited by 21
Genetic Syndromes Associated with Intellectual Disabilities
Abbeduto, L., & McDuffie, A. S. (2010) · Springer eBooks · doi:10.1007/978-1-4419-1364-7_11 · Cited by 21
Wang, Z., Qiao, D., Chen, H., Zhang, S., Zhang, B., Zhang, J., Hu, X., Wang, C., Cui, H., Wang, X., et al. (2023) · Neuroscience · doi:10.1016/j.neuroscience.2023.10.001 · Cited by 20
Genetics and mathematics: FMR1 premutation female carriers
Semenza, C., Bonollo, S., Polli, R., Busana, C., Pignatti, R., Iuculano, T., Laverda, A. M., Priftis, K., & Murgia, A. (2012) · Neuropsychologia · doi:10.1016/j.neuropsychologia.2012.10.021 · Cited by 20
Evans, T. L., Blice‐Baum, A. C., & Mihailescu, M. (2011) · Molecular BioSystems · doi:10.1039/c1mb05322a · Cited by 20
RETIRED: Fragile X Testing in Obstetrics and Gynaecology in Canada
Chitayat, D. A., WYATT, P. R., Wilson, R. D., Johnson, J.-A., Audibert, F., Allen, V. M., Gagnon, A. L., Langlois, S. F., Blight, C., Brock, J., et al. (2008) · Journal of Obstetrics and Gynaecology Canada · doi:10.1016/s1701-2163(16)32949-8 · Cited by 20
McAninch, D. S., Heinaman, A. M., Lang, C. N., Moss, K. R., Bassell, G. J., Mihailescu, M., & Evans, T. L. (2017) · Molecular BioSystems · doi:10.1039/c7mb00070g · Cited by 19
Utility of Family History Reports of Major Birth Defects as a Public Health Strategy
Romitti, P. A. (2007) · PEDIATRICS · doi:10.1542/peds.2007-1010f · Cited by 20
Russo, A., & DiAntonio, A. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.08.001 · Cited by 25
“Fragile X syndrome (FXS) is themost commonly inherited form of intellectual disability and is a leading cause of autism spectrum disorders (Bassell and Warren, 2008; Crawford et al., 2001).”
BackgroundPortes, V. D. (2013) · Handbook of clinical neurology · doi:10.1016/b978-0-444-52891-9.00035-x · Cited by 19
Adams, S. A., Steenblock, K. J., Thibodeau, S. N., & Lindor, N. M. (2008) · Journal of Neurogenetics · doi:10.1080/01677060701686242 · Cited by 19
Fragile X Syndrome: An Update on Developing Treatment Modalities
Healy, A. M., Rush, R., & Ocain, T. D. (2011) · ACS Chemical Neuroscience · doi:10.1021/cn200019z · Cited by 19
Burden of illness among patients with fragile X syndrome (FXS): a Medicaid perspective
Nazareth, T. A., Li, N., Marynchenko, M. B., Zhou, Z., Chopra, P., Signorovitch, J., Wu, E. Q., Ahmed, S., Marvel, J., & Sasané, R. (2015) · Current Medical Research and Opinion · doi:10.1185/03007995.2015.1119678 · Cited by 19
“More specifically, patients were excluded if: (1) they had HMO enrollment; (2) for the comparison group, the matching patient with FXS had HMO enrollment, or; (3) for patients with FXS, all five matched comparison group patients had HMO enrollment.”
BackgroundMethodInfluentialNoncoding RNAs in mental retardation
Szulwach, K. E., Jin, P., & Alisch, R. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2008.01134.x · Cited by 19
“Additionally, recombinant humanFMRP is able to act as an acceptor for Dicer-derived miRNAs, and, importantly, endogenous miRNAs themselves are associated with FMRP in both flies and mammals (14, 16, 17, 32).”
BackgroundInfluentialIntermediate FMR1 alleles and cognitive and/or behavioural phenotypes
Madrigal, I., Xunclà, M., Tejada, M., Martı́nez, F., Fernández-Carvajal, I., Jurado, L. A. P., Rodríguez‐Revenga, L., & Milà, M. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.41 · Cited by 19
Auditory Brainstem Responses in Young Males With Fragile X Syndrome
Roberts, J. E., Hennon, E. A., Anderson, K. L., Roush, J., Gravel, J. S., Skinner, M. L., Misenheimer, J., & Reitz, P. S. (2005) · Journal of Speech Language and Hearing Research · doi:10.1044/1092-4388(2005/034 · Cited by 19
Martin, A., Quintin, E., Hall, S. S., & Reiss, A. L. (2016) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-121.5.448 · Cited by 18
Usher, L. V., DaWalt, L. S., Hong, J., Greenberg, J. S., & Seltzer, M. M. (2020) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-020-04367-w · Cited by 18
DNA repair/replication transcripts are down regulated in patients with Fragile X Syndrome
Xu, H., Reynoso, M. A. R., Barros‐Núñez, P., & Peprah, E. K. (2013) · BMC Research Notes · doi:10.1186/1756-0500-6-90 · Cited by 17
“Commons Attribution License (http://creativec reproduction in any medium, provided the or variants containing 6–40 repeats; intermediate variants, sometimes termed gray zone alleles, containing 41–54 repeats; premutation variants containing 55–199 repeats; and the full mutation variants, containing >200 repeats [1].”
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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