Cited by 711Genetics and Neurodevelopmental DisordersGenetic Neurodegenerative DiseasesDown syndrome and intellectual disability research

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FMR1 and the fragile X syndrome: Human genome epidemiology review

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Crawford, Dana C., Acuña, Juan M., Sherman, Stephanie L.·2001·Genetics in Medicine

DOI 10.1097/00125817-200109000-00006PMC PMC4493892

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Abstract

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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Statistical Methods for Rates and Proportions
Fleiss, J. L., Levin, B., & Paik, M. C. (2003) · Wiley Series in Probability and Statistics · doi:10.1002/0471445428 · Cited by 18,646
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90283-5 · Cited by 2,080
Absence of expression of the FMR-1 gene in fragile X syndrome
Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476
The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
Devys, D., Lutz, Y., Rouyer, N., Bellocq, J., & Mandel, J. (1993) · Nature Genetics · doi:10.1038/ng0893-335 · Cited by 781
Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome
Tassone, F., Hagerman, R. J., Taylor, A. K., Gane, L. W., Godfrey, T. E., & Hagerman, P. J. (2000) · The American Journal of Human Genetics · doi:10.1086/302720 · Cited by 779
DNA methylation represses FMR-1 transcription in fragile X syndrome
Sutcliffe, J. S., Nelson, D. L., Zhang, F., Pieretti, M., Caskey, C. T., Saxe, D., & Warren, S. T. (1992) · Human Molecular Genetics · doi:10.1093/hmg/1.6.397 · Cited by 680
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein.
Siomi, H., Siomi, M. C., Nussbaum, R. L., & Dreyfuss, G. (1993) · Cell · doi:10.1016/0092-8674(93)90420-u · Cited by 641
Evidence that fragile X mental retardation protein is a negative regulator of translation
Laggerbauer, B. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.4.329 · Cited by 571
Fragile X mental retardation protein: Nucleocytoplasmic shuttling and association with somatodendritic ribosomes.
Feng, Y., Gutekunst, C.-A., Eberhart, D. E., Yi, H., Warren, S. T., & Hersch, S. M. (1997) · The Journal of Neuroscience · doi:10.1523/jneurosci.17-05-01539.1997 · Cited by 532

Show all 153 references

Research works printed but not linked: 3

Hagerman, 1996, Physical and behavioral phenotype, Fragile X syndrome: diagnosis, treatment, and research, 3
Howard-Peebles, 1995, Fragile X screening in pediatric and obstetrical patients, Dev Brain Dysfunct, 8, 408
Holden, 1995, Distribution and frequency of FMR1 CGG repeat numbers in the general population, Dev Brain Dysfunct, 8, 405

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Insertions
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Appendix C
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1. Introduction
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Preface to Fourth Edition
(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0007
Copyright Page
(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0004
Dedication
(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0005
Preface to The First Edition
(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0008
Cytogenetic Abbreviations and Nomenclature
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.005.0272
Ideograms of Human Chromosomes, and Haploid Autosomal Lengths
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.005.0271
Determining 95 Percent Confidence Limits, and the Standard Error
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.005.0273
Epigraph
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Additional file 1 of Baclofen-associated neurophysiologic target engagement across species in fragile X syndrome
Jonak, C. R., Pedapati, E. V., Schmitt, L. M., Assad, S. A., Sandhu, M. S., DeStefano, L. A., Ethridge, L. E., Razak, K. A., Sweeney, J. A., Binder, D. K., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21220105
Additional file 1 of Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity
Abbeduto, L., Berry‐Kravis, E., Sterling, A. M., Sherman, S., Edgin, J. O., McDuffie, A. S., Hoffmann, A., Hamilton, D., Nelson, M., Aschkenasy, J. R., et al. (2020) · Figshare · doi:10.6084/m9.figshare.12023523
Self-citation
Additional file 2 of Baclofen-associated neurophysiologic target engagement across species in fragile X syndrome
Jonak, C. R., Pedapati, E. V., Schmitt, L. M., Assad, S. A., Sandhu, M. S., DeStefano, L. A., Ethridge, L. E., Razak, K. A., Sweeney, J. A., Binder, D. K., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21220108
Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS
Berglund, S., Hashim, F., Laffita‐Mesa, J. M., Malmgren, H., Anderlid, B., Granberg, T., Sjöström, H., Svenningsson, P., & Paucar, M. (2026) · The Cerebellum · doi:10.1007/s12311-026-01968-6
“The prevalence of FMR1 PMC and in the general population is estimated to be 1 in 178 females and 1 in 400 males in the US [26 , 27 ].”
Expressive Language Sample Concordance With ADOS-2 Scores: Autism, Down Syndrome, Fragile X Syndrome
Barton, H., Kover, S. T., Thurman, A. J., Finestack, L. H., Sterling, A. M., Berry‐Kravis, E., Edgin, J. O., Fombonne, E. J., MacFarlane, H., & Abbeduto, L. (2026) · American Journal on Intellectual and Developmental Disabilities · doi:10.1080/19447558.2026.2616202
Etude de gènes candidats de la région 17Q11.2 dans l'autisme et la déficience mentale
Tabagh, R. M. (2008) · theses.fr (ABES) · doi:10.70675/1b75ac3ezc71ez46f2zaa51z78f3b173c852
Recherche de nouvelles protéines humaines se liant à l'ADN méthylé
Joulie, M. (2011) · theses.fr (ABES) · doi:10.70675/b7745f08z7318z4dabz948bz462ab663bc37
Etudes des variations structurales chromosomiques dans l'autisme et la déficience mentale
Marouillat, S. (2011) · theses.fr (ABES) · doi:10.70675/61c503abz73b9z4e2eza417z1c6d98894a3b
Gene editing approaches of microsatellite disorders : shortening expanded repeats
Poggi, L. (2020) · theses.fr (ABES) · doi:10.70675/741f0470z28a0z4c3bz9e75ze578bdc49074 · Cited by 1

Authors: Crawford, D. C., Acuña, J. M., & Sherman, S. L.
Affiliations: Centers for Disease Control and Prevention (US)
Emory University (US)
ORCID: Crawford, Dana C.
Sherman, Stephanie L.
Venue: Genetics in Medicine
Publisher: Elsevier BV
Published: 2001-09
Volume: 3
Issue: 5
Pages: 359-371
ISSN: 1098-3600 (ISSN-L)
DOI: 10.1097/00125817-200109000-00006
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: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 7445 d)
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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FMR1 and the fragile X syndrome: Human genome epidemiology review

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