The DOI matches its Crossref record; 139 of the 153 references it cites were found in a registry or an index.
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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Statistical Methods for Rates and Proportions
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Absence of expression of the FMR-1 gene in fragile X syndrome
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Items 701–710 of 710
Abbeduto, L., Klusek, J., Taylor, J., & Thurman, A. J. (2026) · Advances in Neurodevelopmental Disorders · doi:10.1007/s41252-026-00488-y
Intergenerational associations in inhibitory control in FMR1 families
Hunt, E. E., Arnold, H. P., Cortez, K. B., & Roberts, J. E. (2026) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2026.1820723
“It affects approximately 1 in 4,000-5,000 males and 1 in 2,500-10,000 females (40, 41), with greater severity of problems seen in males with the condition.”
Chavers, T. N., Schabes, C., Elmquist, M., & Sterling, A. M. (2026) · American Journal of Speech-Language Pathology · doi:10.1044/2026_ajslp-25-00344
Norman, A. O., Scaramella, C., Biezonski, D. K., Hector, R. D., Varallo, A., Sahni, A., Farooq, N., Burstein, S. R., Benito, J., Razak, K. A., et al. (2026) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2026.102981
“32 Previous studies have found a beneficial impact of other abundant human FMRP isoforms (1, 5, and 17) on similar phenotypes in FXS mice as examined in this study.”
Tortora, N. D., Hunter, J. E., Glicksman, A., McGuire, T., Russell‐Giller, S., Kenepp, A., Taveras, S., Seehra, S., Goldman, R., Hinton, V. J., et al. (2026) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2026.1820313
“…(FXS) is the most common inherited form of intellectual disabilities and is the result of a CGG trinucleotide repeat expansion in the 5 ′ untranslated region of the fragile X messenger ribonucleoprotein 1 ( FMR1 ) gene to more than 200 CGG repeats (Rousseau et al., 1995; Crawford et al., 2001).”
Across species identification of genes bridging neurological and reproductive functions in mammals
Kizilaslan, Z., GRAYBEAL, J. T., Huffman, C., Montoya, A. F. M., Peñagaricano, F., Kızılaslan, M., Ahsan, N., & Khatib, H. (2026) · iScience · doi:10.1016/j.isci.2026.117017 · Cited by 1
Assessment of sex-dependent cognitive flexibility in a mouse model of fragile X syndromePreprint
Pirbhoy, P. S., & Steward, O. (2026) · Learning & Memory · doi:10.1101/lm.054216.126
Geysens, M., Souche, E., Baroni, M. C., Benoit, V., Beyltjens, T., Bossuyt, W., Bours, V., Crabbé, M., Croes, D., De Smet, M., et al. (2026) · Genome Medicine · doi:10.1186/s13073-026-01771-2
“GS also enabled diagnosis of one proband with Fragile-X syndrome, one of the most prevalent causes of ID in males [43], which is caused by a tandem repeat expansion in the FMR1 (MIM: 309550) promotor region.”
Jastrzębski, K., Kacperska, M. J., Pietras, T., & Radek, M. (2013) · DOAJ (DOAJ: Directory of Open Access Journals)
Orsmond, G. I., Seltzer, M. M., Krauss, M. W., & Hong, J. (2003) · American Journal on Mental Retardation · doi:10.1352/0895-8017(2003)108
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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