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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“).(14) The largest of these studies identified 20 males with FXS among 3738 boys in special education classes in the United Kingdom, yielding a general population prevalence of 1 in 5530.”
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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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