Cited by 185Genetics and Neurodevelopmental DisordersGenetic Neurodegenerative DiseasesGenomics and Rare Diseases

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CGG repeat in the FMR1 gene: size matters

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Willemsen, R, Levenga, J, Oostra, BA·2011·Clinical Genetics

DOI 10.1111/j.1399-0004.2011.01723.xPMC PMC3151325

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Abstract

The FMR1 gene contains a CGG repeat present in the 5'-untranslated region which can be unstable upon transmission to the next generation. The repeat is up to 55 CGGs long in the normal population. In patients with fragile X syndrome (FXS), a repeat length exceeding 200 CGGs (full mutation: FM) generally leads to methylation of the repeat and the promoter region, which is accompanied by silencing of the FMR1 gene. The absence of FMR1 protein, FMRP, seen in FM is the cause of the mental retardation in patients with FXS. The premutation (PM) is defined as 55-200 CGGs. Female PM carriers are at risk of developing primary ovarian insufficiency. Elderly PM carriers might develop a progressive neurodegenerative disorder called fragile X-associated tremor/ataxia syndrome (FXTAS). Although arising from the mutations in the same gene, distinct mechanisms lead to FXS (absence of FMRP), FXTAS (toxic RNA gain-of-function) and FXPOI. The pathogenic mechanisms thought to underlie these disorders are discussed. This review gives insight on the implications of all possible repeat length categories seen in fragile X families.

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Authors: Willemsen, R., Levenga, J., & Oostra, B.
Affiliations: Erasmus MC (NL)
ORCID: Willemsen, R
Levenga, J
Venue: Clinical Genetics
Publisher: Wiley
Published: 2011-06-30
Volume: 80
Issue: 3
Pages: 214-225
ISSN: 0009-9163 (ISSN-L)
DOI: 10.1111/j.1399-0004.2011.01723.x
PMC: PMC3151325
OpenAlex: W2122400358
Cited by: 184
References: 114
Citations by year: 2026: 8 · 2025: 11 · 2024: 12 · 2023: 12 · 2022: 7 · 2021: 9 · 2020: 4 · 2019: 12 · 2018: 12 · 2017: 8 · 2016: 16 · 2015: 11 · 2014: 22 · 2013: 20 · 2012: 17
FWCI: 2.08
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: doi.wiley.com/10.1002/tdm_license_1 (tdm, 1524 d)
Locations: Clinical Genetics (publishedVersion)
PubMed (publishedVersion)
EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
Funders: ZonMw (113301069)
National Institute of Neurological Disorders and Stroke (RL1NS062411)
National Institute of Dental and Craniofacial Research (UL1DE019583)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01 HD38038, R01HD038038)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: FMR1 gene, CGG repeat, fragile X syndrome, fragile X premutation, fragile X-associated tremor/ataxia syndrome, repeat length, repeat instability, DNA methylation, FMRP, neurodegeneration, pathophysiological mechanisms
MeSH terms: Aged, Animals, Ataxia, Brain, Disease Models, Animal, Female, Fragile X Syndrome, Genotype, Humans, Neurons, Phenotype, Gene Expression, Primary Ovarian Insufficiency, Mice, Knockout, Trinucleotide Repeats, DNA Methylation, 5' Untranslated Regions, Mice, Fragile X Messenger Ribonucleoprotein 1, Prescription Drugs, Genetic Association Studies

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CGG repeat in the FMR1 gene: size matters

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