Fragile X spectrum disorders
Open accessAbstract
The fragile X mental retardation 1 gene (FMR1), which codes for the fragile X mental retardation 1 protein (FMRP), is located at Xp27.3. The normal allele of the FMR1 gene typically has 5 to 40 CGG repeats in the 5' untranslated region; abnormal alleles of dynamic mutations include the full mutation (> 200 CGG repeats), premutation (55-200 CGG repeats) and the gray zone mutation (45-54 CGG repeats). Premutation carriers are common in the general population with approximately 1 in 130-250 females and 1 in 250-810 males, whereas the full mutation and Fragile X syndrome (FXS) occur in approximately 1 in 4000 to 1 in 7000. FMR1 mutations account for a variety of phenotypes including the most common monogenetic cause of inherited intellectual disability (ID) and autism (FXS), the most common genetic form of ovarian failure, the fragile X-associated primary ovarian insufficiency (FXPOI, premutation); and fragile X-associated tremor/ataxia syndrome (FXTAS, premutation). The premutation can also cause developmental problems including ASD and ADHD especially in boys and psychopathology including anxiety and depression in children and adults. Some premutation carriers can have a deficit of FMRP and some unmethylated full mutation individuals can have elevated FMR1 mRNA that is considered a premutation problem. Therefore the term "Fragile X Spectrum Disorder" (FXSD) should be used to include the wide range of overlapping phenotypes observed in affected individuals with FMR1 mutations. In this review we focus on the phenotypes and genotypes of children with FXSD.
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Fragile X syndrome is caused by mutations of FMR1 and is associated with intellectual disability and a variety of psychiatric symptoms.
“Fragile X syndrome is caused by mutations of FMR1 and is associated with intellectual disability and a variety of psychiatric symptoms [10].”
The white matter changes in the Cyfip1 rat model are consistent with reports in mouse models and 15q11.2(BP1-2)del CNV carriers.
“a finding consistent with reports in mouse models [10] and 15q11.2(BP1–2)del copy number variation (CNV) carriers [12].”
From Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility (2024) · cites this paper as [10]
The Neurobiology sections (2.6 and 3.4; page not provided) discuss FMR1 mouse models, dendritic development, and synaptic changes, but not the claimed white-matter findings. Searches for white matter, Cyfip1, and 15q11.2(BP1–BP2) deletion carriers found no passage in our copy reporting the comparison. (LLM, conf=0.77)
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Self-citationTemporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation
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Selective executive markers of at-risk profiles associated with the fragile X premutation
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Self-citationFXTAS in an unmethylated mosaic male with fragile X syndrome from Chile
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Self-citationFMR1 gray‐zone alleles: Association with Parkinson's disease in women?
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Intranuclear inclusions in a fragile X mosaic male
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Self-citationVisual motion processing deficits in infants with the fragile X premutation
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Self-citationPremature ovarian failure and fragile X female premutation carriers
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A quantitative homogeneous assay for fragile X mental retardation 1 protein
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The marker Xq28 syndrome ("Fragile-X SYndrome") in a retarded man with mitral valve prolapse.
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A new insight into fragile X syndrome among Basque population
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Self-citationTargeted treatments in fragile X syndrome
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Self-citationRAN Translation: Fragile X in the Running
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Altered Neuronal and Circuit Excitability in Fragile X Syndrome
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Hashemi, E., Ariza, J., Rogers, H., Noctor, S. C., & Martínez-Cerdeño, V. (2016) · Cerebral Cortex · doi:10.1093/cercor/bhw021 · Cited by 322 · see citing works
An update on the comorbidity of ADHD and ASD: a focus on clinical management
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Human Models Are Needed for Studying Human Neurodevelopmental Disorders
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Fragile X targeted pharmacotherapy: lessons learned and future directions
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Premature ovarian failure and tissue engineering
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Fragile X syndrome: A review of clinical management
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Self-citationAutism Symptoms in Fragile X Syndrome
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Self-citationFragile X mental retardation protein controls ion channel expression and activity
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“Previous research has reported changes to white matter in the low dosage Cy fi p1 rat model, most prominently in corpus callosum [11], a fi nding consistent with reports in mouse models [10] and 15q11.”
BackgroundMethodHyper-extralemniscal model of Fragile X syndrome
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- Authors
- Lozano, R., Rosero, C. A., & Hagerman, R. J.
- Affiliations
- University of California Davis Medical Center (US)
- Instituto Colombiano del Sistema Nervioso - Clínica Montserrat (CO)
- Venue
- Intractable & Rare Diseases Research
- Publisher
- International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)
- Published
- 2014
- Volume
- 3
- Issue
- 4
- Pages
- 134-146
- ISSN
- 2186-361X (ISSN-L)
- 2186-3644
- PMC
- PMC4298643
- OpenAlex
- W2028943546
- Cited by
- 186
- References
- 160
- Citations by year
- 2026: 9 · 2025: 12 · 2024: 16 · 2023: 12 · 2022: 10 · 2021: 18 · 2020: 13 · 2019: 20 · 2018: 22 · 2017: 17 · 2016: 27 · 2015: 9
- FWCI
- 2.34
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Intractable & Rare Diseases Research (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institutes of Health
- National Institute on Aging (P30AG043097, HD036071)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD036071)
- 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, FMRP, CGG repeat expansion, premutation, full mutation, intellectual disability, autism spectrum disorder, fragile X-associated primary ovarian insufficiency, fragile X-associated tremor/ataxia syndrome, FMR1 mRNA, genotype-phenotype correlation, children
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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