ArticlePloS one2019
Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
45 citing papers in PubMed, 76 citations in OpenAlex.
- A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX).Journal of neurodevelopmental disorders · 2022Trial
- Profile of Behavioral Comorbidities in Children With Fragile X Syndrome.Journal of autism and developmental disorders · 2026Article
- Article
- Gene Therapy for Fragile X Syndrome, Challenges, and Promises.The journal of gene medicine · 2025Review
- Relationship Between Intellectual Disability and Behavioral Comorbidity in Children With Fragile X Syndrome.Journal of autism and developmental disorders · 2025Article
- Electroretinographic Findings in Fragile X, Premutation, and Controls: A Study of Biomarker Correlations.International journal of molecular sciences · 2025Article
- Beyond the Fragile X protein: neighborhood characteristics explain individual differences in IQ and adaptive behaviors of Fragile X syndrome.Frontiers in psychiatry · 2025Article
- Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.International journal of molecular sciences · 2024Review
- A near normal distribution of IQ in Fragile X Syndrome.Scientific reports · 2024Article
- State-of-the-art therapies for fragile X syndrome.Developmental medicine and child neurology · 2024Review
- Enlarged perivascular spaces and their association with motor, cognition, MRI markers and cerebrovascular risk factors in male fragile X premutation carriers.Journal of the neurological sciences · 2024Article
- FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.The Journal of molecular diagnostics : JMD · 2024Article
- EEG Microstates as Markers for Cognitive Impairments in Fragile X Syndrome.Brain topography · 2024Article
- Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome.Genes · 2024Article
- Review
- Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome.Journal of autism and developmental disorders · 2024Article
- Article
- Adaptive, behavioral, and cognitive outcomes in individuals with fragile X syndrome with varying autism severity.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2023Article
- Diagnostic value of molecular approach in screening for fragile X premutation cases.Irish journal of medical science · 2023Article
- Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome.Cells · 2023Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Fragile X syndrome, the leading heritable form of intellectual disability, is caused by hypermethylation and transcriptional silencing of large (CGG) repeat expansions (> 200 repeats) in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene. As a consequence of FMR1 gene silencing, there is little or no production of FMR1 protein (FMRP), an important element in normal synaptic function. Although the absence of FMRP has long been known to be responsible for the cognitive impairment in fragile X syndrome, the relationship between FMRP level and cognitive ability (IQ) is only imprecisely understood. To address this issue, a high-throughput, fluorescence resonance energy transfer (FRET) assay has been used to quantify FMRP levels in dermal fibroblasts, and the relationship between FMRP and IQ measures was assessed by statistical analysis in a cohort of 184 individuals with CGG-repeat lengths spanning normal (< 45 CGGs) to full mutation (> 200 CGGs) repeat ranges in fibroblasts. The principal findings of the current study are twofold: i) For those with normal CGG repeats, IQ is no longer sensitive to further increases in FMRP above an FMRP threshold of ~70% of the mean FMRP level; below this threshold, IQ decreases steeply with further decreases in FMRP; and ii) For the current cohort, a mean IQ of 85 (lower bound for the normal IQ range) is attained for FMRP levels that are only ~35% of the mean FMRP level among normal CGG-repeat controls. The current results should help guide expectations for efforts to induce FMR1 gene activity and for the levels of cognitive function expected for a given range of FMRP levels.
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Registered trials
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