ArticleJournal of medical genetics2014
CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.
Article in Journal of medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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Who cites it
57 citing papers in PubMed, 84 citations in OpenAlex.
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- 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
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- The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.Cerebellum (London, England) · 2024Article
- Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome.Genes · 2024Article
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- Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.Science advances · 2023Article
- Structure and Alternative Splicing of the Antisense FMR1 (ASFMR1) Gene.Molecular neurobiology · 2023Article
- Mechanisms of theInternational journal of molecular sciences · 2022Review
- Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.Science advances · 2022Article
- The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.American journal of medical genetics. Part A · 2022Article
- Clinical and Molecular Correlates of Abnormal Changes in the Cerebellum and Globus Pallidus in Fragile X Premutation.Frontiers in neurology · 2022Article
- Altered expression of fragile X mental retardation-1 (FMR1) in the thymus in autoimmune myasthenia gravis.Journal of neuroinflammation · 2021Article
- FMRP Levels in Human Peripheral Blood Leukocytes Correlates with Intellectual Disability.Diagnostics (Basel, Switzerland) · 2021Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundGreater than 200 CGG repeats in the 5'UTR of the FMR1 gene lead to epigenetic silencing and lack of the FMR1 protein, causing fragile X Syndrome. Individual carriers of a premutation (PM) allele with 55-200 CGG repeats are typically unmethylated and can present with clinical features defined as FMR1-associated conditions.
methodsBlood samples from 17 male PM carriers were assessed clinically and molecularly by Southern blot, western blot, PCR and QRT-PCR. Blood and brain tissue from an additional 18 PM males were also similarly examined. Continuous outcomes were modelled using linear regression and binary outcomes were modelled using logistic regression.
resultsMethylated alleles were detected in different fractions of blood cells in all PM cases (n=17). CGG repeat numbers correlated with percent of methylation and mRNA levels and, especially in the upper PM range, with greater number of clinical involvements. Inter-tissue/intra-tissue somatic instability and differences in percent methylation were observed between blood and fibroblasts (n=4) and also observed between blood and different brain regions in three of the 18 PM cases examined. CGG repeat lengths in lymphocytes remained unchanged over a period of time ranging from 2 to 6 years, three cases for whom multiple samples were available.
conclusionsIn addition to CGG size instability, individuals with a PM expanded allele can exhibit methylation and display more clinical features likely due to RNA toxicity and/or FMR1 silencing. The observed association between CGG repeat length and percent of methylation with the severity of the clinical phenotypes underscores the potential value of methylation in affected PM to further understand penetrance, inform diagnosis and expand treatment options.
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