ArticleExpert review of molecular diagnostics2017
Size and methylation mosaicism in males with Fragile X syndrome.
Article in Expert review of molecular diagnostics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 61 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
- Toward the clinical application of long-read sequencing in repeat-expansion disorders.Nature genetics · 2026Review
- Phenotypic variability of Fragile-X syndrome in Asian population: A systematic review.Intractable & rare diseases research · 2026Review
- Distinct and shared intrinsic resting-state functional networks in children with idiopathic autism spectrum disorder and fragile X syndrome.Molecular psychiatry · 2025Article
- Personalized Follow Up and Genetic Diagnosis Update ofInternational journal of molecular sciences · 2025Article
- In Utero Alcohol and Unsuitable Home Environmental Exposure Combined withInternational journal of molecular sciences · 2025Article
- Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.International journal of molecular sciences · 2025Article
- Mosaic H3K9me3 at BREACHes predicts synaptic gene expression associated with fragile X syndrome cognitive severity.bioRxiv : the preprint server for biology · 2025Article
- Review
- Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.International journal of molecular sciences · 2024Review
- Review
- DNA Methylation in Autism Spectrum Disorders: Biomarker or Pharmacological Target?Brain sciences · 2024Review
- 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
- Review
- Review
- Phenotypic variability to medication management: an update on fragile X syndrome.Human genomics · 2023Review
- Article
- A sensitive and reproducible qRT-PCR assay detects physiological relevant trace levels of FMR1 mRNA in individuals with Fragile X syndrome.Scientific reports · 2023Article
- Role of the endocannabinoid system in fragile X syndrome: potential mechanisms for benefit from cannabidiol treatment.Journal of neurodevelopmental disorders · 2023Review
- Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundSize and methylation mosaicism are a common phenomenon in Fragile X syndrome (FXS). Here, the authors report a study on twelve fragile X males with atypical mosaicism, seven of whom presented with autism spectrum disorder.
methodsA combination of Southern Blot and PCR analysis was used for CGG allele sizing and methylation. FMR1 mRNA and FMRP expression were measured by qRT-PCR and by Homogeneous Time Resolved Fluorescence methodology, respectively.
resultsDNA analysis showed atypical size- or methylation-mosaicism with both, full mutation and smaller (normal to premutation) alleles, as well as a combination of methylated and unmethylated alleles. Four individuals carried a deletion of the CGG repeat and portions of the flanking regions. The extent of methylation among the participants was reflected in the lower FMR1 mRNA and FMRP expression levels detected in these subjects.
conclusionDecreased gene expression is likely the main contributor to the cognitive impairment observed in these subjects; although the presence of a normal allele did not appear to compensate for the presence of the full mutation, it correlated with better cognitive function in some but not all of the reported cases emphasizing the complexity of the molecular and clinical profile in FXS.
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Registered trials
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