ArticleThe Journal of molecular diagnostics : JMD2014
A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.
Article in The Journal of molecular diagnostics : JMD, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed.
- Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026Article
- Semantic and Syntactic Language Differences Associated with theJournal of neurolinguistics · 2026Article
- FMR1 Premutation Carrier Mothers' Daily Negative Affect and Cortisol: Probing the Impacts of Stress Exposure, Coping Style, and CGG Repeats.American journal on intellectual and developmental disabilities · 2025Article
- Enhanced accuracy and sensitivity in detecting FMR1 CGG repeats: a multicenter evaluation of a novel PCR-capillary electrophoresis assay.World journal of pediatrics : WJP · 2025Article
- Next-Generation Sequencing: A Review of Its Transformative Impact on Cancer Diagnosis, Treatment, and Resistance Management.Diagnostics (Basel, Switzerland) · 2025Review
- Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.International journal of molecular sciences · 2024Review
- Optical Genome Mapping Enables Detection and Accurate Sizing ofBiomolecules · 2023Article
- Mortality in Women across theCells · 2023Article
- Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control.Experimental brain research · 2023Article
- Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome.American journal on intellectual and developmental disabilities · 2023Article
- The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women.SSM - population health · 2022Article
- Use of theGenes · 2022Article
- Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort.Movement disorders : official journal of the Movement Disorder Society · 2021Article
- Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome.Psychoneuroendocrinology · 2021Article
- IsFrontiers in psychiatry · 2021Article
- Bisulfite Treatment of CG-Rich Track of Trinucleotide Repeat Expansion Disorder: Make the Sequence Less CG Rich.Advanced biomedical research · 2021Article
- A Genotype-Phenotype Study of High-ResolutionBrain sciences · 2020Article
- Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome.Brain and cognition · 2020Article
- Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.BMC medical genetics · 2018Article
- FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of theFrontiers in genetics · 2018Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
Fragile X syndrome and associated disorders are characterized by the number of CGG repeats and methylation status of the FMR1 gene for which Southern blot (SB) historically has been required for analysis. This study describes a simple PCR-only workflow (mPCR) to replace SB analysis, that incorporates novel procedural controls, treatment of the DNA in separate control and methylation-sensitive restriction endonuclease reactions, amplification with labeled primers, and two-color amplicon sizing by capillary electrophoresis. mPCR was evaluated in two independent laboratories with 76 residual clinical samples that represented typical and challenging fragile X alleles in both males and females. mPCR enabled superior size resolution and analytical sensitivity for size and methylation mosaicism compared to SB. Full mutation mosaicism was detected down to 1% in a background of 99% normal allele with 50- to 100-fold less DNA than required for SB. A low level of full mutation mosaicism in one sample was detected using mPCR but not observed using SB. Overall, the sensitivity for detection of full mutation alleles was 100% (95% CI: 89%-100%) with an accuracy of 99% (95% CI: 93%-100%). mPCR analysis of DNA from individuals with Klinefelter and Turner syndromes, and DNA from sperm and blood, were consistent with SB. As such, mPCR enables accurate, sensitive, and standardized methods of FMR1 analysis that can harmonize results across different laboratories.
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