ArticleThe Journal of molecular diagnostics : JMD2011
FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.
Article in The Journal of molecular diagnostics : JMD, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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.
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Who cites it
21 citing papers in PubMed, 42 citations in OpenAlex.
- Regulation of Bone Morphogenetic Protein Receptor Type II Expression byInternational journal of molecular sciences · 2024Article
- Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues.Neurobiology of disease · 2024Review
- Review
- Defining the 3'Epigenetic Boundary of theInternational journal of molecular sciences · 2023Article
- DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.International journal of molecular sciences · 2020Article
- Fragile X syndrome in a male with methylated premutation alleles and no detectable methylated full mutation alleles.American journal of medical genetics. Part A · 2019Article
- The Contribution of Pluripotent Stem Cell (PSC)-Based Models to the Study of Fragile X Syndrome (FXS).Brain sciences · 2019Review
- Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.Scientific reports · 2018Article
- Clinical and molecular correlates in fragile X premutation females.eNeurologicalSci · 2017Article
- Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females.Translational psychiatry · 2016Article
- Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.Genes · 2016Review
- Article
- A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders.The Journal of molecular diagnostics : JMD · 2016Article
- Abnormal methylation status of FBXW10 and SMPD3, and associations with clinical characteristics in clear cell renal cell carcinoma.Oncology letters · 2015Article
- Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.Expert reviews in molecular medicine · 2015Review
- Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.World journal of stem cells · 2015Review
- Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women.Neurology · 2015Article
- A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.The Journal of molecular diagnostics : JMD · 2014Article
- Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.Human molecular genetics · 2013Article
- Post-weaning selenium and folate supplementation affects gene and protein expression and global DNA methylation in mice fed high-fat diets.BMC medical genomics · 2013Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Fragile X syndrome (FXS) is caused by loss of the fragile X mental retardation gene protein product (FMRP) through promoter hypermethylation, which is usually associated with CGG expansion to full mutation size (>200 CGG repeats). Methylation-sensitive Southern blotting is the current gold standard for the molecular diagnosis of FXS. For females, Southern blotting provides the activation ratio (AR), which is the proportion of unmethylated alleles on the active X chromosome. Herein, we examine the relationship of FMRP expression with methylation patterns of two fragile X-related epigenetic elements (FREE) analyzed using matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry and the AR. We showed that the differential methylation of the FREE2 sequence within fragile X mental retardation gene intron 1 was related to depletion of FMRP expression. We also show that, using the combined cohort of 12 females with premutation (55 to 200 CGG repeats) and 22 females with full mutation alleles, FREE2 methylation analysis was superior to the AR as a predictor of the proportion of FMRP-positive cells in blood. Because matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry is amenable to high-throughput processing and requires minimal DNA, these findings have implications for routine FXS testing and population screening.
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Registered trials
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