ArticleHuman molecular genetics2013
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.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 22 citations in OpenAlex.
- Defining the 3'Epigenetic Boundary of theInternational journal of molecular sciences · 2023Article
- Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.American journal of medical genetics. Part A · 2023Article
- Methylation analysis and developmental profile of two individuals with Angelman syndrome due to mosaic imprinting defects.European journal of medical genetics · 2022Article
- DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.International journal of molecular sciences · 2020Article
- Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.Journal of neurodevelopmental disorders · 2019Article
- Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.Scientific reports · 2019Article
- Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.Molecular autism · 2019Article
- Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.Scientific reports · 2018Article
- Reevaluation ofFrontiers in molecular neuroscience · 2018Review
- Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females.Translational psychiatry · 2016Article
- The cognitive developmental profile associated with fragile X syndrome: A longitudinal investigation of cognitive strengths and weaknesses through childhood and adolescence.Development and psychopathology · 2016Article
- Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.Genes · 2016Article
- Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndrome.Clinical epigenetics · 2016Article
- Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.Expert reviews in molecular medicine · 2015Review
- Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.PloS one · 2015Article
- Fragile X Syndrome in children.Colombia medica (Cali, Colombia)Review
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12 authors at 7 institutions in 2 countries.
Funding
Abstract
Methylation of the fragile X-related epigenetic element 2 (FREE2) located on the exon 1/intron 1 boundary of the FMR1 gene is related to FMRP expression and cognitive impairment in full mutation (FM; CGG>200) individuals. We examined the relationship between age, the size of the FMR1 CGG expansion and the methylation output ratio (MOR) at 12 CpG sites proximal to the exon 1/intron 1 boundary using FREE2 MALDI-TOF MS. The patient cohort included 119 males and 368 females, i.e. 121 healthy controls (CGG<40), 176 premutation (CGG 55-170) and 190 FM (CGG 213-2000). For all CpG units examined, FM males showed a significantly elevated MOR compared with that in hypermethylated FM females. In FM males the MOR for most CpG units significantly positively correlated with both age and CGG size (P< 0.05). In FM females the skewing towards the unmethylated state was significant for half of the units between birth and puberty (P < 0.05). The methylation status of intron 1 CpG10-12 that was most significantly related to cognitive impairment in our earlier study, did not change significantly with age in FM females. These results challenge the concept of fragile X syndrome (FXS)-related methylation being static over time, and suggest that due to the preference for the unmethylated state in FM females, X-inactivation at this locus is not random. The findings also highlight that the prognostic value of FXS methylation testing is not uniform between all CpG sites, and thus may need to be evaluated on a site-by-site basis.
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