ArticleEpigenetics2013
Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Article in Epigenetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 38 citations in OpenAlex.
- The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.Genetic testing and molecular biomarkers · 2015Trial
- The Linea Alba Width, Children's Physical Activity, and Chosen Anthropometric Measurements: The Results of the Cross-Sectional Study.Pediatric reports · 2025Article
- Comparison of Minimally Invasive Surfactant Therapy and Intubation-surfactant Administration-extubation in Premature Neonates with Respiratory Distress Syndrome.Oman medical journal · 2025Article
- Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines.International journal of molecular sciences · 2024Article
- Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.Annals of laboratory medicine · 2022Article
- Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2.Cold Spring Harbor molecular case studies · 2021Article
- Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome.Journal of personalized medicine · 2021Article
- Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.International journal of molecular sciences · 2021Review
- A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3.Molecular cytogenetics · 2021Article
- Extensive Placental Methylation Profiling in Normal Pregnancies.International journal of molecular sciences · 2021Article
- Imprinted Genes Impact Upon Beta Cell Function in the Current (and Potentially Next) Generation.Frontiers in endocrinology · 2021Review
- (Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.Molecular genetics & genomic medicine · 2020Article
- Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients.Scientific reports · 2020Article
- The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.Clinical epigenetics · 2019Article
- Targeted demethylation at the CDKN1C/p57 locus induces human β cell replication.The Journal of clinical investigation · 2019Article
- Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders.Epigenetics · 2018Article
- Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.BMC medical genetics · 2017Article
- Role of DNA methylation in imprinting disorders: an updated review.Journal of assisted reproduction and genetics · 2017Review
- De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome.Molecular cytogenetics · 2017Article
- (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.European journal of human genetics : EJHG · 2016Article
Corrections and comments
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Authors and funding
16 authors at 11 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by overgrowth and predisposition to embryonal tumors. BWS is caused by various epigenetic and/or genetic alterations that dysregulate the imprinted genes on chromosome region 11p15.5. Molecular analysis is required to reinforce the clinical diagnosis of BWS and to identify BWS patients with cancer susceptibility. This is particularly crucial prenatally because most signs of BWS cannot be recognized in utero. We established a reliable molecular assay by pyrosequencing to quantitatively evaluate the methylation profiles of ICR1 and ICR2. We explored epigenotype-phenotype correlations in 19 patients that fulfilled the clinical diagnostic criteria for BWS, 22 patients with suspected BWS, and three fetuses with omphalocele. Abnormal methylation was observed in one prenatal case and 19 postnatal cases, including seven suspected BWS. Seven cases showed ICR1 hypermethylation, five cases showed ICR2 hypomethylation, and eight cases showed abnormal methylation of ICR1 and ICR2 indicating paternal uniparental disomy (UPD). More cases of ICR1 alterations and UPD were found than expected. This is likely due to the sensitivity of this approach, which can detect slight deviations in methylation from normal levels. There was a significant correlation (p<0.001) between the percentage of ICR1 methylation and BWS features: severe hypermethylation (range: 75-86%) was associated with macroglossia, macrosomia, and visceromegaly, whereas mild hypermethylation (range: 55-59%) was associated with umbilical hernia and diastasis recti. Evaluation of ICR1 and ICR2 methylation by pyrosequencing in BWS can improve epigenotype-phenotype correlations, detection of methylation alterations in suspected cases, and identification of UPD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.