ArticleEuropean journal of human genetics : EJHG2009
Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 50 citations in OpenAlex.
- Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome.International journal of medical sciences · 2024Article
- Long noncoding RNA (lncRNA)Genes & diseases · 2023Review
- Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome.Journal of personalized medicine · 2021Article
- Article
- Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics.Clinical epigenetics · 2019Article
- Epigenome-wide association study in whole blood on type 2 diabetes among sub-Saharan African individuals: findings from the RODAM study.International journal of epidemiology · 2019Article
- Overexpression of long non-coding RNA KCNQ1OT1 is related to good prognosis via inhibiting cell proliferation in non-small cell lung cancer.Thoracic cancer · 2018Article
- Diagnosis and management of Silver-Russell syndrome: first international consensus statement.Nature reviews. Endocrinology · 2017Article
- Identification and functional analysis of long non-coding RNAs in human and mouse early embryos based on single-cell transcriptome data.Oncotarget · 2016Article
- Molecular microevolution and epigenetic patterns of the long non-coding gene H19 show its potential function in pig domestication and breed divergence.BMC evolutionary biology · 2016Article
- (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.European journal of human genetics : EJHG · 2016Article
- Peripheral blood methylation profiling of female Crohn's disease patients.Clinical epigenetics · 2016Article
- Formalin-fixed, paraffin-embedded (FFPE) tissue epigenomics using Infinium HumanMethylation450 BeadChip assays.Laboratory investigation; a journal of technical methods and pathology · 2015Article
- Clinical utility gene card for: Beckwith-Wiedemann Syndrome.European journal of human genetics : EJHG · 2014Article
- Maternally transmitted foetal H19 variants and associations with birth weight.Human genetics · 2011Article
- An atypical case of hypomethylation at multiple imprinted loci.European journal of human genetics : EJHG · 2011Article
- Epigenotype-phenotype correlations in Silver-Russell syndrome.Journal of medical genetics · 2010Article
- Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield.The Journal of molecular diagnostics : JMD · 2010Article
- Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells.European journal of human genetics : EJHG · 2009Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are caused by imprinting defects on chromosome 11p15.5. Standard diagnostic tests for these syndromes include methylation analysis of the differential methylated regions of the H19 and KCNQ1OT1 genes. Traditionally this has been conducted by Southern blot analysis. PCR-based methods greatly improve the turn around time of the test and require less DNA. One of the newly emerging techniques for SNP genotyping and mutation scanning, high-resolution melting (HRM) analysis, has been shown to be also applicable for methylation analysis. We tested methylation-sensitive HRM analysis as a method for the detection of methylation defects in a group of 16 BWS and SRS patients with known methylation status (determined previously by Southern blotting), as well as 45 normal controls. HRM analysis was able to detect all methylation aberrations in the patients and appeared to be more sensitive than Southern blotting. Variation in normal controls is minimal and the presence of SNPs in the amplified fragment does not influence the outcome of the test. We conclude that methylation-sensitive HRM analysis is a robust, fast, sensitive and cost effective method for methylation analysis in BWS and SRS.
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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.