Evidence map›Paper›PMID 30898153›Full record

ArticleClinical epigenetics2019

Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics.

I M Krzyzewska, M Alders, S M Maas, J Bliek, A Venema, P Henneman, F I Rezwan, K V D Lip, A N Mul, D J G Mackay and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical epigenetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
3.4field-weighted citation impact, top 8% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed, 28 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 3 institutions in 2 countries.

I M KrzyzewskaAmsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction & Development, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
M AldersAmsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction & Development, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
S M MaasAmsterdam UMC, University of Amsterdam, Department of Pediatrics, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
J BliekAmsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction & Development, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
A VenemaAmsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction & Development, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
P HennemanAmsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction & Development, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
F I RezwanFaculty of Medicine, University of Southampton, Southampton, UK.
K V D LipAmsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction & Development, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
A N MulAmsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction & Development, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
D J G MackayFaculty of Medicine, University of Southampton, Southampton, UK.
M M A M MannensAmsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction & Development, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. m.a.mannens@amc.uva.nl.
University of Amsterdam · NLAmsterdam University Medical Centers · NLUniversity of Southampton · GB

Funding

Medical Research Council MR/J000329/1
6 · The paper itself

Abstract

Beckwith-Wiedemann syndrome (BWS) is caused due to the disturbance of imprinted genes at chromosome 11p15. The molecular confirmation of this syndrome is possible in approximately 85% of the cases, whereas in the remaining 15% of the cases, the underlying defect remains unclear. The goal of our research was to identify new epigenetic loci related to BWS. We studied a group of 25 patients clinically diagnosed with BWS but without molecular conformation after DNA diagnostics and performed a whole genome methylation analysis using the HumanMethylation450 Array (Illumina).We found hypermethylation throughout the methylome in two BWS patients. The hypermethylated sites in these patients overlapped and included both non-imprinted and imprinted regions. This finding was not previously described in any BWS-diagnosed patient.Furthermore, one BWS patient exhibited aberrant methylation in four maternally methylated regions-IGF1R, NHP2L1, L3MBTL, and ZDBF2-that overlapped with the differentially methylated regions found in BWS patients with multi-locus imprinting disturbance (MLID). This finding suggests that the BWS phenotype can result from MLID without detectable methylation defects in the primarily disease-associated loci (11p15). Another patient manifested small but significant aberrant methylation in disease-associated loci at 11p near H19, possibly confirming the diagnosis in this patient.

Indexed as

DNA MethylationBeckwith-Wiedemann SyndromeChromosomes, Human, Pair 11FemaleGenomic ImprintingHumansMaleOligonucleotide Array Sequence AnalysisPhenotypeWhole Genome SequencingBWSDNA-methylationImprinting disordersMLID

Identifiers

PMID30898153
PMCPMC6429826
OpenAlexW2942608081

What OpenQuestion holds

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Registered trials

None linked

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.