Evidence map›Paper›PMID 28293299›Full record

ArticleEpigenetics & chromatin2017

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.

Laila C Schenkel, Kristin D Kernohan, Arran McBride, Ditta Reina, Amanda Hodge, Peter J Ainsworth, David I Rodenhiser, Guillaume Pare, Nathalie G Bérubé, Cindy Skinner and 3 more

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

Article in Epigenetics & chromatin, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 1 pooled it
7.5field-weighted citation impact, top 3% 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

39 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.

  1. Pooled it
  2. Narcolepsy is (not) an autoimmune disease.Nature reviews. Neurology · 2026
    Review
  3. Genes · 2026
    Article
  4. Review
  5. Article
  6. Expanding Upon Genomics in Rare Diseases: Epigenomic Insights.International journal of molecular sciences · 2024
    Review
  7. Review
  8. Article
  9. Mutant ATRX: pathogenesis of ATRX syndrome and cancer.Frontiers in molecular biosciences · 2024
    Review
  10. Article
  11. Article
  12. Review
  13. Review
  14. Article
  15. Review
  16. Article
  17. Review
  18. Article
  19. Review
  20. Article
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

13 authors at 7 institutions in 2 countries.

Laila C SchenkelDepartment of Pathology and Lab Medicine, Western University, London, ON Canada.
Kristin D KernohanChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON Canada.
Arran McBrideChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON Canada.
Ditta ReinaDepartment of Pathology and Molecular Medicine, McMaster University, Hamilton, ON Canada.
Amanda HodgeDepartment of Pathology and Molecular Medicine, McMaster University, Hamilton, ON Canada.
Peter J AinsworthDepartment of Pathology and Lab Medicine, Western University, London, ON Canada.
David I RodenhiserDepartment of Paediatrics, Western University, London, ON Canada.
Guillaume PareDepartment of Pathology and Molecular Medicine, McMaster University, Hamilton, ON Canada.
Nathalie G BérubéDepartment of Paediatrics, Western University, London, ON Canada.
Cindy SkinnerCenter for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC USA.
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON Canada.
Charles SchwartzCenter for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC USA.
Bekim SadikovicDepartment of Pathology and Lab Medicine, Western University, London, ON Canada.
McMaster University · CAWestern University · CAChildren's Hospital of Eastern Ontario · CAGreenwood Genetic Center · USLondon Health Sciences Centre · CAUniversity of Ottawa · CAVictoria Hospital · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAlpha thalassemia/mental retardation X-linked syndrome (ATR-X) is caused by a mutation at the chromatin regulator gene

resultsWe performed genome-wide DNA methylation assessment of the peripheral blood samples from 18 patients with ATR-X and compared it to 210 controls. We demonstrated the evidence of a unique and highly specific DNA methylation "epi-signature" in the peripheral blood of ATRX patients, which was corroborated by targeted bisulfite sequencing experiments. Although genomically represented, differentially methylated regions showed evidence of preferential clustering in pericentromeric and telometric chromosomal regions, areas where ATRX has multiple functions related to maintenance of heterochromatin and genomic integrity.

conclusionMost significant methylation changes in the 14 genomic loci provide a unique epigenetic signature for this syndrome that may be used as a highly sensitive and specific diagnostic biomarker to support the diagnosis of ATR-X, particularly in patients with phenotypic complexity and in patients with

Indexed as

Epigenesis, GeneticAdolescentAdultalpha-ThalassemiaChildChild, PreschoolCpG IslandsDNADNA MethylationGenotypeHumansInfantMaleMiddle AgedPromoter Regions, GeneticSequence Analysis, DNAATRX protein, humanDNAX-linked Nuclear ProteinATRXBiomarkerDNA methylationEpi-signatureIntellectual disability

Identifiers

PMID28293299
PMCPMC5345252
OpenAlexW2593172104

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Registered trials

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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.