Evidence map›Paper›PMID 39089258›Full record

ArticleAmerican journal of human genetics2024

Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.

Sadegheh Haghshenas, Karim Karimi, Roger E Stevenson, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Jessica Rzasa, Haley McConkey, Carolyn Lauzon-Young, Tugce B Balci and 20 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
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

8 citing papers in PubMed.

  1. Article
  2. A Population-Based Assessment of Cancer Risk in Children With VACTERL.American journal of medical genetics. Part A · 2026
    Article
  3. Review
  4. Article
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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

30 authors.

Sadegheh HaghshenasVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.
Karim KarimiVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.
Roger E StevensonGreenwood Genetic Center, Greenwood, SC 29646, USA.
Michael A LevyVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.
Raissa RelatorVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.
Jennifer KerkhofVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.
Jessica RzasaVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.
Haley McConkeyVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.
Carolyn Lauzon-YoungVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.
Tugce B BalciDepartment of Pediatrics, Division of Medical Genetics, Western University, London, ON, Canada; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, ON, Canada.
Alexandre M White-BrownChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Melissa T CarterDepartment of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Julie RicherDepartment of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Christine M ArmourDepartment of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Sarah L SawyerDepartment of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Priya T BholaDepartment of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Matthew L TedderGreenwood Genetic Center, Greenwood, SC 29646, USA.
Cindy D SkinnerGreenwood Genetic Center, Greenwood, SC 29646, USA.
Iris A L M van RooijDepartment IQ Health, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.
Romy van de PutteDepartment IQ Health, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.
Ivo de BlaauwDepartment of Surgery-Pediatric Surgery, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.
Rebekka M KoeckDepartment of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, the Netherlands.
Alexander HoischenDepartment of Human Genetics and Donders Center for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands; Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, the Netherlands.
Han BrunnerDepartment of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, the Netherlands; Department of Human Genetics and Donders Center for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Masoud Zamani EstekiDepartment of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, the Netherlands.
Anna PeletLaboratory of Embryology and Genetics of Human Malformations, Institut National de La Santé et de La Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, Paris, France.
Stanislas LyonnetLaboratory of Embryology and Genetics of Human Malformations, Institut National de La Santé et de La Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, Paris, France; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
Jeanne AmielLaboratory of Embryology and Genetics of Human Malformations, Institut National de La Santé et de La Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, Paris, France; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. Electronic address: kboycott@cheo.on.ca.
Bekim SadikovicVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The term "recurrent constellations of embryonic malformations" (RCEM) is used to describe a number of multiple malformation associations that affect three or more body structures. The causes of these disorders are currently unknown, and no diagnostic marker has been identified. Consequently, providing a definitive diagnosis in suspected individuals is challenging. In this study, genome-wide DNA methylation analysis was conducted on DNA samples obtained from the peripheral blood of 53 individuals with RCEM characterized by clinical features recognized as VACTERL and/or oculoauriculovertebral spectrum association. We identified a common DNA methylation episignature in 40 out of the 53 individuals. Subsequently, a sensitive and specific binary classifier was developed based on the DNA methylation episignature. This classifier can facilitate the use of RCEM episignature as a diagnostic biomarker in a clinical setting. The study also investigated the functional correlation of RCEM DNA methylation relative to other genetic disorders with known episignatures, highlighting the common genomic regulatory pathways involved in the pathophysiology of RCEM.

Indexed as

DNA MethylationAbnormalities, MultipleFemaleHumansLimb Deformities, CongenitalMaleDNA methylationepigeneticsepisignatureOAVrecurrent constellations of embryonic malformationsVACTERL

Identifiers

PMID39089258
PMCPMC11339616

What Socratic holds

Textmetadata
Read underepoch 390

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 Socratic graph.