Evidence map›Paper›PMID 41291199›Full record

ArticleEuropean journal of human genetics : EJHG2026

Identification of an episignature for the MEF2C-associated syndrome.

Ananília Silva, Sadegheh Haghshenas, Liselot van der Laan, Michael A Levy, Raissa Relator, Haley McConkey, Jennifer Kerkhof, Steve A Skinner, Laurence Faivre, James Lespinasse and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. New year, new insights in genomic medicine.European journal of human genetics : EJHG · 2026
    Article
  3. New year, new insights in genomic medicine.European journal of human genetics : EJHG · 2026
    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

18 authors.

Ananília SilvaDepartment of Pathology and Laboratory Medicine, Western University, London, ON, Canada.
Sadegheh HaghshenasVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.
Liselot van der LaanDepartment of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.ORCID 0000-0002-7800-8665
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.
Haley McConkeyDepartment of Pathology and Laboratory Medicine, Western University, London, ON, Canada.
Jennifer KerkhofVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.ORCID 0000-0003-1245-6606
Steve A SkinnerGreenwood Genetic Center, Greenwood, SC, 29646, USA.
Laurence FaivreGAD INSERM UMR 1231, Fédération Hospitalo-Universitaire-TRANSLAD, University of Burgundy, Dijon, France.ORCID 0000-0001-9770-444X
James LespinasseUF de génétique médicale, Centre Hospitalier Métropole Savoie, BP 31135, 73011, Chambéry, France.
Antonio VitobelloGAD INSERM UMR 1231, Fédération Hospitalo-Universitaire-TRANSLAD, University of Burgundy, Dijon, France.ORCID 0000-0003-3717-8374
Irene ValenzuelaDepartment of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Ingrid E SchefferEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, VIC, Australia.
Sophie J Russ-HallEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, VIC, Australia.
Kenneth A MyersDivision of Neurology, Department of Pediatrics, Montreal Children's Hospital, 54473, McGill University Health Centre, Montreal, QC, Canada.ORCID 0000-0001-7831-4593
Matthew L TedderGreenwood Genetic Center, Greenwood, SC, 29646, USA.ORCID 0000-0003-0613-6702
Bekim SadikovicDepartment of Pathology and Laboratory Medicine, Western University, London, ON, Canada. bekim.sadikovic@lhsc.on.ca.ORCID 0000-0001-6363-0016
Jessica A Cooley ColemanGreenwood Genetic Center, Greenwood, SC, 29646, USA.ORCID 0000-0002-7050-8796

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (NEDHSIL), also known as MEF2C-related disorder or MEF2C haploinsufficiency syndrome (MCHS), is a condition caused by pathogenic variants in the Myocyte Enhancer Factor-2C (MEF2C) gene. This study aimed to identify a DNA methylation episignature specific to NEDHSIL and explore its similarities with other known episignatures. Genome-wide DNA levels were assessed in a cohort of patients with MEF2C mutations and controls, and differentially methylated CpG sites were identified. A bioinformatic analysis yielded a classifier that was trained against controls and other known episignature disorders within the EpiSign Knowledge Database. The classifier demonstrated high accuracy, sensitivity, and specificity in classifying NEDHSIL samples. Furthermore, functional annotation and comparative analysis revealed similarities between the NEDHSIL episignature and other genetic neurodevelopmental disorders. This study provides evidence for a DNA methylation episignature specific to NEDHSIL and highlights the potential utility of this epigenetic biomarker for diagnosing and understanding molecular pathophysiology of neurodevelopmental disorders associated with MEF2C mutations.

Indexed as

DNA MethylationMEF2 Transcription FactorsNeurodevelopmental DisordersCpG IslandsFemaleHaploinsufficiencyHumansMaleMutationMEF2C protein, humanMEF2 Transcription Factors

Identifiers

PMID41291199
PMCPMC12816611

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.