Evidence map›Paper›PMID 40301896›Full record

ArticleClinical epigenetics2025

Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature.

Quentin Sabbagh, Nathalie Ruiz-Pallares, Cassandra Rastin, Jacques Puechberty, Thomas Guignard, Claire Jeandel, Fanny Merklen, Pascal Pujol, Jennifer Kerkhof, Bekim Sadikovic and 2 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical epigenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

12 authors.

Quentin SabbaghDepartment of Clinical Genetics, Centre de Référence « Anomalies du Développement et Syndromes Malformatifs », University Hospital of Montpellier, Inserm UMR1183, Montpellier University, Montpellier, France.
Nathalie Ruiz-PallaresDepartment of Molecular Genetics and Cytogenomics, University Hospital of Montpellier, Montpellier University, Montpellier, France.
Cassandra RastinVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.
Jacques PuechbertyDepartment of Clinical Genetics, Centre de Référence « Anomalies du Développement et Syndromes Malformatifs », University Hospital of Montpellier, Inserm UMR1183, Montpellier University, Montpellier, France.
Thomas GuignardDepartment of Molecular Genetics and Cytogenomics, University Hospital of Montpellier, Montpellier University, Montpellier, France.
Claire JeandelDepartment of Paediatric Endocrinology, University Hospital of Montpellier, Montpellier University, Montpellier, France.
Fanny MerklenDepartment of Otorhinolaryngology, University Hospital of Montpellier, Montpellier University, Montpellier, France.
Pascal PujolFrench Society for Predictive and Personalized Medicine (SFMPP), Montpellier, France.
Jennifer KerkhofVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.
Bekim SadikovicVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.
Mouna Barat-HouariDepartment of Molecular Genetics and Cytogenomics, University Hospital of Montpellier, Montpellier University, Montpellier, France.
David GenevièveDepartment of Clinical Genetics, Centre de Référence « Anomalies du Développement et Syndromes Malformatifs », University Hospital of Montpellier, Inserm UMR1183, Montpellier University, Montpellier, France. d-genevieve@chu-montpellier.fr.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Kabuki syndrome type 1 (KS1) is a monogenic disorder arising from pathogenic variants within KMT2D and characterized by syndromic neurodevelopmental delay. We report the retrospective identification of a causative AluY insertion within KMT2D in a genetically unsolved individual with typical KS1 features, after identification of a DNA methylation signature. This is the first documentation of Alu insertion as a molecular mechanism responsible for KS1. This study emphasizes the need for reanalyzing inconclusive sequencing data in individuals with gene-specific phenotypes and reinforces episignature as a reliable diagnostic tool when NGS approaches fail to provide conclusive results in individuals with rare diseases.

Indexed as

Abnormalities, MultipleAlu ElementsHematologic DiseasesNeoplasm ProteinsVestibular DiseasesDNA-Binding ProteinsDNA MethylationFaceGenotyping TechniquesHumansRetrospective StudiesDNA-Binding ProteinsKMT2D protein, humanNeoplasm ProteinsAlu elementEpigenetic signatureKabuki syndromeKMT2DMobile element insertion

Identifiers

PMID40301896
PMCPMC12042423

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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.