In one paragraphArticle in Genome medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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0citing papers in PubMed
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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 registryThe 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.
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3 · Its place in the literatureWho cites it
0 citing papers in PubMed.
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
50 authors.
Amandine SantiniDepartment of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.ORCID 0009-0001-0738-0531 Anne-Claire RichardDepartment of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France.
Gilles PhanUMR 8038, Laboratoire CiTCoM (Cibles Thérapeutiques Et Conception de Médicaments), Faculté de Pharmacie de Paris, Université Paris Cité, CNRS, Paris, France.ORCID 0000-0001-9683-4453 Pauline MarzinService de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.ORCID 0000-0002-6715-9652 Angele MayDepartment of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France.
Caroline MichotService de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.ORCID 0000-0002-8749-5899 Adela Chirita-EmandiDepartment of Microscopic Morphology, Genetics Discipline, Center of Genomic Medicine, University of Medicine and Pharmacy "Victor Babes", Timisoara, Romania.ORCID 0000-0001-7554-4625 Jorge M SaraivaMedical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.ORCID 0000-0002-7232-3509 Maria Juliana Ballesta-MartinezSección Genética Médica. Servicio de Pediatría. Hospital Clinico Universitario Virgen de La Arrixaca, Murcia, Spain.ORCID 0000-0001-8479-1388 Ivona SansovićDepartment of Medical and Laboratory Genetics, Endocrinology and Diabetology, Children's Hospital Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.ORCID 0000-0002-9325-0847 Tahsin Stefan BarakatDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0003-1231-1562 Jamal GhoumidULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, University Lille, Clinique de Génétique, Lille, France.ORCID 0000-0002-7111-0050 Marjolaine WillemsDépartement de Génétique Clinique, CHRU de Montpellier, Hôpital Arnaud de Villeneuve, Montpellier, France.ORCID 0000-0002-2959-0935 Ina SchanzeInstitute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Stéphanie MoortgatCentre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.ORCID 0000-0002-4783-8674 Alix PauletService de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.ORCID 0009-0002-8498-9719 Alison YeungVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Leticia Pias-PeleteiroNeurometabolic Disorders Unit, Department of Child Neurology/Department of Genetics and Molecular Medicine, Sant Joan de Déu Hospital, Barcelona, Spain.ORCID 0000-0002-1608-841X Marlène RioService de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.ORCID 0000-0003-2049-5058 Thomas CourtinService de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.ORCID 0000-0002-0275-2498 Hamza Hadj AbdallahService de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.
Jean-Sérène LaloyService de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.
Paul RollierGénétique Clinique - Centre de Référence Maladies Rares CLAD-Ouest, FHU GenOMedS, CHU de Rennes, Rennes, France.ORCID 0000-0001-7303-8825 Anne-Marie GuerrotDepartment of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France.ORCID 0000-0002-4145-7408 Alice GoldenbergDepartment of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France.ORCID 0000-0002-5864-9182 Julian DelanneInserm, CTM UMR1231, Équipe GAD, FHU TRANSLAD, Centre de Génétique, Centre de Référence Anomalies du Développement Et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, Université Bourgogne Europe, CHU Dijon Bourgogne, Et Centre de Référence GénoPsy, Dijon, France.ORCID 0000-0001-8398-7063 Laurence FaivreInserm, CTM UMR1231, Équipe GAD, FHU TRANSLAD, Centre de Génétique, Centre de Référence Anomalies du Développement Et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, Université Bourgogne Europe, CHU Dijon Bourgogne, Et Centre de Référence GénoPsy, Dijon, France.ORCID 0000-0001-9770-444X François LecoquierreDepartment of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France.ORCID 0000-0002-9110-1856 Gaël NicolasDepartment of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France.ORCID 0000-0001-9391-7800 Aurélie CoussementFédération de Génétique Et Médecine Génomique, Service de Médecine Génomique Des Maladies de Système Et d'Organes, AP-HP, Hôpital Cochin, Paris, France.
Matthieu DefranceInteruniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Brussels, Belgium.ORCID 0000-0002-3090-3142 Camille CharbonnierDepartment of Biostatistics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.ORCID 0000-0003-1172-0196 Maud de DieuleveultUniversité Paris Cité, INSERM U1163, Imagine Institute, Paris, France. maud.de-dieuleveult@inserm.fr.ORCID 0000-0002-3387-1836 Funding
2022 MESSIDORE MESSIDORE N°19Fondation Maladies Rares Omics2024-15089IdEx Université Paris Cité ANR-18-IDEX-0001Netherlands Organisation for Scientific Research 09150172110002Region Normandie and GIRCI Nord Ouest FHU-A2M2P
6 · The paper itselfAbstract
backgroundRecent advances in sequencing technologies have enhanced patient diagnosis; however, causal pathogenic variants remain unidentified for a significant number of patients due to limited understanding of certain variants, regulatory sequences, or sequencing challenges, such as complex rearrangements. Investigating the epigenetic landscape has become essential to improve the diagnostic yield. Diseases caused by pathogenic variants in epigenetic regulators, often associated with growth abnormalities, intellectual disability, and facial dysmorphism, are prime models for studying episignatures. Among them, Snijders Blok-Campeau syndrome (ORPHA:599082), caused by pathogenic variants in the CHD3 gene, remains largely understudied.
methodsA European cohort of 23 patients displaying typical Snijders Blok-Campeau syndrome traits and carrying pathogenic/likely pathogenic CHD3 variants was analysed using the Illumina EPIC array, identifying 270 differentially methylated positions distinguishing patients from 62 healthy matched controls. A subset of these regions serves as diagnostic tools for complex cases or variants of uncertain significance and helps uncover deregulated pathways linked to this syndrome. Four patients carrying pathogenic/likely pathogenic variants but with atypical clinical presentation, as well as 10 patients with variants of uncertain significance, were analysed as the testing set.
resultsComparing methylomes of patients carrying pathogenic variants in CHD3, CHD7 (CHARGE syndrome, ORPHA:138), and CHD8 (Intellectual developmental disorder with autism and macrocephaly, ORPHA:642675) genes allows us to identify distinct subgroups with unique methylation profiles. This CHD3 DNA methylation signature aids in reclassifying variants and diagnosing atypical cases.
conclusionsOur findings advance the field of epigenetic signatures in rare diseases. We have opened new avenues for further investigation into subtypes defined by methylome assays (such as in the context of chromatinopathies), which could refine the phenotype spectrum and help predict patient outcomes.
Indexed as
CHARGE SyndromeChromatinDNA HelicasesMi-2 Nucleosome Remodeling and Deacetylase ComplexChildChild, PreschoolDevelopmental DisabilitiesDNA MethylationEpigenesis, GeneticFaciesFemaleGenetic HeterogeneityHumansHypertelorismIntellectual DisabilityPhenotypeCHD3 protein, humanChromatinDNA HelicasesMi-2 Nucleosome Remodeling and Deacetylase ComplexCHD3DNA methylationEpisignatureRare DiseasesSnijders Blok-Campeau syndrome
Identifiers
PMID41952182
PMCPMC13067702
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