ArticleAmerican journal of human genetics2019
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
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Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06729554 (Education & Care in RARE - Efficacy of Targeted Psychoeducational Intervention to Improve Knowledge About Rare Diseases and to Promote Mental Health Among Pediatric Rare Disease Patients), which is not on this map. Cited by 27 papers.
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27citing papers in PubMed
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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.
Education & Care in RARE - Efficacy of Targeted Psychoeducational Intervention to Improve Knowledge About Rare Diseases and to Promote Mental Health Among Pediatric Rare Disease Patients
Who cites it
27 citing papers in PubMed.
- Firemaster 550 differentially alters gene expression underlying synaptic function in amygdala of prairie voles after gestational or lactational exposure.Neurotoxicology · 2026Article
- [A case report of Diets-Jongmans syndrome caused by aZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- De Novo HeterozygousGenes · 2026Review
- Diets-Jongmans Syndrome due to a Novel KDM3B Variant: The First Molecularly Confirmed Case from Turkey.Molecular syndromology · 2026Article
- Integrated transcriptomics of multiple sclerosis peripheral blood mononuclear cells explored potential biomarkers for the disease.Biochemistry and biophysics reports · 2025Article
- Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.EBioMedicine · 2025Article
- Molecular and clinical aspects of histone-related disorders.Human genomics · 2025Review
- O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.The Journal of biological chemistry · 2024Review
- Epigenetic roles of KDM3B and KDM3C in tumorigenesis and their therapeutic implications.Cell death & disease · 2024Review
- Epigenetic regulation ofAutophagy · 2024Review
- JMJD1B mediates H4R3me2s reprogramming to maintain DNA demethylation status in neural progenitor cells during embryonic development.Cell insight · 2023Article
- Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.Human molecular genetics · 2023Article
- Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.American journal of human genetics · 2023Article
- Two patients with KDM3B variants and new presentations of Diets-Jongmans syndrome.Neurogenetics · 2023Article
- A rare presentation of childhood interstitial lung disease attributed to KDM3B gene mutation: a case report.The Pan African medical journal · 2023Article
- A novelMolecular genetics and metabolism reports · 2022Article
- Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.American journal of medical genetics. Part A · 2022Review
- Underlying genetic etiologies of congenital diaphragmatic hernia.Prenatal diagnosis · 2022Review
- De novo mutations identified by whole-genome sequencing implicate chromatin modifications in obsessive-compulsive disorder.Science advances · 2022Article
- Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma.Familial cancer · 2021Article
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Authors and funding
38 authors.
Illja J DietsDepartment of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.
Roos van der DonkDepartment of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands.
Kristina BaltrunaiteDivision of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
Esmé WaandersPrincess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands.
Margot R F ReijndersDepartment of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, 6229HX Maastricht, the Netherlands.
Alexander J M DingemansDepartment of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.
Rolph PfundtDepartment of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.
Anneke T Vulto-van SilfhoutDepartment of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.
Laurens WielDepartment of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.
Christian GilissenDepartment of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.
Julien ThevenonCentre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, 21079 Dijon, France; Equipe Génétique des Anomalies du Développement, Université de Bourgogne-France Comté, 21070 Dijon, France.
Laurence PerrinCentre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, 21079 Dijon, France.
Alexandra AfenjarAPHP, Département de Génétique et Embryologie Médicale, Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC n°19, ConCer-LD, Hôpital Armand Trousseau, 75012 Paris, France.
Caroline NavaAPHP, Hôpital Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Institut National de la Santé et de la Recherche Médicale U1127, Centre National de la Recherche Scientifique UMR 7225, 75013, Paris, France.
Boris KerenAPHP, Hôpital Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.
Sarah BartzDivision of Endocrinology, Children's Hospital of Colorado, Aurora, CO 80045, USA.
Bethany PeriDivision of Endocrinology, Children's Hospital of Colorado, Aurora, CO 80045, USA.
Gea BeundersDepartment of Clinical Genetics, VU University Medical Center, 1081HV Amsterdam, the Netherlands.
Nienke VerbeekDepartment of Genetics, University Medical Center Utrecht, 3508AB Utrecht, the Netherlands.
Koen van GassenDepartment of Genetics, University Medical Center Utrecht, 3508AB Utrecht, the Netherlands.
Isabelle ThiffaultCenter for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 66211, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 66211, USA; University of Missouri, Kansas City School of Medicine, Kansas City, MO 66211, USA.
Maxime Cadieux-DionCenter for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 66211, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 66211, USA.
Lina Huerta-SaenzChildren's Mercy Hospital, Kansas City, MO 66211, USA; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Penn State Hershey Children's Hospital, Hershey, PA 17033, USA.
Matias WagnerInstitute of Human Genetics, Technische Universität München, 80333 Munich, Germany; Institute for Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute for Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Vassiliki KonstantopoulouDepartment of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria.
Julia VodopiutzDepartment of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria.
Matthias GrieseDr. von Hauner Children's Hospital, Division of Pediatric Pneumology, University Hospital Munich, German Center for Lung Research, 80333 Munich, Germany.
Annekatrien BoelCenter for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
Bert CallewaertCenter for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
Han G BrunnerDepartment of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, 6525GA Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202AZ Maastricht, the Netherlands.
Tjitske KleefstraDepartment of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, 6525GA Nijmegen, the Netherlands.
Nicoline HoogerbruggeDepartment of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.
Bert B A de VriesDepartment of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.
Vivian HwaDivision of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
Andrew DauberDivision of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA; Division of Endocrinology, Children's National Health System, Washington, DC 20010, USA.
Jayne Y Hehir-KwaPrincess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands.
Roland P KuiperDepartment of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands.
Marjolijn C J JongmansDepartment of Human Genetics, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands; Princess Máxima Center for Pediatric Oncology, 3584CS Utrecht, the Netherlands; Department of Genetics, University Medical Center Utrecht, 3508AB Utrecht, the Netherlands. Electronic address: m.c.j.jongmans-3@umcutrecht.nl.
Funding
Roles of STAT5b in IGF-I Production and Human GrowthR01HD078592 · NICHD · CINCINNATI CHILDRENS HOSP MED CTR · PI HWA, VIVIAN · 2014 to 2018
$1.7MNICHD NIH HHS R01 HD078592
Abstract
By using exome sequencing and a gene matching approach, we identified de novo and inherited pathogenic variants in KDM3B in 14 unrelated individuals and three affected parents with varying degrees of intellectual disability (ID) or developmental delay (DD) and short stature. The individuals share additional phenotypic features that include feeding difficulties in infancy, joint hypermobility, and characteristic facial features such as a wide mouth, a pointed chin, long ears, and a low columella. Notably, two individuals developed cancer, acute myeloid leukemia and Hodgkin lymphoma, in childhood. KDM3B encodes for a histone demethylase and is involved in H3K9 demethylation, a crucial part of chromatin modification required for transcriptional regulation. We identified missense and truncating variants, suggesting that KDM3B haploinsufficiency is the underlying mechanism for this syndrome. By using a hybrid facial-recognition model, we show that individuals with a pathogenic variant in KDM3B have a facial gestalt, and that they show significant facial similarity compared to control individuals with ID. In conclusion, pathogenic variants in KDM3B cause a syndrome characterized by ID, short stature, and facial dysmorphism.
Indexed as
Genetic VariationBody HeightChildCraniofacial AbnormalitiesDevelopmental DisabilitiesDwarfismExomeFaceFemaleGenetic Association StudiesGerm-Line MutationHaploinsufficiencyHistonesHumansIntellectual DisabilityJumonji Domain-Containing Histone DemethylasesHistonesJumonji Domain-Containing Histone DemethylasesKDM3B protein, humancancer predispositiondevelopmental delayfacial recognitionintellectual disabilityKDM3Bleukemialymphomashort stature
Identifiers
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Read underepoch 390
Registered trials
NCT06729554ClinicalTrials.gov
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.