ArticleAmerican journal of human genetics2024
Role of CAMK2D in neurodevelopment and associated conditions.
Erratum issuedOpen access · bronzeAbstract read
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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. An erratum has been issued. Cited by 20 papers.
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20citing papers in PubMed
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20 citing papers in PubMed, 32 citations in OpenAlex.
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- A domain-swapped CaMKII conformation facilitates linker-mediated allosteric regulation.Nature communications · 2025Article
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- Nfe2l1 dysfunction alters Parkinson's disease-related gene expression and impairs neuronal differentiation under ubiquitin stress in neuronal differentiated P19 Cells.Scientific reports · 2025Article
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- GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.medRxiv : the preprint server for health sciences · 2024Article
- Ligand-induced CaMKIIα hub Trp403 flip, hub domain stacking, and modulation of kinase activity.Protein science : a publication of the Protein Society · 2024Article
- Fast and deep phosphoproteome analysis with the Orbitrap Astral mass spectrometer.Nature communications · 2024Article
- GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.Research square · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
42 authors at 20 institutions in 8 countries.
Pomme M F RigterDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands.
Charlotte de KoninkENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands.
Matthew J DunnDepartment of Biochemistry and Molecular Biology, University of Massachusetts, Amherst, MA 01003, USA.
Martina Proietti OnoriENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands.
Jennifer B HumbersonPediatric Specialty Care, University of Virginia Health, Charlottesville, VA 22903, USA.
Matthew ThomasDivision of Genetics, Department of Pediatrics, University of Virginia Children's, Charlottesville, VA 22903, USA.
Caitlin BarnesDivision of Genetics, Department of Pediatrics, University of Virginia Children's, Charlottesville, VA 22903, USA.
Carlos E PradaDepartment of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Fundacion Cardiovascular de Colombia, Bucaramanga, Colombia.
K Nicole WeaverDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Thomas D RyanDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Oana CaluseriuDepartment of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada; Stollery Children's Hospital, Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2B7, Canada.
Jennifer ConwayStollery Children's Hospital, Department of Pediatrics, Division of Pediatric Cardiology, University of Alberta, Edmonton, AB T6G 2B7, Canada.
Emily CalamaroDepartment of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.
Chin-To FongDepartment of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.
Wim WuytsDepartment of Medical Genetics, University of Antwerp and University Hospital of Antwerp, 2650 Edegem, Belgium.
Marije MeuwissenDepartment of Medical Genetics, University of Antwerp and University Hospital of Antwerp, 2650 Edegem, Belgium.
Eva HordijkDepartment of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands.
Carsten N JonkersDepartment of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands.
Lucas AndersonDepartment of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands.
Berfin YuseinovaDepartment of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands.
Sarah PoloniaDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands.
Diane BeysenDepartment of Paediatric Neurology, University Hospital of Antwerp, 2650 Edegem, Belgium; Department of Translational Neurosciences, University of Antwerp, 2650 Edegem, Belgium.
Zornitza StarkVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Australian Genomics, Melbourne, VIC 3052, Australia.
Elena SavvaVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Cathryn PoultonGenetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia.
Fiona McKenzieGenetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, WA 6009, Australia.
Elizabeth BhojDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Caleb P BuppCorewell Health & Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA.
Stéphane BézieauNantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
Sandra MercierNantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
Amy BlevinsGeneDx, Gaithersburg, MD 20877, USA.
Ingrid M WentzensenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Fan XiaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.
Tzung-Chien HsiehInstitute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany.
Peter M KrawitzInstitute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany.
Miriam ElbrachtInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, 52074 Aachen, Germany.
Danielle C M VeenmaENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Sophia Children's Hospital, Erasmus Medical Center, Rotterdam 3015 CN, the Netherlands.
Howard SchulmanDepartment of Neurobiology, Stanford University, School of Medicine, Stanford, CA 94305, USA; Panorama Research Institute, Sunnyvale, CA 94089, USA.
Margaret M StrattonDepartment of Biochemistry and Molecular Biology, University of Massachusetts, Amherst, MA 01003, USA.
Sébastien KüryCorewell Health & Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr.
Geeske M van WoerdenDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands. Electronic address: g.vanwoerden@erasmusmc.nl.
Erasmus MC · NLBaylor College of Medicine · USUniversity of Antwerp · BECentre National de la Recherche Scientifique · FRCincinnati Children's Hospital Medical Center · USUniversity of Alberta · CAUniversity of Bonn · DEUniversity of Massachusetts Amherst · USUniversity of Rochester · USUniversity of Virginia Children's Hospital · USVictorian Clinical Genetics Services · AUCentre Hospitalier Universitaire de Nantes · FRChildren's Hospital of Philadelphia · USHelen DeVos Children's Hospital · USKing Edward Memorial Hospital · AUNorthwestern University · USPanorama Research (United States) · USRWTH Aachen University · DEThe University of Western Australia · AUUniversity of Virginia · US
Funding
Unraveling the molecular events driven by CaMKII in Ca2+-coupled cellsR35GM145376 · NIGMS · UNIVERSITY OF MASSACHUSETTS AMHERST · PI Margaret M Stratton · 2022 to 2026
$2.1MNIGMS NIH HHS R35 GM145376
Abstract
The calcium/calmodulin-dependent protein kinase type 2 (CAMK2) family consists of four different isozymes, encoded by four different genes-CAMK2A, CAMK2B, CAMK2G, and CAMK2D-of which the first three have been associated recently with neurodevelopmental disorders. CAMK2D is one of the major CAMK2 proteins expressed in the heart and has been associated with cardiac anomalies. Although this CAMK2 isoform is also known to be one of the major CAMK2 subtypes expressed during early brain development, it has never been linked with neurodevelopmental disorders until now. Here we show that CAMK2D plays an important role in neurodevelopment not only in mice but also in humans. We identified eight individuals harboring heterozygous variants in CAMK2D who display symptoms of intellectual disability, delayed speech, behavioral problems, and dilated cardiomyopathy. The majority of the variants tested lead to a gain of function (GoF), which appears to cause both neurological problems and dilated cardiomyopathy. In contrast, loss-of-function (LoF) variants appear to induce only neurological symptoms. Together, we describe a cohort of individuals with neurodevelopmental disorders and cardiac anomalies, harboring pathogenic variants in CAMK2D, confirming an important role for the CAMK2D isozyme in both heart and brain function.
Indexed as
Calcium-Calmodulin-Dependent Protein Kinase Type 2Cardiomyopathy, DilatedIntellectual DisabilityNeurodevelopmental DisordersAnimalsHeartHumansMiceCalcium-Calmodulin-Dependent Protein Kinase Type 2CAMK2D protein, humancalcium/calmodulin-dependent protein kinase 2 deltaCAMK2Dcardiomyopathyintellectual disabilityneurodevelopment
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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.