ArticleNature communications2018
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Erratum issuedOpen access · goldAbstract read
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Article in Nature communications, 2018. 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 72 papers.
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72citing papers in PubMed
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Who cites it
72 citing papers in PubMed, 118 citations in OpenAlex.
- Transcriptomic analysis identifies immune-related clusters and PPP2R1A as a candidate gene associated with venous thromboembolism recurrence.Archives of pharmacal research · 2026Article
- An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.European journal of human genetics : EJHG · 2026Article
- Molecular Acrobats: How CHD Remodelers Shape the Genetic Playground to License Cell Identity.BioEssays : news and reviews in molecular, cellular and developmental biology · 2026Review
- Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.Genome medicine · 2026Article
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- Chromodomain helicase DNA-binding proteins and orofacial cleft.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2026Review
- New Insights into the Relation between Cognition, Behavior, and theMolecular syndromology · 2025Article
- Molecular interactions of Chd8 in mouse brain highlights a role in chromatin-associated RNA processing.bioRxiv : the preprint server for biology · 2025Article
- Genomic Investigations of Spoken and Written Language Abilities: A Guide to Advances in Approaches, Technologies, and Discovery.Journal of speech, language, and hearing research : JSLHR · 2025Review
- Dominant-negative effects of Weaver syndrome-associated EZH2 variants.Genes & development · 2025Article
- The NuRD component CHD3 promotes BMP signalling during cranial neural crest cell specification.EMBO reports · 2025Article
- Neurobehavioral profile of individuals with pathogenic variants in CHD3.European journal of human genetics : EJHG · 2025Article
- Intrinsically Disordered Regions of Zinc Finger Protein 687 in Phase Separation: A Potentially Pathogenic Driver of Paget's Disease of Bone.ACS pharmacology & translational science · 2025Review
- Article
- Two distinct phenotypes in Snijders Blok-Campeau syndrome and characterization of the behavioral phenotype in a zebrafish model.European journal of human genetics : EJHG · 2025Article
- Molecular and clinical aspects of histone-related disorders.Human genomics · 2025Review
- Snijders Blok-Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report.Reports (MDPI) · 2025Article
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- It Takes a Village of Chromatin Remodelers to Regulate rDNA Expression.International journal of molecular sciences · 2025Review
12 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
- Erratum issued
Authors and funding
80 authors at 20 institutions in 10 countries.
Lot Snijders BlokDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.ORCID http://orcid.org/0000-0002-9825-3625
Justine RousseauCHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.
Joanna TwistNational Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.
Sophie EhresmannCHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.
Motoki TakakuNational Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.
Hanka VenselaarCentre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.
Lance H RodanDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
Catherine B NowakDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
Jessica DouglasDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
Kathryn J SwobodaDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Marcie A SteevesDepartment of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.
Inderneel SahaiDepartment of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.
Connie T R M StumpelDepartment of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.
Alexander P A StegmannDepartment of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.
Patricia WheelerNemours Childrens Clinic, Orlando, FL 32827, USA.
Marcia WillingDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Elise FialaDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Aaina KochharValley Children's Hospital, Madera, CA 93636, USA.
William T GibsonBritish Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.
Ana S A CohenBritish Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.ORCID http://orcid.org/0000-0002-6353-6350
Ruky AgbahovbeBritish Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.
A Micheil InnesDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.ORCID http://orcid.org/0000-0001-9881-5467
P Y Billie AuDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.
Julia RankinDepartment of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust (Heavitree), Exeter, EX2 5DW, UK.
Ilse J AndersonDivision of Genetics, Department of Medicine, University of Tennessee Medical Center, Knoxville, TN 37920, USA.
Steven A SkinnerGreenwood Genetic Center, Greenwood, SC 29646, USA.
Raymond J LouieGreenwood Genetic Center, Greenwood, SC 29646, USA.
Hannah E WarrenGreenwood Genetic Center, Greenwood, SC 29646, USA.
Alexandra AfenjarGRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris ; Department of Medical Genetics and Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.
Boris KerenAP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.
Caroline NavaAP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.
Julien BurattiAP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.
Arnaud IsapofGRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department Child Neurology and Reference Center for Neuromuscular Diseases "Nord/Est/Ile-de-France", FILNEMUS, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.
Diana RodriguezGRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department of Child Neurology and National Reference Center for Neurogenetic Disorders, Armand Trousseau Hospital, GHUEP, AP-HP, INSERM U1141, 75012, Paris, France.
Raymond LewandowskiClinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA 23298, USA.
Jennifer PropstClinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA 23298, USA.
Ton van EssenClinical Genetics Department, University Medical Center Groningen, Groningen, 9700RB, The Netherlands.
Murim ChoiDepartment of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.
Sangmoon LeeDepartment of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.
Jong H ChaeDepartment of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, 08826, Republic of Korea.
Susan PriceOxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK.
Rhonda E SchnurGeneDx, Gaithersburg, MD 20877, USA.
Ganka DouglasGeneDx, Gaithersburg, MD 20877, USA.
Ingrid M WentzensenGeneDx, Gaithersburg, MD 20877, USA.
Christiane ZweierInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.
André ReisInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.
Martin G BialerNorthwell Health, Division of Medical Genetics and Genomics, Great Neck, NY 11021, USA.
Christine MooreNorthwell Health, Division of Medical Genetics and Genomics, Great Neck, NY 11021, USA.
Marije KoopmansDepartment of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.
Eva H BrilstraDepartment of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.
Glen R MonroeDepartment of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.
Koen L I van GassenDepartment of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.
Ellen van BinsbergenDepartment of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.
Ruth Newbury-EcobUniversity Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.
Lucy BownassUniversity Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.
Ingrid BaderDepartment of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, A-5020, Austria.
Johannes A MayrDepartment of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.
Saskia B WortmannDepartment of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.
Kathy J JakielskiCommunication Sciences and Disorders, Augustana College, Rock Island, IL 61201, USA.
Edythe A StrandDepartment of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
Katja KlothInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.
Tatjana BierhalsInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.
DDD study
John D RobertsNational Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.
Robert M PetrovichNational Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.
Shinichi MachidaWaseda University, Tokyo, 169-8050, Japan.
Hitoshi KurumizakaWaseda University, Tokyo, 169-8050, Japan.ORCID http://orcid.org/0000-0001-7412-3722
Stefan LelieveldDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.
Rolph PfundtDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.
Sandra JansenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.
Pelagia DeriziotisLanguage and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands.
Laurence FaivreEquipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, 21070, France.
Julien ThevenonEquipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, 21070, France.
Mirna AssoumEquipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, 21070, France.
Lawrence ShribergWaisman Center, Phonology Project, Madison, WI 53705-2280, USA.
Tjitske KleefstraDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.
Han G BrunnerDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.
Paul A WadeNational Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.ORCID http://orcid.org/0000-0002-6042-357X
Simon E FisherLanguage and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands. simon.fisher@mpi.nl.ORCID http://orcid.org/0000-0002-3132-1996
Philippe M CampeauCHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada. p.campeau@umontreal.ca.ORCID http://orcid.org/0000-0001-9713-7107
Wellcome Sanger Institute · GBGlan Clwyd Hospital · GBChapel Allerton Hospital · GBGuy's Hospital · GBBelfast Health and Social Care Trust · GBManchester Academic Health Science Centre · GBNottingham University Hospitals NHS Trust · GBLondon North West Healthcare NHS Trust · GBSalisbury District Hospital · GBUniversity of Liverpool · GBGreat Ormond Street Hospital for Children NHS Foundation Trust · GBNHS Greater Glasgow and Clyde · GBRadboud University Nijmegen · NLRoyal Devon & Exeter NHS Foundation Trust · GBCambridge University Hospitals NHS Foundation Trust · GBSt George's, University of London · GBWestern General Hospital · GBChurchill Hospital · GBUniversity Hospitals Bristol NHS Foundation Trust · GBNewcastle upon Tyne Hospitals NHS Foundation Trust · GB
Funding
Eukaryotic Transcriptional RegulationZIAES101965 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI WADE, PAUL A · 2009 to 2025
$40.9MProtein Expression FacilityZICES102487 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI PETROVICH, ROBERT · 2009 to 2025
$23.9MSTUDIES IN DEVELOPMENTAL PHONOLOGICAL DISORDERSR01DC000496 · NIDCD · UNIVERSITY OF WISCONSIN-MADISON · PI SHRIBERG, LAWRENCE D · 1988 to 2017
$9.9MWaisman Intellectual and Developmental Disabilities Research Center Down Syndrome RegistryU54HD090256 · NICHD · UNIVERSITY OF WISCONSIN-MADISON · PI MESSING, ALBEE · 2016 to 2020
$6.0MNICHD NIH HHS U54 HD090256NIDCD NIH HHS R01 DC000496Wellcome Trust
Abstract
Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders. To gain a comprehensive view of features associated with disruption of this gene, we use a genotype-driven approach, collecting and characterizing 35 individuals with de novo CHD3 mutations and overlapping phenotypes. Most mutations cluster within the ATPase/helicase domain of the encoded protein. Modeling their impact on the three-dimensional structure demonstrates disturbance of critical binding and interaction motifs. Experimental assays with six of the identified mutations show that a subset directly affects ATPase activity, and all but one yield alterations in chromatin remodeling. We implicate de novo CHD3 mutations in a syndrome characterized by intellectual disability, macrocephaly, and impaired speech and language.
Indexed as
Mutation, MissenseAdenosine TriphosphatasesChild, PreschoolChromatin Assembly and DisassemblyDevelopmental DisabilitiesDNA HelicasesFemaleGene ExpressionGenotypeHEK293 CellsHumansIntellectual DisabilityLanguage DisordersMaleMegalencephalyMi-2 Nucleosome Remodeling and Deacetylase ComplexAdenosine TriphosphatasesCHD3 protein, humanDNA HelicasesMi-2 Nucleosome Remodeling and Deacetylase Complex
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