Nature Communications (Nov 2018)
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
- Lot Snijders Blok,
- Justine Rousseau,
- Joanna Twist,
- Sophie Ehresmann,
- Motoki Takaku,
- Hanka Venselaar,
- Lance H. Rodan,
- Catherine B. Nowak,
- Jessica Douglas,
- Kathryn J. Swoboda,
- Marcie A. Steeves,
- Inderneel Sahai,
- Connie T. R. M. Stumpel,
- Alexander P. A. Stegmann,
- Patricia Wheeler,
- Marcia Willing,
- Elise Fiala,
- Aaina Kochhar,
- William T. Gibson,
- Ana S. A. Cohen,
- Ruky Agbahovbe,
- A. Micheil Innes,
- P. Y. Billie Au,
- Julia Rankin,
- Ilse J. Anderson,
- Steven A. Skinner,
- Raymond J. Louie,
- Hannah E. Warren,
- Alexandra Afenjar,
- Boris Keren,
- Caroline Nava,
- Julien Buratti,
- Arnaud Isapof,
- Diana Rodriguez,
- Raymond Lewandowski,
- Jennifer Propst,
- Ton van Essen,
- Murim Choi,
- Sangmoon Lee,
- Jong H. Chae,
- Susan Price,
- Rhonda E. Schnur,
- Ganka Douglas,
- Ingrid M. Wentzensen,
- Christiane Zweier,
- André Reis,
- Martin G. Bialer,
- Christine Moore,
- Marije Koopmans,
- Eva H. Brilstra,
- Glen R. Monroe,
- Koen L. I. van Gassen,
- Ellen van Binsbergen,
- Ruth Newbury-Ecob,
- Lucy Bownass,
- Ingrid Bader,
- Johannes A. Mayr,
- Saskia B. Wortmann,
- Kathy J. Jakielski,
- Edythe A. Strand,
- Katja Kloth,
- Tatjana Bierhals,
- The DDD study,
- John D. Roberts,
- Robert M. Petrovich,
- Shinichi Machida,
- Hitoshi Kurumizaka,
- Stefan Lelieveld,
- Rolph Pfundt,
- Sandra Jansen,
- Pelagia Deriziotis,
- Laurence Faivre,
- Julien Thevenon,
- Mirna Assoum,
- Lawrence Shriberg,
- Tjitske Kleefstra,
- Han G. Brunner,
- Paul A. Wade,
- Simon E. Fisher,
- Philippe M. Campeau
Affiliations
- Lot Snijders Blok
- Department of Human Genetics, Radboud University Medical Center
- Justine Rousseau
- CHU Sainte-Justine Research Center
- Joanna Twist
- National Institute of Environmental Health Sciences
- Sophie Ehresmann
- CHU Sainte-Justine Research Center
- Motoki Takaku
- National Institute of Environmental Health Sciences
- Hanka Venselaar
- Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center
- Lance H. Rodan
- Division of Genetics and Genomics, Boston Children’s Hospital
- Catherine B. Nowak
- Division of Genetics and Genomics, Boston Children’s Hospital
- Jessica Douglas
- Division of Genetics and Genomics, Boston Children’s Hospital
- Kathryn J. Swoboda
- Department of Neurology, Massachusetts General Hospital and Harvard Medical School
- Marcie A. Steeves
- Department of Medical Genetics, Massachusetts General Hospital
- Inderneel Sahai
- Department of Medical Genetics, Massachusetts General Hospital
- Connie T. R. M. Stumpel
- Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center
- Alexander P. A. Stegmann
- Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center
- Patricia Wheeler
- Nemours Childrens Clinic
- Marcia Willing
- Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine
- Elise Fiala
- Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine
- Aaina Kochhar
- Valley Children’s Hospital
- William T. Gibson
- British Columbia Children’s Hospital Research Institute
- Ana S. A. Cohen
- British Columbia Children’s Hospital Research Institute
- Ruky Agbahovbe
- British Columbia Children’s Hospital Research Institute
- A. Micheil Innes
- Department of Medical Genetics and Alberta Children’s Hospital Research Institute, Cumming School of Medicine, University of Calgary
- P. Y. Billie Au
- Department of Medical Genetics and Alberta Children’s Hospital Research Institute, Cumming School of Medicine, University of Calgary
- Julia Rankin
- Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust (Heavitree)
- Ilse J. Anderson
- Division of Genetics, Department of Medicine, University of Tennessee Medical Center
- Steven A. Skinner
- Greenwood Genetic Center
- Raymond J. Louie
- Greenwood Genetic Center
- Hannah E. Warren
- Greenwood Genetic Center
- Alexandra Afenjar
- GRC 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
- Boris Keren
- AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique
- Caroline Nava
- AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique
- Julien Buratti
- AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique
- Arnaud Isapof
- GRC 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
- Diana Rodriguez
- GRC 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
- Raymond Lewandowski
- Clinical Genetics Division, Virginia Commonwealth University Health System
- Jennifer Propst
- Clinical Genetics Division, Virginia Commonwealth University Health System
- Ton van Essen
- Clinical Genetics Department, University Medical Center Groningen
- Murim Choi
- Department of Biomedical Sciences, Seoul National University College of Medicine
- Sangmoon Lee
- Department of Biomedical Sciences, Seoul National University College of Medicine
- Jong H. Chae
- Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children’s Hospital
- Susan Price
- Oxford University Hospitals NHS Foundation Trust
- Rhonda E. Schnur
- GeneDx
- Ganka Douglas
- GeneDx
- Ingrid M. Wentzensen
- GeneDx
- Christiane Zweier
- Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg
- André Reis
- Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg
- Martin G. Bialer
- Northwell Health, Division of Medical Genetics and Genomics
- Christine Moore
- Northwell Health, Division of Medical Genetics and Genomics
- Marije Koopmans
- Department of Genetics, University Medical Center Utrecht, Utrecht University
- Eva H. Brilstra
- Department of Genetics, University Medical Center Utrecht, Utrecht University
- Glen R. Monroe
- Department of Genetics, University Medical Center Utrecht, Utrecht University
- Koen L. I. van Gassen
- Department of Genetics, University Medical Center Utrecht, Utrecht University
- Ellen van Binsbergen
- Department of Genetics, University Medical Center Utrecht, Utrecht University
- Ruth Newbury-Ecob
- University Hospitals Bristol, Department of Clinical Genetics, St Michael’s Hospital
- Lucy Bownass
- University Hospitals Bristol, Department of Clinical Genetics, St Michael’s Hospital
- Ingrid Bader
- Department of Clinical Genetics, University Children’s Hospital, Paracelsus Medical University
- Johannes A. Mayr
- Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University
- Saskia B. Wortmann
- Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University
- Kathy J. Jakielski
- Communication Sciences and Disorders, Augustana College
- Edythe A. Strand
- Department of Neurology, Mayo Clinic
- Katja Kloth
- Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
- Tatjana Bierhals
- Institute of Human Genetics, University Medical Center Hamburg-Eppendorf
- The DDD study
- John D. Roberts
- National Institute of Environmental Health Sciences
- Robert M. Petrovich
- National Institute of Environmental Health Sciences
- Shinichi Machida
- Waseda University
- Hitoshi Kurumizaka
- Waseda University
- Stefan Lelieveld
- Department of Human Genetics, Radboud University Medical Center
- Rolph Pfundt
- Department of Human Genetics, Radboud University Medical Center
- Sandra Jansen
- Department of Human Genetics, Radboud University Medical Center
- Pelagia Deriziotis
- Language and Genetics Department, Max Planck Institute for Psycholinguistics
- Laurence Faivre
- Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté
- Julien Thevenon
- Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté
- Mirna Assoum
- Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté
- Lawrence Shriberg
- Waisman Center, Phonology Project
- Tjitske Kleefstra
- Department of Human Genetics, Radboud University Medical Center
- Han G. Brunner
- Department of Human Genetics, Radboud University Medical Center
- Paul A. Wade
- National Institute of Environmental Health Sciences
- Simon E. Fisher
- Language and Genetics Department, Max Planck Institute for Psycholinguistics
- Philippe M. Campeau
- CHU Sainte-Justine Research Center
- DOI
- https://doi.org/10.1038/s41467-018-06014-6
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 12
Abstract
Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with macrocephaly and speech and language impairment.
