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Original research
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Authors

  • Audrey Schalk Institut de génétique médicale d’Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France PubMed articlesGoogle scholar articles
  • Margot A Cousin Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USACenter for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA PubMed articlesGoogle scholar articles
  • Nikita R Dsouza Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA PubMed articlesGoogle scholar articles
  • Thomas D Challman Autism & Developmental Medicine Institute, Geisinger-Lewistown Hospital, Lewistown, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Karen E Wain Autism & Developmental Medicine Institute, Geisinger-Lewistown Hospital, Lewistown, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Zoe Powis Department of Clinical Genomics, Ambry Genetics Corp, Aliso Viejo, California, USA PubMed articlesGoogle scholar articles
  • Kelly Minks Department of Clinical Genomics, Ambry Genetics Corp, Aliso Viejo, California, USA PubMed articlesGoogle scholar articles
  • Aurélien Trimouille Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, FranceMaladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France PubMed articlesGoogle scholar articles
  • Eulalie Lasseaux Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France PubMed articlesGoogle scholar articles
  • Didier Lacombe Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, FranceMaladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France PubMed articlesGoogle scholar articles
  • Chloé Angelini Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, FranceMaladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France PubMed articlesGoogle scholar articles
  • Vincent Michaud Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, FranceMaladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France PubMed articlesGoogle scholar articles
  • Julien Van-Gils Département de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France PubMed articlesGoogle scholar articles
  • Nino Spataro Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d’Investigació i Innovació Parc Taulí, Sabadell, Catalunya, Spain PubMed articlesGoogle scholar articles
  • Anna Ruiz Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d’Investigació i Innovació Parc Taulí, Sabadell, Catalunya, Spain PubMed articlesGoogle scholar articles
  • Elizabeth Gabau Paediatric Unit, Parc Tauli Foundation–UAB University Institute, Sabadell, Catalunya, Spain PubMed articlesGoogle scholar articles
  • Elliot Stolerman 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA PubMed articlesGoogle scholar articles
  • Camerun Washington 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA PubMed articlesGoogle scholar articles
  • Ray Louie 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA PubMed articlesGoogle scholar articles
  • Brendan C Lanpher Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USADepartment of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA PubMed articlesGoogle scholar articles
  • Jennifer L Kemppainen Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USADepartment of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA PubMed articlesGoogle scholar articles
  • Micheil Innes Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada PubMed articlesGoogle scholar articles
  • Frank Kooy Center Medical Genetics, University Hospital Antwerp, Antwerp, Belgium PubMed articlesGoogle scholar articles
  • Marije Meuwissen Center Medical Genetics, University Hospital Antwerp, Antwerp, Belgium PubMed articlesGoogle scholar articles
  • Alice Goldenberg Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France PubMed articlesGoogle scholar articles
  • Francois Lecoquierre Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France PubMed articlesGoogle scholar articles
  • Gabriella Vera Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France PubMed articlesGoogle scholar articles
  • Karin E M Diderich Erasmus Medical Center Department of Clinical Genetics, Rotterdam, Netherlands PubMed articlesGoogle scholar articles
  • Beth Sheidley Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Christelle Moufawad El Achkar Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Meredith Park Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Fadi F Hamdan Division of Medical Genetics, Department of Pediatrics, Saint Justine Hospital, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Jacques L Michaud Division of Medical Genetics, Department of Pediatrics, Saint Justine Hospital, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Ann J Lewis Pediatric Neurology, Kaiser Permanente Santa Clara Medical Center, Santa Clara, California, USA PubMed articlesGoogle scholar articles
  • Christiane Zweier Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, GermanyDepartment of Human Genetics, Inselspital University Hospital Bern, Bern, BE, Switzerland PubMed articlesGoogle scholar articles
  • André Reis Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany PubMed articlesGoogle scholar articles
  • Matias Wagner Institute of Human Genetics, Technische Universitat Munchen, Munchen, Bayern, GermanyInstitute of Neurogenomics, Helmholtz Zentrum Munchen Deutsches Forschungszentrum fur Umwelt und Gesundheit, Neuherberg, Bayern, Germany PubMed articlesGoogle scholar articles
  • Heike Weigand Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr von Hauner Children's Hospital, Munich University Hospital (Ludwig Maximilians University), Munchen, Bayern, Germany PubMed articlesGoogle scholar articles
  • Hubert Journel Service de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France PubMed articlesGoogle scholar articles
  • Boris Keren Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Hôpital Universitaire Pitié Salpêtrière, Paris, Île-de-France, FranceINSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, Paris, Île-de-France, France PubMed articlesGoogle scholar articles
  • Sandrine Passemard APHP, Hopital Universitaire Robert-Debre Departement de genetique, Paris, Île-de-France, FranceNeuroDiderot, UMR1141, INSERM, Paris, France PubMed articlesGoogle scholar articles
  • Cyril Mignot Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Hôpital Universitaire Pitié Salpêtrière, Paris, Île-de-France, FranceINSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, Paris, Île-de-France, France PubMed articlesGoogle scholar articles
  • Koen van Gassen Department of Genetics, University Medical Centre Utrecht Center for Molecular Medicine, Utrecht, The Netherlands PubMed articlesGoogle scholar articles
  • Eva H Brilstra Department of Genetics, University Medical Centre Utrecht Center for Molecular Medicine, Utrecht, The Netherlands PubMed articlesGoogle scholar articles
  • Gina Itzikowitz Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, Western Cape, South Africa PubMed articlesGoogle scholar articles
  • Emily O'Heir Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute for Genome Research, Cambridge, Massachusetts, USADivision of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Jake Allen Stanley Center for Psychiatric Research, Broad Institute Stanley Center for Psychiatric Research, Cambridge, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Kirsten A Donald Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, Western Cape, South AfricaNeuroscience Institute, University of Cape Town, Rondebosch, Western Cape, South Africa PubMed articlesGoogle scholar articles
  • Bruce Richard Korf Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA PubMed articlesGoogle scholar articles
  • Tammi Skelton Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA PubMed articlesGoogle scholar articles
  • Michelle Thompson Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USAHudsonAlpha Institute, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA PubMed articlesGoogle scholar articles
  • Nathaniel H Robin Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA PubMed articlesGoogle scholar articles
  • Natasha L Rudy Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA PubMed articlesGoogle scholar articles
  • William B Dobyns Department of Pediatrics (Genetics) and Neurology, University of Washington, Seattle Children's Research Institute, Seattle, Washington, USA PubMed articlesGoogle scholar articles
  • Kimberly Foss Department of Pediatrics (Genetics) and Neurology, University of Washington, Seattle Children's Research Institute, Seattle, Washington, USA PubMed articlesGoogle scholar articles
  • Yuri Alexander Zarate Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA PubMed articlesGoogle scholar articles
  • Katherine A Bosanko Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA PubMed articlesGoogle scholar articles
  • Yves Alembik Institut de génétique médicale d’Alsace (IGMA), Service de Génétique Médicale, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France PubMed articlesGoogle scholar articles
  • Benjamin Durand Institut de génétique médicale d’Alsace (IGMA), Service de Génétique Médicale, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France PubMed articlesGoogle scholar articles
  • Frederic Tran Mau-them Institut de génétique médicale d’Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France PubMed articlesGoogle scholar articles
  • Emmanuelle Ranza Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland PubMed articlesGoogle scholar articles
  • Xavier Blanc Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland PubMed articlesGoogle scholar articles
  • Stylianos E Antonarakis Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland PubMed articlesGoogle scholar articles
  • Kirsty McWalter GeneDx, GeneDx, Gaithersburg, Maryland, USA PubMed articlesGoogle scholar articles
  • Erin Torti GeneDx, GeneDx, Gaithersburg, Maryland, USA PubMed articlesGoogle scholar articles
  • Francisca Millan GeneDx, GeneDx, Gaithersburg, Maryland, USA PubMed articlesGoogle scholar articles
  • Amy Dameron GeneDx, GeneDx, Gaithersburg, Maryland, USA PubMed articlesGoogle scholar articles
  • Mari Tokita GeneDx, GeneDx, Gaithersburg, Maryland, USA PubMed articlesGoogle scholar articles
  • Michael T Zimmermann Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USADepartment of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin, USA PubMed articlesGoogle scholar articles
  • Eric W Klee Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USACenter for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USADepartment of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA PubMed articlesGoogle scholar articles
  • Amelie Piton Neurogenetics and Translational Medecine, Institut of Genetics and Molecular and Cellular Biology, Illkirch-Grafenstaden, Grand Est, France PubMed articlesGoogle scholar articles
  • Benedicte Gerard Institut de génétique médicale d’Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France PubMed articlesGoogle scholar articles
  1. Correspondence to Amelie Piton, Neurogenetics and Translational Medicine, Institut of Genetics and Molecular and Cellular Biology, Illkirch-Grafenstaden, Grand Est, France; piton{at}igbmc.fr
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Citation

Schalk A, Cousin MA, Dsouza NR, et al
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Publication history

  • Received January 28, 2021
  • Accepted November 9, 2021
  • First published December 15, 2021.

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