Nature Communications (Jul 2019)
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
- Vincenzo Salpietro,
- Christine L. Dixon,
- Hui Guo,
- Oscar D. Bello,
- Jana Vandrovcova,
- Stephanie Efthymiou,
- Reza Maroofian,
- Gali Heimer,
- Lydie Burglen,
- Stephanie Valence,
- Erin Torti,
- Moritz Hacke,
- Julia Rankin,
- Huma Tariq,
- Estelle Colin,
- Vincent Procaccio,
- Pasquale Striano,
- Kshitij Mankad,
- Andreas Lieb,
- Sharon Chen,
- Laura Pisani,
- Conceicao Bettencourt,
- Roope Männikkö,
- Andreea Manole,
- Alfredo Brusco,
- Enrico Grosso,
- Giovanni Battista Ferrero,
- Judith Armstrong-Moron,
- Sophie Gueden,
- Omer Bar-Yosef,
- Michal Tzadok,
- Kristin G. Monaghan,
- Teresa Santiago-Sim,
- Richard E. Person,
- Megan T. Cho,
- Rebecca Willaert,
- Yongjin Yoo,
- Jong-Hee Chae,
- Yingting Quan,
- Huidan Wu,
- Tianyun Wang,
- Raphael A. Bernier,
- Kun Xia,
- Alyssa Blesson,
- Mahim Jain,
- Mohammad M. Motazacker,
- Bregje Jaeger,
- Amy L. Schneider,
- Katja Boysen,
- Alison M. Muir,
- Candace T. Myers,
- Ralitza H. Gavrilova,
- Lauren Gunderson,
- Laura Schultz-Rogers,
- Eric W. Klee,
- David Dyment,
- Matthew Osmond,
- Mara Parellada,
- Cloe Llorente,
- Javier Gonzalez-Peñas,
- Angel Carracedo,
- Arie Van Haeringen,
- Claudia Ruivenkamp,
- Caroline Nava,
- Delphine Heron,
- Rosaria Nardello,
- Michele Iacomino,
- Carlo Minetti,
- Aldo Skabar,
- Antonella Fabretto,
- SYNAPS Study Group,
- Miquel Raspall-Chaure,
- Michael Chez,
- Anne Tsai,
- Emily Fassi,
- Marwan Shinawi,
- John N. Constantino,
- Rita De Zorzi,
- Sara Fortuna,
- Fernando Kok,
- Boris Keren,
- Dominique Bonneau,
- Murim Choi,
- Bruria Benzeev,
- Federico Zara,
- Heather C. Mefford,
- Ingrid E. Scheffer,
- Jill Clayton-Smith,
- Alfons Macaya,
- James E. Rothman,
- Evan E. Eichler,
- Dimitri M. Kullmann,
- Henry Houlden
Affiliations
- Vincenzo Salpietro
- Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology
- Christine L. Dixon
- Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology
- Hui Guo
- Department of Genome Sciences, University of Washington School of Medicine
- Oscar D. Bello
- Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology
- Jana Vandrovcova
- Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology
- Stephanie Efthymiou
- Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology
- Reza Maroofian
- Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology
- Gali Heimer
- Pediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University
- Lydie Burglen
- Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau
- Stephanie Valence
- Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Service de Neurologie Pédiatrique, APHP, Hôpital Trousseau
- Erin Torti
- GeneDx
- Moritz Hacke
- Biochemistry Center, Heidelberg University
- Julia Rankin
- Royal Devon and Exeter NHS Foundation Trust
- Huma Tariq
- Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology
- Estelle Colin
- Department of Biochemistry and Genetics, University Hospital
- Vincent Procaccio
- Department of Biochemistry and Genetics, University Hospital
- Pasquale Striano
- Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini”
- Kshitij Mankad
- Great Ormond Street Hospital for Children
- Andreas Lieb
- Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology
- Sharon Chen
- Division of Medical Genetics, Northwell Health/Hofstra University SOM
- Laura Pisani
- Division of Medical Genetics, Northwell Health/Hofstra University SOM
- Conceicao Bettencourt
- Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology
- Roope Männikkö
- Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology
- Andreea Manole
- Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology
- Alfredo Brusco
- Department of Medical Sciences, Medical Genetics Unit, University of Torino
- Enrico Grosso
- Department of Medical Sciences, Medical Genetics Unit, University of Torino
- Giovanni Battista Ferrero
- Department of Public Health and Pediatrics, University of Torino
- Judith Armstrong-Moron
- Unit of Medical and Molecular Genetics, University Hospital Sant Joan de Deu Barcelona
- Sophie Gueden
- Unit of Neuropediatrics, University Hospital
- Omer Bar-Yosef
- Pediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University
- Michal Tzadok
- Pediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University
- Kristin G. Monaghan
- GeneDx
- Teresa Santiago-Sim
- GeneDx
- Richard E. Person
- GeneDx
- Megan T. Cho
- GeneDx
- Rebecca Willaert
- GeneDx
- Yongjin Yoo
- Department of Biomedical Sciences, Seoul National University
- Jong-Hee Chae
- Department of Pediatrics, Seoul National University
- Yingting Quan
- Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
- Huidan Wu
- Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
- Tianyun Wang
- Department of Genome Sciences, University of Washington School of Medicine
- Raphael A. Bernier
- Department of Psychiatry, University of Washington
- Kun Xia
- Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
- Alyssa Blesson
- Center for Autism and Related Disorders, Kennedy Krieger Institute
- Mahim Jain
- Center for Autism and Related Disorders, Kennedy Krieger Institute
- Mohammad M. Motazacker
- Department of Clinical Genetics, University of Amsterdam
- Bregje Jaeger
- Department of Pediatric Neurology, Amsterdam UMC
- Amy L. Schneider
- Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne
- Katja Boysen
- Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne
- Alison M. Muir
- Department of Pediatrics, University of Washington
- Candace T. Myers
- Department of Pediatrics, Division of Genetic Medicine, University of Washington
- Ralitza H. Gavrilova
- Department of Clinical Genomics, Mayo Clinic
- Lauren Gunderson
- Department of Clinical Genomics, Mayo Clinic
- Laura Schultz-Rogers
- Department of Clinical Genomics, Mayo Clinic
- Eric W. Klee
- Department of Clinical Genomics, Mayo Clinic
- David Dyment
- Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa
- Matthew Osmond
- Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa
- Mara Parellada
- Child and Adolescent Psychiatry Department, Hospital General Universitario Gregorio Marañón, School of Medicine, Universidad Complutense, IiSGM, CIBERSAM
- Cloe Llorente
- Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Maranon, Universidad Complutense, CIBERSAM
- Javier Gonzalez-Peñas
- Hospital Gregorio Maranon, IiSGM, School of Medicine, Calle Dr Esquerdo, 46
- Angel Carracedo
- Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), CIMUS, Universidade de Santiago de Compostela
- Arie Van Haeringen
- Department of Clinical Genetics, Leiden University Medical Center
- Claudia Ruivenkamp
- Department of Clinical Genetics, Leiden University Medical Center
- Caroline Nava
- Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière
- Delphine Heron
- Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière
- Rosaria Nardello
- Department of Health Promotion,Mother and Child Care, Internal Medicine and Medical Specialities “G. D’Alessandro”, University of Palermo
- Michele Iacomino
- Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto “Giannina Gaslini”
- Carlo Minetti
- Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini”
- Aldo Skabar
- Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, University of Trieste
- Antonella Fabretto
- Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, University of Trieste
- SYNAPS Study Group
- Department of Pediatric Neurology, University Hospital Vall d’Hebron, Universitat Autònoma de Barcelona
- Miquel Raspall-Chaure
- Department of Pediatric Neurology, University Hospital Vall d’Hebron, Universitat Autònoma de Barcelona
- Michael Chez
- Neuroscience Medical Group, 1625 Stockton Boulevard, Suite 104
- Anne Tsai
- Department of Genetics and Inherited Metabolic diseases, Children’s Hospital Colorado
- Emily Fassi
- Department of Pediatrics, Washington University School of Medicine
- Marwan Shinawi
- Department of Pediatrics, Washington University School of Medicine
- John N. Constantino
- William Greenleaf Eliot Division of Child & Adolescent Psychiatry, Department of Psychiatry, Washington University School of Medicine
- Rita De Zorzi
- Department of Chemical and Pharmaceutical Sciences, University of Trieste
- Sara Fortuna
- Department of Chemical and Pharmaceutical Sciences, University of Trieste
- Fernando Kok
- Neurogenetics Unit, Department of Neurology, University of Sao Paulo
- Boris Keren
- Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière
- Dominique Bonneau
- Department of Biochemistry and Genetics, University Hospital
- Murim Choi
- Department of Biomedical Sciences, Seoul National University
- Bruria Benzeev
- Pediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University
- Federico Zara
- Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto “Giannina Gaslini”
- Heather C. Mefford
- Department of Pediatrics, University of Washington
- Ingrid E. Scheffer
- Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne
- Jill Clayton-Smith
- Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust
- Alfons Macaya
- Department of Pediatric Neurology, University Hospital Vall d’Hebron, Universitat Autònoma de Barcelona
- James E. Rothman
- Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology
- Evan E. Eichler
- Department of Genome Sciences, University of Washington School of Medicine
- Dimitri M. Kullmann
- Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology
- Henry Houlden
- Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology
- DOI
- https://doi.org/10.1038/s41467-019-10910-w
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 16
Abstract
Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous de novo mutations in the GRIA2 gene in 28 individuals with intellectual disability and neurodevelopmental abnormalities associated with reduced Ca2+ transport and AMPAR currents.”
