AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
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+ transpor...
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2019-07-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-019-10910-w |
| _version_ | 1828959073919303680 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Vincenzo Salpietro |
| collection | DOAJ |
| description | 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.” |
| first_indexed | 2024-12-14T09:00:52Z |
| format | Article |
| id | doaj.art-67fdcf82e84544e095b6c7c81e0bd8ff |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-12-14T09:00:52Z |
| publishDate | 2019-07-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-67fdcf82e84544e095b6c7c81e0bd8ff2022-12-21T23:08:49ZengNature PortfolioNature Communications2041-17232019-07-0110111610.1038/s41467-019-10910-wAMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disordersVincenzo Salpietro0Christine L. Dixon1Hui Guo2Oscar D. Bello3Jana Vandrovcova4Stephanie Efthymiou5Reza Maroofian6Gali Heimer7Lydie Burglen8Stephanie Valence9Erin Torti10Moritz Hacke11Julia Rankin12Huma Tariq13Estelle Colin14Vincent Procaccio15Pasquale Striano16Kshitij Mankad17Andreas Lieb18Sharon Chen19Laura Pisani20Conceicao Bettencourt21Roope Männikkö22Andreea Manole23Alfredo Brusco24Enrico Grosso25Giovanni Battista Ferrero26Judith Armstrong-Moron27Sophie Gueden28Omer Bar-Yosef29Michal Tzadok30Kristin G. Monaghan31Teresa Santiago-Sim32Richard E. Person33Megan T. Cho34Rebecca Willaert35Yongjin Yoo36Jong-Hee Chae37Yingting Quan38Huidan Wu39Tianyun Wang40Raphael A. Bernier41Kun Xia42Alyssa Blesson43Mahim Jain44Mohammad M. Motazacker45Bregje Jaeger46Amy L. Schneider47Katja Boysen48Alison M. Muir49Candace T. Myers50Ralitza H. Gavrilova51Lauren Gunderson52Laura Schultz-Rogers53Eric W. Klee54David Dyment55Matthew Osmond56Mara Parellada57Cloe Llorente58Javier Gonzalez-Peñas59Angel Carracedo60Arie Van Haeringen61Claudia Ruivenkamp62Caroline Nava63Delphine Heron64Rosaria Nardello65Michele Iacomino66Carlo Minetti67Aldo Skabar68Antonella Fabretto69SYNAPS Study Group70Miquel Raspall-Chaure71Michael Chez72Anne Tsai73Emily Fassi74Marwan Shinawi75John N. Constantino76Rita De Zorzi77Sara Fortuna78Fernando Kok79Boris Keren80Dominique Bonneau81Murim Choi82Bruria Benzeev83Federico Zara84Heather C. Mefford85Ingrid E. Scheffer86Jill Clayton-Smith87Alfons Macaya88James E. Rothman89Evan E. Eichler90Dimitri M. Kullmann91Henry Houlden92Department of Neuromuscular Disorders, UCL Queen Square Institute of NeurologyDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of NeurologyDepartment of Genome Sciences, University of Washington School of MedicineDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of NeurologyDepartment of Neuromuscular Disorders, UCL Queen Square Institute of NeurologyDepartment of Neuromuscular Disorders, UCL Queen Square Institute of NeurologyDepartment of Neuromuscular Disorders, UCL Queen Square Institute of NeurologyPediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv UniversityCentre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, APHP, Hôpital TrousseauCentre de Référence des Malformations et Maladies Congénitales du Cervelet, Service de Neurologie Pédiatrique, APHP, Hôpital TrousseauGeneDxBiochemistry Center, Heidelberg UniversityRoyal Devon and Exeter NHS Foundation TrustDepartment of Neuromuscular Disorders, UCL Queen Square Institute of NeurologyDepartment of Biochemistry and Genetics, University HospitalDepartment of Biochemistry and Genetics, University HospitalPediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini”Great Ormond Street Hospital for ChildrenDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of NeurologyDivision of Medical Genetics, Northwell Health/Hofstra University SOMDivision of Medical Genetics, Northwell Health/Hofstra University SOMDepartment of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of NeurologyDepartment of Neuromuscular Disorders, UCL Queen Square Institute of NeurologyDepartment of Neuromuscular Disorders, UCL Queen Square Institute of NeurologyDepartment of Medical Sciences, Medical Genetics Unit, University of TorinoDepartment of Medical Sciences, Medical Genetics Unit, University of TorinoDepartment of Public Health and Pediatrics, University of TorinoUnit of Medical and Molecular Genetics, University Hospital Sant Joan de Deu BarcelonaUnit of Neuropediatrics, University HospitalPediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv UniversityPediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv UniversityGeneDxGeneDxGeneDxGeneDxGeneDxDepartment of Biomedical Sciences, Seoul National UniversityDepartment of Pediatrics, Seoul National UniversityCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South UniversityCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South UniversityDepartment of Genome Sciences, University of Washington School of MedicineDepartment of Psychiatry, University of WashingtonCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South UniversityCenter for Autism and Related Disorders, Kennedy Krieger InstituteCenter for Autism and Related Disorders, Kennedy Krieger InstituteDepartment of Clinical Genetics, University of AmsterdamDepartment of Pediatric Neurology, Amsterdam UMCEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, MelbourneEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, MelbourneDepartment of Pediatrics, University of WashingtonDepartment of Pediatrics, Division of Genetic Medicine, University of WashingtonDepartment of Clinical Genomics, Mayo ClinicDepartment of Clinical Genomics, Mayo ClinicDepartment of Clinical Genomics, Mayo ClinicDepartment of Clinical Genomics, Mayo ClinicChildren’s Hospital of Eastern Ontario Research Institute, University of OttawaChildren’s Hospital of Eastern Ontario Research Institute, University of OttawaChild and Adolescent Psychiatry Department, Hospital General Universitario Gregorio Marañón, School of Medicine, Universidad Complutense, IiSGM, CIBERSAMInstitute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Maranon, Universidad Complutense, CIBERSAMHospital Gregorio Maranon, IiSGM, School of Medicine, Calle Dr Esquerdo, 46Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), CIMUS, Universidade de Santiago de CompostelaDepartment of Clinical Genetics, Leiden University Medical CenterDepartment of Clinical Genetics, Leiden University Medical CenterDepartment of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-SalpêtrièreDepartment of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-SalpêtrièreDepartment of Health Promotion,Mother and Child Care, Internal Medicine and Medical Specialities “G. D’Alessandro”, University of PalermoLaboratory of Neurogenetics and Neuroscience, IRCCS Istituto “Giannina Gaslini”Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini”Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, University of TriesteInstitute for Maternal and Child Health, IRCCS “Burlo Garofolo”, University of TriesteDepartment of Pediatric Neurology, University Hospital Vall d’Hebron, Universitat Autònoma de BarcelonaDepartment of Pediatric Neurology, University Hospital Vall d’Hebron, Universitat Autònoma de BarcelonaNeuroscience Medical Group, 1625 Stockton Boulevard, Suite 104Department of Genetics and Inherited Metabolic diseases, Children’s Hospital ColoradoDepartment of Pediatrics, Washington University School of MedicineDepartment of Pediatrics, Washington University School of MedicineWilliam Greenleaf Eliot Division of Child & Adolescent Psychiatry, Department of Psychiatry, Washington University School of MedicineDepartment of Chemical and Pharmaceutical Sciences, University of TriesteDepartment of Chemical and Pharmaceutical Sciences, University of TriesteNeurogenetics Unit, Department of Neurology, University of Sao PauloDepartment of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-SalpêtrièreDepartment of Biochemistry and Genetics, University HospitalDepartment of Biomedical Sciences, Seoul National UniversityPediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv UniversityLaboratory of Neurogenetics and Neuroscience, IRCCS Istituto “Giannina Gaslini”Department of Pediatrics, University of WashingtonEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, MelbourneCentre for Genomic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation TrustDepartment of Pediatric Neurology, University Hospital Vall d’Hebron, Universitat Autònoma de BarcelonaDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of NeurologyDepartment of Genome Sciences, University of Washington School of MedicineDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of NeurologyDepartment of Neuromuscular Disorders, UCL Queen Square Institute of NeurologyGenetic 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.”https://doi.org/10.1038/s41467-019-10910-w |
| spellingShingle | 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 AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Nature Communications |
| title | AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders |
| title_full | AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders |
| title_fullStr | AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders |
| title_full_unstemmed | AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders |
| title_short | AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders |
| title_sort | ampa receptor glua2 subunit defects are a cause of neurodevelopmental disorders |
| url | https://doi.org/10.1038/s41467-019-10910-w |
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