De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

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作者： Sara,Reynhout ^[1] ; Sandra,Jansen ^[2] ; Dorien,Haesen ^[1] ; Siska,van Belle ^[1] ; Sonja A,de Munnik ^[2] ; Ernie M H F,Bongers ^[3] ; Jolanda H,Schieving ^[4] ; Carlo,Marcelis ^[3] ; Jeanne,Amiel ^[5] ; Marlène,Rio ^[6] ; Heather,Mclaughlin ^[7] ; Roger,Ladda ^[8] ; Susan,Sell ^[8] ; Marjolein,Kriek ^[9] ; Cacha M P C D,Peeters-Scholte ^[10] ; Paulien A,Terhal ^[11] ; Koen L,van Gassen ^[11] ; Nienke,Verbeek ^[11] ; Sonja,Henry ^[12] ; Jessica,Scott Schwoerer ^[12] ; Saleem,Malik ^[13] ; Nicole,Revencu ^[14] ; Carlos R,Ferreira ^[15] ; Ellen,Macnamara ^[16] ; Hilde M H,Braakman ^[17] ; Elise,Brimble ^[18] ; Maura R Z,Ruzhnikov ^[19] ; Matias,Wagner ^[20] ; Philip,Harrer ^[21] ; Dagmar,Wieczorek ^[22] ; Alma,Kuechler ^[23] ; Barak,Tziperman ^[24] ; Ortal,Barel ^[25] ; Bert B A,de Vries ^[2] ; Christopher T,Gordon ^[26] ; Veerle,Janssens ^[27] ; Lisenka E L M,Vissers ^[28]

作者单位： Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), 3000 Leuven, Belgium; Leuven Brain Institute, PO Box 901, 3000 Leuven, Belgium. ^[1] Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands. ^[2] Department of Human Genetics, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands. ^[3] Department of Neurology, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands. ^[4] Laboratory of Embryology and Genetics of Human Malformations, Paris Descartes University, Sorbonne Paris Cité University and INSERM U1163, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France. ^[5] Service de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France. ^[6] GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA. ^[7] Penn State Hershey Children's Hospital, Hershey, PA 17033, USA. ^[8] Department of Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, the Netherlands. ^[9] Department of Neurology, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, the Netherlands. ^[10] Department of Genetics, University Medical Center Utrecht, PO Box 85500, 3508 GA Utrecht, the Netherlands. ^[11] Biochemical Genetics Clinic, University of Wisconsin School of Medicine and Public Health, University of Wisconsin, Madison, WI 53705, USA. ^[12] Comprehensive Epilepsy Program, Jane and John Justin Neuroscience Center, Cook Children's Medical Center, Fort Worth, TX 76104, USA. ^[13] Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Avenue Hippocrate 10-1200, Brussels, Belgium. ^[14] Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. ^[15] Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. ^[16] Department of Neurology, Academic Center for Epileptology, Kempenhaeghe & Maastricht UMC+, Sterkelseweg 65, 5591 VE Heeze, the Netherlands. ^[17] Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA, 94305, USA. ^[18] Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA, 94305, USA; Department of Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, CA 94305, USA. ^[19] Institute of Human Genetics, Helmholtz Zentrum München, 85764 Munich, Germany; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany. ^[20] Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany. ^[21] Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45147 Essen, Germany. ^[22] Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45147 Essen, Germany. ^[23] Pediatric Neurology Unit, Sheba Medical Center, 52621 Ramat Gan, Israel. ^[24] Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, 52621 Tel Hashomer, Israel; Wohl Institute for Translational Medicine, Sheba Medical Center, 52621 Tel Hashomer, Israel. ^[25] Laboratory of Embryology and Genetics of Human Malformations, Paris Descartes University, Sorbonne Paris Cité University and INSERM U1163, Institut Imagine, 75015 Paris, France. ^[26] Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), 3000 Leuven, Belgium; Leuven Brain Institute, PO Box 901, 3000 Leuven, Belgium. Electronic address: veerle.janssens@kuleuven.be. ^[27] Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands. Electronic address: lisenka.vissers@radboudumc.nl. ^[28]

关键词 PP2A PP2A-related neurodevelopmental disorders PPP2CA de novo mutation epilepsy intellectual disability syndrome