首页> Nature genetics> Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

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第一作者： Esther,Meyer

第一单位： Molecular Neurosciences, Developmental Neurosciences, UCL Institute of Child Health, London, UK.

作者： Esther,Meyer ^[1] ; Keren J,Carss ^[2] ; Julia,Rankin ^[3] ; John M E,Nichols ^[4] ; Detelina,Grozeva ^[5] ; Agnel P,Joseph ^[6] ; Niccolo E,Mencacci ^[7] ; Apostolos,Papandreou ^[8] ; Joanne,Ng ^[8] ; Serena,Barral ^[1] ; Adeline,Ngoh ^[8] ; Hilla,Ben-Pazi ^[9] ; Michel A,Willemsen ^[10] ; David,Arkadir ^[11] ; Angela,Barnicoat ^[12] ; Hagai,Bergman ^[13] ; Sanjay,Bhate ^[14] ; Amber,Boys ^[15] ; Niklas,Darin ^[16] ; Nicola,Foulds ^[17] ; Nicholas,Gutowski ^[18] ; Alison,Hills ^[19] ; Henry,Houlden ^[7] ; Jane A,Hurst ^[12] ; Zvi,Israel ^[20] ; Margaret,Kaminska ^[21] ; Patricia,Limousin ^[22] ; Daniel,Lumsden ^[21] ; Shane,McKee ^[23] ; Shibalik,Misra ^[24] ; Shekeeb S,Mohammed ^[24] ; Vasiliki,Nakou ^[21] ; Joost,Nicolai ^[25] ; Magnus,Nilsson ^[26] ; Hardev,Pall ^[27] ; Kathryn J,Peall ^[28] ; Gregory B,Peters ^[29] ; Prab,Prabhakar ^[14] ; Miriam S,Reuter ^[30] ; Patrick,Rump ^[31] ; Reeval,Segel ^[32] ; Margje,Sinnema ^[33] ; Martin,Smith ^[34] ; Peter,Turnpenny ^[3] ; Susan M,White ^[35] ; Dagmar,Wieczorek ^[36] ; Sarah,Wiethoff ^[7] ; Brian T,Wilson ^[12] ; Gidon,Winter ^[9] ; Christopher,Wragg ^[19] ; Simon,Pope ^[37] ; Simon J H,Heales ^[38] ; Deborah,Morrogh ^[39] ; UK10K Consortium ^[7] ; Deciphering Developmental Disorders Study ^[14] ; NIHR BioResource Rare Diseases Consortium ^[40] ; Alan,Pittman ^[21] ; Lucinda J,Carr ^[30] ; Belen,Perez-Dueñas ^[41] ; Jean-Pierre,Lin ^[41] ; Andre,Reis ^[22] ; William A,Gahl ^[7] ; Camilo,Toro ^[42] ; Kailash P,Bhatia ^[43] ; Nicholas W,Wood ^[4] ; Erik-Jan,Kamsteeg ^[6] ; Wui K,Chong ^[24] ; Paul,Gissen ^[4] ; Maya,Topf ^[44] ; Russell C,Dale ^[8] ; Jonathan R,Chubb ; F Lucy,Raymond ; Manju A,Kurian

作者单位： Molecular Neurosciences, Developmental Neurosciences, UCL Institute of Child Health, London, UK. ^[1] Department of Hematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge, UK.;NIHR BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK. ^[2] Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK. ^[3] MRC Laboratory for Molecular Cell Biology and Department of Cell and Developmental Biology, University College London, London, UK. ^[4] Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK. ^[5] Institute of Structural and Molecular Biology, Crystallography/Department of Biological Sciences, Birkbeck College, University of London, London, UK. ^[6] Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK. ^[7] Molecular Neurosciences, Developmental Neurosciences, UCL Institute of Child Health, London, UK.;Department of Neurology, Great Ormond Street Hospital, London, UK. ^[8] Pediatric Neurology and Development, Shaare-Zedek Hospital, Jerusalem, Israel. ^[9] Department of Paediatric Neurology, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands. ^[10] Department of Neurology, Hadassah Medical Center and Hebrew University, Jerusalem, Israel. ^[11] Department of Clinical Genetics, Great Ormond Street Hospital, London, UK. ^[12] Department of Neurobiology and Neurosurgery, Hebrew University, Hadassah Medical Centre, Jerusalem, Israel. ^[13] Department of Neurology, Great Ormond Street Hospital, London, UK. ^[14] Victoria Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia. ^[15] Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden. ^[16] Department of Clinical Genetics, Southampton General Hospital, Southampton, UK. ^[17] Department of Neurology, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK. ^[18] Bristol Genetics Laboratory, Pathology Sciences, Southmead Hospital, Bristol, UK. ^[19] Functional and Restorative Neurosurgery, Hadassah University Hospital, Jerusalem, Israel. ^[20] Complex Motor Disorders Service, Evelina Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK. ^[21] Sobell Department, National Hospital for Neurology and Neurosurgery, London, UK. ^[22] Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK. ^[23] Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia.;Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia. ^[24] Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands. ^[25] Department of Pediatrics, Piteå Hospital and Umeå University Hospital, Umeå, Sweden. ^[26] College of Medicine and Dental Studies, University of Birmingham, Birmingham, UK. ^[27] Neuroscience and Mental Health Research Institute, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK. ^[28] Department of Cytogenetics, Children's Hospital at Westmead, Westmead, New South Wales, Australia. ^[29] Institute of Human Genetics, Friedrich Alexander Universität Erlangen-Nürnberg, Erlangen, Germany. ^[30] Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands. ^[31] Medical Genetics Institute and Pediatrics, Shaare-Zedek Medical Center and Hebrew University School of Medicine, Jerusalem, Israel. ^[32] Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, the Netherlands. ^[33] Department of Pediatric Neurology, John Radcliffe Hospital, Oxford, UK. ^[34] Victoria Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.;Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia. ^[35] Institute of Human Genetics, University Duisburg-Essen, Essen, Germany.;Institute of Human Genetics, Heinrich Heine University, Medical Faculty, Düsseldorf, Germany. ^[36] Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK. ^[37] Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.;Clinical Chemistry, Great Ormond Street Hospital, NHS Foundation Trust, London, UK. ^[38] North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK. ^[39] Department of Child Neurology, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.;Centre for Biomedical Research in Rare Diseases (CIBERER-ISCIII), Hospital Sant Joan de Déu, Barcelona, Spain. ^[40] NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, US National Institutes of Health, Bethesda, Maryland, USA. ^[41] Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. ^[42] Department of Radiology, Great Ormond Street Hospital, London, UK. ^[43] NIHR BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.;Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK. ^[44]