Congenital titinopathy: comprehensive characterisation and pathogenic insights

Autor: Oates, EC, Jones, KJ, Donkervoort, S, Charlton, A, Brammah, S, Smith, JE, Ware, JS, Yau, KS, Swanson, LC, Whiffin, N, Peduto, AJ, Bournazozs, A, Waddell, LB, Farrar, MA, Sampaio, HA, Teoh, HL, Lamont, PJ, Mowat, D, Fitzsimons, RB, Corbett, AJ, Ryan, MM, O'Grady, GL, Sandaradura, SA, Ghaoui, R, Joshi, HB, Marshall, JL, Nolan, MA, Kaur, S, Punetha, J, Topf, A, Harris, E, Bakshi, M, Genetti, CA, Marttila, M, Werlauff, U, Streichenberger, N, Pestronk, A, Mazanti, I, Pinner, JR, Vuillerot, C, Grosmann, C, Camacho, A, Mohassel, P, Leach, ME, Foley, AR, Bharucha-Goebel, D, Collins, J, Connolly, AM, Gilbreath, HR, Iannaccone, ST, Castro, D, Cummings, BB, Webster, RI, Lazaro, L, Vissing, J, Coppens, S, Deconinck, N, Luk, H, Thomas, NH, Foulds, NC, Illingworth, MA, McLean, CA, Phadke, R, Ravenscroft, G, Witting, N, Hackman, P, Richard, I, Cooper, ST, Kamsteeg, EJ, Hoffman, EP, Bushby, K, Straub, V, Udd, B, Ferreiro, A, North, KN, Clarke, NF, Lek, M, Beggs, AH, Bonnermann, CG, MacArthur, DG, Granzier, H, Davis, MR, Laing, NG

Objective: Comprehensive clinical characterisation of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. Methods: Using massively parallel sequencing we identified 30 patients from 27 families with two

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1032::94520875be073f9f913cd6fda3ccf75f
http://hdl.handle.net/10044/1/60869

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Autor: Oates EC; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; School of Biotechnology and Biomolecular Sciences, Faculty of Science, The University of New South Wales, Sydney, New South Wales, Australia., Jones KJ; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD., Charlton A; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Department of Histopathology, Children's Hospital at Westmead, Sydney, New South Wales, Australia., Brammah S; Electron Microscope Unit, Department of Anatomical Pathology, Concord Repatriation General Hospital, Concord, Sydney, New South Wales, Australia., Smith JE 3rd; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ., Ware JS; National Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London, London, United Kingdom.; Royal Brompton and Harefield Hospitals NHS Trust, London, United Kingdom., Yau KS; Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia., Swanson LC; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Whiffin N; National Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London, London, United Kingdom.; Royal Brompton and Harefield Hospitals NHS Trust, London, United Kingdom., Peduto AJ; Department of Radiology, Westmead Hospital, Sydney, New South Wales, Australia.; University of Sydney Western Clinical School, Sydney, New South Wales, Australia., Bournazos A; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Waddell LB; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Farrar MA; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales Sydney, Sydney, New South Wales, Australia., Sampaio HA; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales Sydney, Sydney, New South Wales, Australia., Teoh HL; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales Sydney, Sydney, New South Wales, Australia., Lamont PJ; Neurogenetic Unit, Department of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia., Mowat D; School of Women's and Children's Health, University of New South Wales Sydney, Sydney, New South Wales, Australia.; Department of Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia., Fitzsimons RB; Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia., Corbett AJ; Department of Neurology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia., Ryan MM; Department of Neurology, Royal Children's Hospital, Parkville, Victoria, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; University of Melbourne, Parkville, Victoria, Australia., O'Grady GL; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Paediatric Neuroservices, Starship Child Health, Auckland, New Zealand., Sandaradura SA; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Ghaoui R; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Joshi H; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia., Marshall JL; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.; Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA., Nolan MA; Paediatric Neuroservices, Starship Child Health, Auckland, New Zealand., Kaur S; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia., Punetha J; Research Center for Genetic Medicine, Children's National Medical Center, Washington, DC.; Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Washington, DC., Töpf A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., Harris E; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., Bakshi M; Department of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia., Genetti CA; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Marttila M; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Werlauff U; Danish National Rehabilitation Center for Neuromuscular Diseases, Aarhus, Denmark., Streichenberger N; Neuropathology Department, Hospices Civils Lyon, Claude Bernard University, Lyon1, France.; NeuroMyogene Institute, CNRS UMR 5310, INSERM U1217, Lyon, France., Pestronk A; Department of Neurology, Washington University School of Medicine, Saint Louis, MO.; Department of Pathology and Immunology, Washington University School of Medicine, Saint Louis, MO., Mazanti I; Cellular Pathology, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom., Pinner JR; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, Sydney, New South Wales, Australia., Vuillerot C; Woman-Mother-Child Hospital, Hospices Civils Lyon, Bron, France.; Claude Bernard University Lyon1, France., Grosmann C; University of California, San Diego/Rady Children's Hospital, San Diego, CA., Camacho A; Child Neurology Unit, Department of Neurology, October 12 University Hospital, Faculty of Medicine, Complutense University, Madrid, Spain., Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD., Leach ME; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD., Bharucha-Goebel D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Division of Neurology, Children's National Health System, Washington, DC., Collins J; Mercy Clinic Pediatric Neurology, Springfield, MO., Connolly AM; Neuromuscular Division, Departments of Neurology and Pediatrics, Washington University School of Medicine, Saint Louis, MO., Gilbreath HR; Department of Advanced Practice, Children's Medical Center of Dallas, Dallas, TX., Iannaccone ST; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX., Castro D; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX., Cummings BB; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA.; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA., Webster RI; T. Y. Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Sydney, New South Wales, Australia., Lazaro L; Pediatric Service, Basque Coast Hospital Center, Bayonne, France., Vissing J; Neuromuscular Clinic and Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Coppens S; Department of Pediatric Neurology, Neuromuscular Reference Center, Erasmus Hospital, Free University of Brussels, Brussels, Belgium.; Department of Pediatric Neurology, Neuromuscular Reference Center, Queen Fabiola Children's University Hospital, Free University of Brussels, Brussels, Belgium., Deconinck N; Department of Pediatric Neurology, Neuromuscular Reference Center, Queen Fabiola Children's University Hospital, Free University of Brussels, Brussels, Belgium., Luk HM; Clinical Genetic Service, Department of Health, Hong Kong, China., Thomas NH; Department of Paediatric Neurology, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom., Foulds NC; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom., Illingworth MA; Department of Paediatric Neurology, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom., Ellard S; University of Exeter Medical School, Exeter, United Kingdom.; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., McLean CA; Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, Australia.; Faculty of Medicine, Nursing, and Health Sciences, Monash University, Melbourne, Victoria, Australia., Phadke R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, United Kingdom., Ravenscroft G; Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia., Witting N; Copenhagen Neuromuscular Unit and Department of Neurology, Rigshospitalet, Copenhagen University, Copenhagen, Denmark., Hackman P; Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Helsinki, Finland., Richard I; Généthon, INSERM U951, INTEGRARE Research Unit, Évry, France., Cooper ST; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Hoffman EP; Research Center for Genetic Medicine, Children's National Medical Center, Washington, DC.; Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Washington, DC., Bushby K; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., Straub V; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., Udd B; Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Neuromuscular Research Center, Tampere University and University Hospital, Neurology, Tampere, Finland.; Department of Medical Genetics, University of Helsinki, Helsinki, Finland.; Vaasa Central Hospital, Department of Neurology, Vaasa, Finland., Ferreiro A; Pathophysiology of Striated Muscles Laboratory, Unit of Functional and Adaptative Biology, BFA, Paris Diderot University/CNRS, Sorbonne Paris Cité, Paris, France.; Public Hospital Network of Paris, Paris-East Reference Center Neuromuscular Diseases, Pitié-Salpêtrière Hospital Group, Paris, France., North KN; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia., Clarke NF; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Lek M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA., Beggs AH; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD., MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA., Granzier H; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ., Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands, Western Australia, Australia., Laing NG; Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

Publikováno v: Annals of neurology [Ann Neurol] 2018 Jun; Vol. 83 (6), pp. 1105-1124.

PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.

Autor: Illingworth MA; Department of Neurology, Great Ormond Street Hospital, London, UK., Meyer E; Neurosciences Unit, UCL-Institute of Child Health, London, UK., Chong WK; Department of Radiology, Great Ormond Street Hospital, London, UK., Manzur AY; Dubowitz Neuromuscular Centre for Congenital Muscular Dystrophies and Myopathies, Great Ormond Street Hospital, London, UK., Carr LJ; Department of Neurology, Great Ormond Street Hospital, London, UK., Younis R; West Midlands Regional Genetics, Birmingham Women's Hospital, Birmingham, UK., Hardy C; West Midlands Regional Genetics, Birmingham Women's Hospital, Birmingham, UK., McDonald F; West Midlands Regional Genetics, Birmingham Women's Hospital, Birmingham, UK., Childs AM; Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK., Stewart B; Department of Paediatrics, York Teaching Hospitals NHS Foundation Trust, York, UK., Warren D; Department of Neuroradiology, Leeds teaching Hospitals, Leeds. UK., Kneen R; Department of Neurology, Alder Hey Children's Hospital, Liverpool, UK., King MD; Department of Paediatric Neurology, Children's University Hospital, Temple Street, Dublin, Ireland., Hayflick SJ; Department of Molecular & Medical Genetics, OR Health & Science University, Portland 97239, USA; Department of Paediatrics, OR Health & Science University, Portland 97239, USA; Department of Neurology, OR Health & Science University, Portland 97239, USA., Kurian MA; Department of Neurology, Great Ormond Street Hospital, London, UK; Neurosciences Unit, UCL-Institute of Child Health, London, UK. Electronic address: manju.kurian@ucl.ac.uk.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2014 Jun; Vol. 112 (2), pp. 183-9. Date of Electronic Publication: 2014 Mar 29.