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

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Autor: Bournazos AM; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Riley LG; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Rare Diseases Functional Genomics, Kids Research, Sydney Children's Hospital Network and Children's Medical Research Institute, Westmead, New South Wales, Australia., Bommireddipalli S; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Ades L; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Akesson LS; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; Department of Pathology, University of Melbourne, Parkville, Victoria, Australia; Department of Genomic Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Al-Shinnag M; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia; The University of Queensland, Herston, Queensland, Australia., Alexander SI; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Pediatric Nephrology, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Archibald AD; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Balasubramaniam S; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Western Sydney Genetics Program, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Berman Y; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia; Northern Clinical School, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Beshay V; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Boggs K; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Australian Genomics Health Alliance, Parkville, Victoria, Australia; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia., Bojadzieva J; Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia., Brown NJ; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Bryen SJ; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Buckley MF; NSW Health Pathology, Randwick, New South Wales, Australia., Chong B; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia., Dawes R; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Delatycki M; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Donaldson L; The Royal Melbourne Hospital, Parkville, Victoria, Australia., Downie L; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; The Royal Melbourne Hospital, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Edwards C; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia., Edwards M; Department of Paediatrics, School of Medicine, Western Sydney University, Penrith South, New South Wales, Australia., Engel A; ACT Genetic Service, ACT Health, The Canberra Hospital, Garran, ACT, Australia., Ewans LJ; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia; Central Clinical School, The University of Sydney, Camperdown, New South Wales, Australia., Faiz F; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia., Fennell A; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Monash Genetics, Monash Health, Clayton, Victoria, Australia., Field M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia., Freckmann ML; Department of Clinical Genetics, The Canberra Hospital, Garran, ACT, Australia., Gallacher L; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Gear R; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Goel H; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia; The University of Newcastle, Callaghan, New South Wales, Australia., Goh S; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia., Goodwin L; Department of Clinical Genetics, Nepean Hospital, Kingswood, New South Wales, Australia., Hanna B; Department of Genomic Medicine, Westmead Hospital, Westmead, New South Wales, Australia., Harraway J; Sullivan Nicolaides Pathology, Bowen Hills, Queensland, Australia., Higgins M; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Ho G; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Molecular Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Hopper BK; Forster Genetics, Forster, New South Wales, Australia., Horton AE; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Monash Heart and Monash Children's Hospital, Monash Health, Clayton, Victoria, Australia; Monash Cardiovascular Research Centre, Clayton, Victoria, Australia., Hunter MF; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Huq AJ; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; The Royal Melbourne Hospital, Parkville, Victoria, Australia., Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Genomic Medicine, Westmead Hospital, Westmead, New South Wales, Australia., Joshi H; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Kirk E; NSW Health Pathology, Randwick, New South Wales, Australia; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia., Krzesinski E; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Kumar KR; Department of Neurogenetics, Kolling Institute, Faculty of Medicine and Health, University of Sydney, Royal North Shore Hospital, St Leonards, New South Wales, Australia; Translational Genomics, Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, New South Wales, Australia., Lemckert F; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Leventer RJ; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia., Lindsey-Temple SE; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia., Lunke S; Department of Pathology, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Ma A; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Macaskill S; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Mallawaarachchi A; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia; Division of Genomics and Epigenetics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Marty M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Marum JE; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., McCarthy HJ; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Pediatric Nephrology, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Menezes MP; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., McLean A; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia., Milnes D; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Mohammad S; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Mowat D; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia., Niaz A; Rare Diseases Functional Genomics, Kids Research, Sydney Children's Hospital Network and Children's Medical Research Institute, Westmead, New South Wales, Australia., Palmer EE; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Patel SG; School of Medicine, The University of Auckland, Auckland, New Zealand., Phelan D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Pinner JR; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia., Rajagopalan S; Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia., Regan M; Monash Genetics, Monash Health, Clayton, Victoria, Australia; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Rodgers J; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Rodrigues M; Department of Neurology, Auckland City Hospital, Auckland, New Zealand., Roxburgh RH; Department of Neurology, Auckland City Hospital, Auckland, New Zealand., Sachdev R; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia., Roscioli T; NSW Health Pathology, Randwick, New South Wales, Australia; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; Neuroscience Research Australia, University of New South Wales, Randwick, New South Wales, Australia., Samarasekera R; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Sandaradura SA; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Savva E; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Schindler T; School of Women's and Children's Health, Faculty of Medicine and Health, University of New South Wales, Kensington, NSW, Australia; Newborn Care, Royal Hospital for Women, Randwick, New South Wales, Australia., Shah M; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Sinnerbrink IB; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, Nepean Hospital, Kingswood, New South Wales, Australia., Smith JM; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Smith RJ; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, United States., Springer A; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Stark Z; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Strom SP; Fulgent Genetics, Temple City, CA., Sue CM; Department of Neurogenetics, Kolling Institute, Faculty of Medicine and Health, University of Sydney, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Tan K; Department of Paediatrics, Monash University, Clayton, Victoria, Australia; Monash Newborn, Monash Children's Hospital, Clayton, Victoria, Australia., Tan TY; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Tantsis E; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Tchan MC; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Genomic Medicine, Westmead Hospital, Westmead, New South Wales, Australia., Thompson BA; Department of Pathology, The Royal Melbourne Hospital, Parkville, Victoria, Australia; Department of Clinical Pathology, University of Melbourne, Parkville, Victoria, Australia., Trainer AH; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia; Department of Genomic Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia., van Spaendonck-Zwarts K; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Walsh R; NSW Health Pathology, Randwick, New South Wales, Australia., Warwick L; ACT Genetic Service, ACT Health, The Canberra Hospital, Garran, ACT, Australia., White S; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia., White SM; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Williams MG; Mater Research Institute, The University of Queensland, South Brisbane, Queensland, Australia., Wilson MJ; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia., Wong WK; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Wright DC; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Cytogenetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Yap P; Northern Hub, Genetic Health Service NZ, Auckland, New Zealand., Yeung A; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Young H; Department of Intensive Care, Austin Hospital, Heidelberg, Victoria, Australia., Jones KJ; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Bennetts B; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; Department of Molecular Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Cooper ST; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Department of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia; The Children's Medical Research Institute, Westmead, New South Wales, Australia. Electronic address: sandra.cooper@sydney.edu.au.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jan; Vol. 24 (1), pp. 130-145. Date of Electronic Publication: 2021 Nov 30.

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; 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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.

Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature.

Autor: Pinner JR; Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Sydney Australia. Jason.Pinner@sswahs.nsw.gov.au., Freckmann ML, Kirk EP, Yoshino M

Publikováno v: Journal of medical case reports [J Med Case Rep] 2010 Nov 12; Vol. 4, pp. 361. Date of Electronic Publication: 2010 Nov 12.