PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Autor: Guimier A; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.; Service de Génétique, Hôpital Necker Enfants Malades, APHP, Paris, France., Achleitner MT; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Moreau de Bellaing A; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.; Unité médico-chirurgicale de cardiologie pédiatrique, Hôpital Necker Enfants Malades, APHP, Paris, France., Edwards M; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., de Pontual L; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Mittal K; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Dunn KE; Children's Heart Center, Stanford Children's Health, Palo Alto, CA, USA., Grove ME; Stanford Medicine Clinical Genomics Program, Stanford, CA, USA., Tysoe CJ; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Dimartino C; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Cameron J; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Kanthi A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., van den Broek F; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Chatterjee D; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Alston CL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Knowles CV; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Brett L; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., Till JA; Paediatric Cardiology, Royal Brompton and Harefield NHS Trust, London, UK., Homfray T; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., French P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Spentzou G; The Royal Hospital for Children, Glasgow, UK.; Department of Pediatrics, Columbia University, New York, NY, USA., Elserafy NA; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Lichkus KS; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Sankaran BP; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Kennedy HL; Department of Psychological Medicine, University of Otago, Christchurch, New Zealand., George PM; Pathogene, Christchurch, New Zealand., Kidd A; Clinical Genetics New Zealand, Christchurch, New Zealand., Wortmann SB; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Fisk DG; Stanford Medicine Clinical Genomics Program, Stanford, CA, USA., Koopmann TT; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Rafiq MA; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Merker JD; Department of Pathology, School of Medicine, Stanford, CA, USA.; Departments of Pathology and Laboratory Medicine & Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina School Medicine, Chapel Hill, NC, USA., Parikh S; Mitochondrial Medicine Center, Neuroscience Institute, Cleveland Clinic, Cleveland, OH, USA., Ahimaz P; Department of Pediatrics, Columbia University, New York, NY, USA., Weintraub RG; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia., Ma AS; Department of Clinical Genetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia., Turner C; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia., Ellaway CJ; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia., Phillips LK; SA Pathology, Department of Genetics and Molecular Pathology, Adelaide, SA, Australia.; University of Adelaide, Adelaide, SA, Australia., Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia., Chung WK; Department of Pediatrics, Columbia University, New York, NY, USA., Kana SL; Division of Clinical Genetics and Metabolism, Nicklaus Children's Health System, Miami, FL, USA.; Florida International University, Miami, FL, USA., Faye-Petersen OM; Department of Pathology, University of Alabama at Birmingham, Birmingham, AL, USA., Thompson ML; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA., Janin A; Laboratoire de Cardiogénétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, Université Claude Bernard Lyon 1, Lyon, France., McLeod K; The Royal Hospital for Children, Glasgow, UK., McGowan R; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Morris-Rosendahl DJ; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Turner CLS; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Hamilton RM; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Bajolle F; Unité médico-chirurgicale de cardiologie pédiatrique, Hôpital Necker Enfants Malades, APHP, Paris, France., Gordon CT; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Amiel J; INSERM U1163, Université de Paris, Institut Imagine, Paris, France. jeanne.amiel@inserm.fr.; Service de Génétique, Hôpital Necker Enfants Malades, APHP, Paris, France. jeanne.amiel@inserm.fr., Mayr JA; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria. h.mayr@salk.at., Doudney K; Centre for Postgraduate Nursing Studies and the Department of Pathology and Biomedical Science, University of Otago Christchurch, Otautahi, New Zealand. kit.doudney@otago.ac.nz.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Dec; Vol. 23 (12), pp. 2415-2425. Date of Electronic Publication: 2021 Aug 16.