Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Por: Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sebire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkinay F, Patzer S, Pedro H, Pekic S, Pineda M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap M, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI and Bernard G

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Publicada: 23 ene 2021 Ahead of Print: 1 oct 2020

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Filiaciones:
Pelletier F:
 Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada

 Department of Pediatrics, McGill University, Montreal, QC, Canada

 Department of Human Genetics, McGill University, Montreal, QC, Canada

 Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada

 Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada

 Division of Child Neurology, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montreal, QC, Canada

Perrier S:
 Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada

 Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada

Cayami FK:
 Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, The Netherlands

 Center of Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia

Mirchi A:
 Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada

 Department of Pediatrics, McGill University, Montreal, QC, Canada

 Department of Human Genetics, McGill University, Montreal, QC, Canada

 Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada

 Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada

Saikali S:
 Department of Pathology, Centre Hospitalier Universitaire de Québec, Québec City, QC, Canada

Tran LT:
 Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada

 Department of Pediatrics, McGill University, Montreal, QC, Canada

 Department of Human Genetics, McGill University, Montreal, QC, Canada

 Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada

Ulrick N:
 Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA

Guerrero K:
 Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada

 Department of Pediatrics, McGill University, Montreal, QC, Canada

 Department of Human Genetics, McGill University, Montreal, QC, Canada

 Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada

Rampakakis E:
 Department of Pediatrics, McGill University, Montreal, QC, Canada

van Spaendonk RML:
 Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

Naidu S:
 Department of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA

Pohl D:
 Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada

Gibson WT:
 Department of Medical Genetics, University of British Columbia, BC Children's Hospital Research Institute, Vancouver, BC, Canada

Demos M:
 Division of Neurology, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada

Goizet C:
 Centre de Référence Neurogénétique, Service de Génétique Médicale, Bordeaux University Hospital, and Laboratoire MRGM, INSERM U1211, Université de Bordeaux, Bordeaux, France

Tejera-Martin I:
 Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain

Potic A:
 Department of Neurology, Clinic for Child Neurology and Psychiatry, Medical Faculty University of Belgrade, Belgrade, Serbia

Fogel BL:
 Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA

Brais B:
 Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada

 Department of Human Genetics, McGill University, Montreal, QC, Canada

 Montreal Neurological Institute, Montreal, QC, Canada

Sylvain M:
 Centre Mère Enfant, CHU de Québec, Québec City, QC, Canada

Sebire G:
 Department of Pediatrics, McGill University, Montreal, QC, Canada

 Department of Pediatrics, Université de Sherbrooke, Sherbrooke, QC, Canada

Lourenço CM:
 Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto, SP, Brazil

Bonkowsky JL:
 Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA

Catsman-Berrevoets C:
 Department of Paediatric Neurology, Erasmus University Hospital - Sophia Children's Hospital, Rotterdam, The Netherlands

Pinto PS:
 Neuroradiology Department, Centro Hospitalar do Porto, Porto, Portugal

Tirupathi S:
 Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK

Strømme P:
 Division of Pediatrics and Adolescent Medicine, Oslo University Hospital, Ullevål, and University of Oslo, Oslo, Norway

de Grauw T:
 Department of Pediatrics, Emory School of Medicine, Atlanta, GA, USA

Gieruszczak-Bialek D:
 Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland

 Department of Pediatrics, Medical University of Warsaw, Warsaw, Poland

Krägeloh-Mann I:
 Department of Child Neurology, University Children's Hospital Tübingen, Tübingen, Germany

Mierzewska H:
 Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland

Philippi H:
 Center of Developmental Neurology (SPZ Frankfurt Mitte), Frankfurt, Germany

Rankin J:
 Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK

Atik T:
 Division of Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey

Banwell B:
 Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA

Benko WS:
 Division of Pediatric Neurology, Department of Neurology, UC Davis Health System, Sacramento, CA, USA

Blaschek A:
 Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany

Bley A:
 University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

Boltshauser E:
 Department of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland

Bratkovic D:
 Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia

Brozova K:
 Department of Child Neurology, Thomayers Hospital, Prague, Czech Republic

Cimas I:
 Department of Neurology, Povisa Hospital, Vigo, Spain

Clough C:
 Department of Neurology, King's College Hospital, London, UK

Corenblum B:
 Division of Endocrinology & Metabolism, Department of Medicine, University of Calgary, Calgary, AB, Canada

Dinopoulos A:
 Third Department of Pediatrics, National and Kapodistrian University of Athens, "Attikon" Hospital, Athens, Greece

Dolan G:
 Bristow Pediatrics, Bristow, VA, USA

Faletra F:
 Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy

Fernandez R:
 Pediatric Neurology Associates, Tampa, FL, USA

Fletcher J:
 Genetics and Molecular Pathology, Women's and Children's Hospital, Adelaide, South Australia, Australia

Garcia Garcia ME:
 Department of Neurology, The Royal London Hospital, London, UK

Gasparini P:
 Institute for Maternal and Child Health, IRCCS Burlo Garofolo, and University of Trieste, Trieste, Italy

Gburek-Augustat J:
 Division of Neuropaediatrics, Hospital for Children and Adolescents, University Leipzig, Leipzig, Germany

Gonzalez Moron D:
 Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia, Buenos Aires, Argentina

Hamati A:
 Indiana University, Department of Child Neurology, Indianapolis, IN, USA

Harting I:
 Department of Neuroradiology, University Hospital Heidelberg, Germany

Hertzberg C:
 Department of Child Neurology, Vivantes Klinikum, Berlin, Germany

Hill A:
 Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada

Hobson GM:
 Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA

Innes AM:
 Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada

Kauffman M:
 Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia and CONICET, Buenos Aires, Argentina

Kirwin SM:
 Molecular Diagnostics Laboratory, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA

Kluger G:
 PMU Salzburg, Salzburg, Austria

 Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany

Kolditz P:
 Department of Child Neurology, Kantonsspital Luzern, Luzern, Switzerland

Kotzaeridou U:
 Department of Child Neurology, University Children's Hospital Heidelberg, Heidelberg, Germany

La Piana R:
 Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada

Liston E:
 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada

McClintock W:
 Pediatric Specialists of Virginia, Fairfax, VA, USA Department of Neurology, Children's National Medical Center, Washington, DC, USA

McEntagart M:
 South West Thames Regional Genetics Service, St. George's Hospital, London, UK

McKenzie F:
 Genetic Services of Western Australia, Subiaco, WA, Australia School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia

Melançon S:
 Department of Medical Genetics, McGill University Health Centre, Montreal Children's Hospital, Montreal, QC, Canada

Misbahuddin A:
 Essex Centre for Neurological Sciences, Queen's Hospital, Romford, UK

Suri M:
 Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK

Monton FI:
 Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain

Moutton S:
 Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France

Murphy RPJ:
 Department of Neurology, Tallaght University Hospital, Tallaght, Ireland

Nickel M:
 Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

Onay H:
 Department of Medical Genetics, Ege University, Izmir, Turkey

Orcesi S:
 Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy

Özkinay F:
 Department of Pediatrics, Subdivision of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey

Patzer S:
 Children's Hospital St. Elisabeth and St. Barbara, Halle (Saale), Germany

Pedro H:
 Department of Pediatrics, The Joseph M. Sanzari Children's Hospital, Hackensack University Medical Center, Hackensack, NJ, USA

Pekic S:
 Clinic for Endocrinology, Diabetes and Diseases of Metabolism, University Clinical Center, Belgrade & School of Medicine, University of Belgrade, Belgrade, Serbia

Pineda M:
 Hospital Sant Joan de Deu, Passeig de Sant Joan de Deu nº2, Barcelona, Spain

Pizzino A:
 Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA Department of Genetics, MetroHealth Hospital, Cleveland, OH, USA

Plecko B:
 Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria

Poll-The BT:
 Department of Pediatric Neurology, Emma Children's Hospital Amsterdam, The Netherlands

Popovic V:
 Medical Faculty, University of Belgrade, Belgrade, Serbia

Rating D:
 Department of Paediatric Neurology, University Children's Hospital, Heidelberg, Germany

Rioux MF:
 Centre Hospitalier Universitaire de Sherbrooke - Hôpital Fleurimont, Sherbrooke, QC, Canada

Rodriguez Espinosa N:
 Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain

Ronan A:
 Hunter New England LHD, University of Newcastle, NSW, Australia

Ostergaard JR:
 Centre for Rare Diseases, Aarhus University Hospital. Aarhus, Denmark

Rossignol E:
 Departments of Neurosciences and Pediatrics, CHU-Sainte-Justine, Université de Montréal, Montreal, QC, Canada

Sanchez-Carpintero R:
 Pediatric Neurology Unit, Department of Pediatrics, Clinica Universidad de Navarra, Pamplona, Spain

Schossig A:
 Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

Senbil N:
 Department of Child Neurology, Kirikkale University Medical Faculty, Kirikkale, Turkey

Sønderberg Roos LK:
 Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark

Stevens CA:
 Department of Pediatrics, Division of Medical Genetics, University of Tennessee College of Medicine, Chattanooga, TN, USA

Synofzik M:
 Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and Centre of Neurology, German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany

Sztriha L:
 Department of Paediatrics, University of Szeged, Szeged, Hungary

Tibussek D:
 Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, Düsseldorf, Germany

Timmann D:
 Department of Neurology, Essen University Hospital, University of Duisburg-Essen, Essen, Germany

Tonduti D:
 Child Neurology Unit, V. Buzzi Children's Hospital, Milano, Italy

van de Warrenburg BP:
 Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands

Vázquez-López M:
 Sección Neuropediatría. Hospital Maternoinfantil Gregorio Marañón, Madrid, Spain

Venkateswaran S:
 Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada

Wasling P:
 Department of Neuroscience and Rehabilitation, The Sahlgrenska Academy, University of Gothenburg, Sweden

Wassmer E:
 Paediatric Neurology, Birmingham Children's Hospital, UK

Webster RI:
 T. Y. Nelson Department of Neurology and Neurosurgery and the Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia

Wiegand G:
 Department of Pediatric Neurology, University Hospital Kiel, Germany Neuropediatrics Section of the Department of Pediatrics, Asklepios Clinic Hamburg Nord-Heidberg, Hamburg, Germany

Yoon G:
 Division of Clinical and Metabolic Genetics, Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada

Rotteveel J:
 Emma Children's Hospital, Amsterdam UMC, Pediatric Endocrinology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

Schiffmann R:
 Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA

van der Knaap M:
 Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, The Netherlands

 Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands

Vanderver A:
 Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA

 Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

Martos-Moreno GÁ:
 Department of Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain

 Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain CIBER de Fisiopatologia de la Obesidad y Nutrici?n (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain

Polychronakos C:
 Division of Endocrinology, Montreal Children's Hospital and the Endocrine Genetics Lab, Research Institute of the McGill University Health Centre, Montreal, QC, Canada

Wolf NI:
 Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, The Netherlands

Bernard G:
 Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada

 Department of Pediatrics, McGill University, Montreal, QC, Canada

 Department of Human Genetics, McGill University, Montreal, QC, Canada

 Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada

 Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada