Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

Por: Kumar R, Gardner A, Homan CC, Douglas E, Mefford H, Wieczorek D, Lüdecke HJ, Stark Z, Sadedin S, Broad CMG, Nowak CB, Douglas J, Parsons G, Mark P, Loidi L, Herman GE, Mihalic Mosher T, Gillespie MK, Brady L, Tarnopolsky M, Madrigal I, Eiris J, Domènech Salgado L, Rabionet-Janssen R, Strom TM, Ishihara N, Inagaki H, Kurahashi H, Dudding-Byth T, Palmer EE, Field M and Gecz J

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Publicada: 1 ago 2018

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Filiaciones:
Kumar R:
 Adelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, Australia

Gardner A:
 Adelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, Australia

Homan CC:
 Adelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, Australia

Douglas E:
 Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia

Mefford H:
 Division of Genetic Medicine, Department of Pediatrics, University of Washington Seattle Children's Hospital, Seattle, Washington

Wieczorek D:
 Heinrich-Heine-University, Medical Faculty, Institute of Human Genetics, Düsseldorf, Germany

 Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany

Lüdecke HJ:
 Heinrich-Heine-University, Medical Faculty, Institute of Human Genetics, Düsseldorf, Germany

 Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany

Stark Z:
 Murdoch Children's Research Institute, Melbourne, Australia

 Department of Pediatrics, University of Melbourne, Melbourne, Australia

Sadedin S:
 Murdoch Children's Research Institute, Melbourne, Australia

 Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts

Broad CMG:
 Broad's Center for Mendelian Genomics, Cambridge, Massachusetts

Nowak CB:
 The Feingold Center for Children at the Department of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts

Douglas J:
 The Feingold Center for Children at the Department of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts

Parsons G:
 Spectrum Health Medical Genetics, Grand Rapids, Michigan

Mark P:
 Spectrum Health Medical Genetics, Grand Rapids, Michigan

Loidi L:
 Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain

Herman GE:
 Nationwide Children's Hospital and The Ohio State University, Columbus, Ohio

Mihalic Mosher T:
 Nationwide Children's Hospital and The Ohio State University, Columbus, Ohio

Gillespie MK:
 Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada

Brady L:
 Department of Pediatrics, McMaster University Medical Centre, Hamilton, Canada

Tarnopolsky M:
 Department of Pediatrics, McMaster University Medical Centre, Hamilton, Canada

Madrigal I:
 Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, Barcelona, Spain

 Centre for Biomedical Research on Rare Diseases (ISCIII), Barcelona, Spain

Eiris J:
 Unidad de Neurología Pediátrica, Departamento de Pediatría, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain

Domènech Salgado L:
 Centre for Genomic Regulation (CRG), Universitat Pompeu Fabra and CIBERESP, Barcelona Institute for Science and Technology, Barcelona, Spain

Rabionet-Janssen R:
 Centre for Genomic Regulation (CRG), Universitat Pompeu Fabra and CIBERESP, Barcelona Institute for Science and Technology, Barcelona, Spain

Strom TM:
 Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany

Ishihara N:
 Department of Pediatrics, Fujita Health University School of Medicine, Aichi, Japan

Inagaki H:
 Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Japan

Kurahashi H:
 Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Japan

Dudding-Byth T:
 Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia

 University of Newcastle, Australia Grow-Up-Well Priority Research Center, Callaghan, Australia

Palmer EE:
 Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia

 School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia

Field M:
 Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia

Gecz J:
 Adelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, Australia

 Healthy Mothers, Babies and Children, South Australian Health and Medical Research Institute, Adelaide, SA, Australia