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Original article
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Authors

  • Miriam Schmidts Molecular Medicine Unit, Birth Defects Research Centre, University College London (UCL) Institute of Child Health, London, UK PubMed articlesGoogle scholar articles
  • Heleen H Arts Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The NetherlandsNijmegen Centre for Molecular Life Sciences, Radboud University, Nijmegen, The NetherlandsInstitute for Genetic and Metabolic Disease, Radboud University, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Ernie M H F Bongers Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The NetherlandsNijmegen Centre for Molecular Life Sciences, Radboud University, Nijmegen, The NetherlandsInstitute for Genetic and Metabolic Disease, Radboud University, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Zhimin Yap Molecular Medicine Unit, Birth Defects Research Centre, University College London (UCL) Institute of Child Health, London, UK PubMed articlesGoogle scholar articles
  • Machteld M Oud Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The NetherlandsNijmegen Centre for Molecular Life Sciences, Radboud University, Nijmegen, The NetherlandsInstitute for Genetic and Metabolic Disease, Radboud University, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Dinu Antony Molecular Medicine Unit, Birth Defects Research Centre, University College London (UCL) Institute of Child Health, London, UK PubMed articlesGoogle scholar articles
  • Lonneke Duijkers Nijmegen Centre for Molecular Life Sciences, Radboud University, Nijmegen, The NetherlandsDepartment of Physiology, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Richard D Emes School of Veterinary Medicine and Science, University of Nottingham, Nottingham, Leicestershire, UK PubMed articlesGoogle scholar articles
  • Jim Stalker The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK PubMed articlesGoogle scholar articles
  • Jan-Bart L Yntema Department of Paediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Vincent Plagnol Department of Genetics, Environment and Evolution, UCL Genetics Institute (UGI), University College London, London, UK PubMed articlesGoogle scholar articles
  • Alexander Hoischen Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The NetherlandsNijmegen Centre for Molecular Life Sciences, Radboud University, Nijmegen, The NetherlandsInstitute for Genetic and Metabolic Disease, Radboud University, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Christian Gilissen Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The NetherlandsNijmegen Centre for Molecular Life Sciences, Radboud University, Nijmegen, The NetherlandsInstitute for Genetic and Metabolic Disease, Radboud University, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Elisabeth Forsythe Molecular Medicine Unit, Birth Defects Research Centre, University College London (UCL) Institute of Child Health, London, UK PubMed articlesGoogle scholar articles
  • Ekkehart Lausch Division of Pediatric Genetics, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany PubMed articlesGoogle scholar articles
  • Joris A Veltman Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The NetherlandsNijmegen Centre for Molecular Life Sciences, Radboud University, Nijmegen, The NetherlandsInstitute for Genetic and Metabolic Disease, Radboud University, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Nel Roeleveld Institute for Genetic and Metabolic Disease, Radboud University, Nijmegen, The NetherlandsDepartment of Epidemiology, Biostatistics and HTA, Radboud University Medical Centre, Nijmegen, The NetherlandsNijmegen Centre for Evidence Based Practice, Radboud University, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Andrea Superti-Furga Department of Pediatrics, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland PubMed articlesGoogle scholar articles
  • Anna Kutkowska-Kazmierczak Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland PubMed articlesGoogle scholar articles
  • Erik-Jan Kamsteeg Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The NetherlandsNijmegen Centre for Molecular Life Sciences, Radboud University, Nijmegen, The NetherlandsInstitute for Genetic and Metabolic Disease, Radboud University, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Nursel Elçioğlu Department of Pediatric Genetics, Marmara University Hospital, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Merel C van Maarle Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articlesGoogle scholar articles
  • Luitgard M Graul-Neumann Institute for Medical Genetics and Human Genetics, University Hospital Charité, Berlin, Germany PubMed articlesGoogle scholar articles
  • Koenraad Devriendt Laboratory for Genetics of Human Development, Department of Human Genetics, KU Leuven University, Leuven, Belgium PubMed articlesGoogle scholar articles
  • Sarah F Smithson Department of Clinical Genetics, St. Michael's Hospital, Bristol, UK PubMed articlesGoogle scholar articles
  • Diana Wellesley Faculty of Medicine, University of Southampton and Essex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK PubMed articlesGoogle scholar articles
  • Nienke E Verbeek Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands PubMed articlesGoogle scholar articles
  • Raoul C M Hennekam Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Hulya Kayserili Istanbul Medical Faculty, Medical Genetics Department, Istanbul University, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Peter J Scambler Molecular Medicine Unit, Birth Defects Research Centre, University College London (UCL) Institute of Child Health, London, UK PubMed articlesGoogle scholar articles
  • Philip L Beales Molecular Medicine Unit, Birth Defects Research Centre, University College London (UCL) Institute of Child Health, London, UK PubMed articlesGoogle scholar articles
  • Nine VAM Knoers Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands PubMed articlesGoogle scholar articles
  • Ronald Roepman Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The NetherlandsNijmegen Centre for Molecular Life Sciences, Radboud University, Nijmegen, The NetherlandsInstitute for Genetic and Metabolic Disease, Radboud University, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Hannah M Mitchison Molecular Medicine Unit, Birth Defects Research Centre, University College London (UCL) Institute of Child Health, London, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Hannah M Mitchison, Molecular Medicine Unit, Birth Defects Research Centre, University College London (UCL) Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK; h.mitchison{at}ucl.ac.uk and Heleen H Arts, Department of Human Genetics (855), Radboud University Nijmegen Medical Centre, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, The Netherlands; h.arts{at}gen.umcn.nl
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Citation

Schmidts M, Arts HH, Bongers EMHF, et al
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Publication history

  • Received September 7, 2012
  • Accepted January 21, 2013
  • First published March 1, 2013.
Online issue publication 
April 12, 2013

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