Ciliary defects and genetics of primary ciliary dyskinesia |
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| Institution: | 1. AP-HP, Service de Génétique et d’Embryologie médicales and Inserm U.933, Hôpital Armand-Trousseau, 26, avenue du Docteur Arnold-Netter, 75571 Paris Cedex 13, France;2. AP-HP, Service d’ORL et de chirurgie cervico-faciale, Groupe hospitalier Henri-Mondor et Hôpital intercommunal and Inserm U.955 Créteil, F-94010, France;1. Cambridge Centre for Lung infection, Papworth Hospital NHS Trust, Papworth Everard, Cambridge, CB23 3RE, United Kingdom;2. Pediatric Respiratory Medicine, Montreal Children''s Hospital, McGill University, 1001 Decarie Blvd - BRC.5016, Montreal, Quebec, Canada, H4A 3J1;3. Consultant Respiratory and General Physician, Cork University Hospital, Wilton, Cork, Ireland;1. Respirology Department, Children''s Hospital of Fudan University, Shanghai, P.R. China;2. Cardiothoracic Surgery Department, Children''s Hospital of Fudan University, Shanghai, China;1. Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA;2. Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA;3. Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany;4. Department of Molecular and Clinical Genetics, Institute of Human Genetics, Polish Academy of Sciences, Strzeszyńska 32, 60-479 Poznań, Poland;5. International Institute of Molecular and Cell Biology, Trojdena 4, 02-109 Warsaw, Poland;6. Department of Pathology, Faculty of Medicine, Health Sciences Center, Kuwait University, PO Box 24923 Safat, 13110, Kuwait;7. Leeds Institute for Genetics Health and Therapeutics, Faculty of Medicine and Health, University of Leeds, Leeds LS2 9JT, UK;8. Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA;9. Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK;10. Department of Pediatrics, The Hospital for Sick Children, University of Toronto, ON M5G1X8, Canada;11. Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA;12. Nephrology Division, Massachusetts General Hospital, Boston, MA 02114, USA;13. Department of Cell and Molecular Biology, Northwestern University, Chicago, IL 60611, USA;14. Departments of Ophthalmology and Neurobiology, Jules Stein Eye Institute, School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA;15. Seattle Children’s Hospital, School of Medicine, University of Washington, Seattle, WA 98105, USA;16. Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA;17. Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St. James’s University Hospital, Leeds LS9 7TF, UK;18. Department of Pediatrics, School of Medicine, Washington University in St. Louis, St. Louis, MO 63110, USA;19. Department of Pediatrics, School of Medicine, University of Colorado, Aurora, CO 80045, USA;20. Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA;21. Department of Respiratory Medicine, Concord Hospital, Concord 2139, Australia;22. Department of Genetics, Yale University, New Haven, CT 06520, USA;23. Pediatric Department, Ziv Medical Center, Faculty of Medicine, Bar IIan University, Safed, 13100 Israel;24. Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstraße 55, 45122 Essen, Germany;25. Evangelisches Krankenhaus Bielefeld, Klinik für Kinder- und Jugendmedizin, 33617 Bielefeld, Nordrhein-Westfalen, Germany;26. Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark;27. Department of Pneumology, Allergy, and Neonatology, University Children’s Hospital, Hannover Medical School, 30625 Hannover, Germany;28. Zagreb Clinical Hospital Center, Clinical Institute of Laboratory Diagnosis, School of Medicine, Zagreb University, 10000 Zagreb, Croatia;29. University Hospital Muenster, Department of Pathology, 48149 Muenster, Germany;30. University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI 48109, USA;31. HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA;32. Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA;33. Klinik für Kinder- und Jugendmedizin im St. Josef Hospital, Ruhr-Universität Bochum, 44791 Bochum, Germany;34. Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche S933, Université Pierre et Marie Curie (Paris 6), Paris 75012, France;35. Department of Genetics, Harvard Medical School, Boston, MA 02115, USA;36. Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA;1. INSERM U1016, Institut Cochin, Paris 75014, France;2. Centre National de la Recherche Scientifique UMR8104, Paris 75014, France;3. Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France;4. INSERM UMR S933, Université Pierre et Marie Curie (Paris 6), Paris 75012, France;5. Equipe 13, INSERM UMR S955, Faculté de Médecine, Université Paris Est, Centre National de la Recherche Scientifique ERL7240, Créteil 94000, France;6. Service d’ORL et de Chirurgie Cervicofaciale, Centre Hospitalier Intercommunal de Créteil & Groupe Hospitalier Henri Mondor-Albert Chenevier, Assistance Publique – Hôpitaux de Paris, Créteil 94000, France;7. Service de Génétique et d’Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique – Hôpitaux de Paris, Paris 75012, France;8. Unité de Pneumologie et Allergologie Pédiatrique, Hôpital des Enfants, Centre Hospitalier Universitaire, Toulouse 31300, France;9. Service d’Oto-Rhino-Laryngologie et de Chirurgie Cervico-Maxillo-Faciale, Hôpital Bicêtre, Assistance Publique – Hôpitaux de Paris, Le Kremlin-Bicêtre 94275, France;10. Savaid School of Medicine and College of Life Sciences, University of Chinese Academy of Sciences, Beijing 100049, China;11. Laboratoire de Microscopie Electronique, Service d’Anatomopathologie, Centre Hospitalier Intercommunal de Créteil, Créteil 94000, France;12. Service de Biologie de la Reproduction, Hôpital Bichat, Assistance Publique – Hôpitaux de Paris, Université Paris Diderot, Sorbonne Paris Cité, Paris 75018, France;13. Laboratoire d’Histologie Embryologie, Biologie de la Reproduction, Groupe Hospitalier Cochin-Broca-Hôtel Dieu, Assistance Publique – Hôpitaux de Paris, Paris 75014, France;14. Service de Pneumologie A, Hôpital Bichat, Assistance Publique – Hôpitaux de Paris, Paris 75018, France;1. Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany;2. Molecular & Clinical Medicine, University of Dundee, Dundee DD1 4HN, UK;3. Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK;4. Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK;5. Department of Pathology and Laboratory Medicine, Marsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA;6. Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA;7. Department of Pediatrics, Marsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA;8. Department of Medicine, Washington University School of Medicine, St Louis, MO 63110, USA;9. McDonnell Genome Institute, Department of Genetics, Washington University School of Medicine, St. Louis, MO 63108, USA;10. Department of Medicine, Marsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA;11. Cologne Center for Genomics, Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany;12. Institute of Medical Informatics, University of Muenster, 48149 Muenster, Germany;13. Department of Neurosurgery, University Hospital Muenster, 48149 Muenster, Germany;14. Children’s Hospital “Altona,” 22763 Hamburg, Germany;15. Paediatric Department, University Hospital Carl Gustav Carus Dresden, TU Dresden, 01307 Dresden, Germany;16. Clinical Genetics and Genomics, Royal Brompton and Harefield NHS Foundation Trust, SW3 6NP London, UK;17. National Heart and Lung Institute, Imperial College London, SW3 6LY London, UK;18. Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA |
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| Abstract: | Cilia are evolutionarily conserved structures that play key roles in diverse cell types. Motile cilia are involved in the most prominent ciliopathy called primary ciliary dyskinesia (PCD) that combines respiratory symptoms, male infertility, and, in nearly 50% cases, situs inversus. The diagnosis of PCD relies on the identification of ciliary abnormalities that mainly concern outer and/or inner dynein arms (ODA, IDA). PCD is a genetic condition, usually inherited as an autosomal recessive trait. To date, six genes have been clearly implicated in PCD. Two “major” genes, DNAI1 and DNAH5, underlie PCD in nearly half of the patients with ODA defects, whereas RPGR, DNAH11 and TXNDC3 are implicated in rare families with specific phenotypes (retinitis pigmentosa, abnormal beating of structurally normal cilia, and situs ambiguous, respectively). The relative contribution of DNAI2 is currently being assessed. In all the other patients with ODA or other ultrastructural defects, the causative genes remain to be identified. |
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