Nature Communications (Feb 2017)
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
- Chiara Olcese,
- Mitali P. Patel,
- Amelia Shoemark,
- Santeri Kiviluoto,
- Marie Legendre,
- Hywel J. Williams,
- Cara K. Vaughan,
- Jane Hayward,
- Alice Goldenberg,
- Richard D. Emes,
- Mustafa M. Munye,
- Laura Dyer,
- Thomas Cahill,
- Jeremy Bevillard,
- Corinne Gehrig,
- Michel Guipponi,
- Sandra Chantot,
- Philippe Duquesnoy,
- Lucie Thomas,
- Ludovic Jeanson,
- Bruno Copin,
- Aline Tamalet,
- Christel Thauvin-Robinet,
- Jean- François Papon,
- Antoine Garin,
- Isabelle Pin,
- Gabriella Vera,
- Paul Aurora,
- Mahmoud R. Fassad,
- Lucy Jenkins,
- Christopher Boustred,
- Thomas Cullup,
- Mellisa Dixon,
- Alexandros Onoufriadis,
- Andrew Bush,
- Eddie M. K. Chung,
- Stylianos E. Antonarakis,
- Michael R. Loebinger,
- Robert Wilson,
- Miguel Armengot,
- Estelle Escudier,
- Claire Hogg,
- UK10K Rare Group,
- Serge Amselem,
- Zhaoxia Sun,
- Lucia Bartoloni,
- Jean-Louis Blouin,
- Hannah M. Mitchison
Affiliations
- Chiara Olcese
- Department of Genetic Medicine and Development, University of Geneva School of Medicine
- Mitali P. Patel
- Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health
- Amelia Shoemark
- Paediatric Department, Royal Brompton Hospital
- Santeri Kiviluoto
- Department of Genetics, Yale University School of Medicine
- Marie Legendre
- Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP
- Hywel J. Williams
- GOSgene, Genetics and Genomic Medicine Programme, University College London (UCL) Great Ormond Street Institute of Child Health
- Cara K. Vaughan
- Institute of Structural and Molecular Biology, University College London and Birkbeck College, Biological Sciences
- Jane Hayward
- Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health
- Alice Goldenberg
- Service de Génétique, CHU de Rouen, INSERM U1079, Université de Rouen, Centre Normand de Génomique Médicale et Médecine Personnalisée
- Richard D. Emes
- School of Veterinary Medicine and Science, University of Nottingham, Sutton Bonington Campus
- Mustafa M. Munye
- Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health
- Laura Dyer
- Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health
- Thomas Cahill
- Paediatric Department, Royal Brompton Hospital
- Jeremy Bevillard
- Department of Genetic Medicine and Development, University of Geneva School of Medicine
- Corinne Gehrig
- Department of Genetic Medicine and Development, University of Geneva School of Medicine
- Michel Guipponi
- Department of Genetic Medicine and Development, University of Geneva School of Medicine
- Sandra Chantot
- Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP
- Philippe Duquesnoy
- Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP
- Lucie Thomas
- Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP
- Ludovic Jeanson
- Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP
- Bruno Copin
- Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP
- Aline Tamalet
- Service de Pneumologie Pédiatrique, Centre National de Référence des Maladies Respiratoires Rares, Hôpital Armand-Trousseau, AP-HP
- Christel Thauvin-Robinet
- Centre de génétique, CHU Dijon Bourgogne, Équipe EA4271 GAD, Université de Bourgogne, Hôpital François Mitterrand
- Jean- François Papon
- Service d’Oto-Rhino-Laryngologie et de Chirurgie Cervico-Maxillo-Faciale, Hôpital Bicêtre, AP-HP
- Antoine Garin
- Service d’Oto-Rhino-Laryngologie et de Chirurgie Cervico-Maxillo-Faciale, Hôpital Bicêtre, AP-HP
- Isabelle Pin
- Pédiatrie, CHU Grenoble Alpes, INSERM U 1209, Institut for Advanced Biosciences, Université Grenoble Alpes
- Gabriella Vera
- Service de Génétique, CHU de Rouen, INSERM U1079, Université de Rouen, Centre Normand de Génomique Médicale et Médecine Personnalisée
- Paul Aurora
- Department of Paediatric Respiratory Medicine, Great Ormond Street Hospital for Children
- Mahmoud R. Fassad
- Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health
- Lucy Jenkins
- North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, Queen Square
- Christopher Boustred
- North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, Queen Square
- Thomas Cullup
- North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, Queen Square
- Mellisa Dixon
- Paediatric Department, Royal Brompton Hospital
- Alexandros Onoufriadis
- Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital
- Andrew Bush
- Paediatric Department, Royal Brompton Hospital
- Eddie M. K. Chung
- Population, Policy and Practice, University College London (UCL) Great Ormond Street Institute of Child Health
- Stylianos E. Antonarakis
- Department of Genetic Medicine and Development, University of Geneva School of Medicine
- Michael R. Loebinger
- Host Defence Unit, Respiratory Medicine, Royal Brompton Hospital
- Robert Wilson
- Host Defence Unit, Respiratory Medicine, Royal Brompton Hospital
- Miguel Armengot
- Rhinology and Primary Ciliary Dyskinesia Unit, General and University Hospital, Medical School, Valencia University
- Estelle Escudier
- Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP
- Claire Hogg
- Paediatric Department, Royal Brompton Hospital
- UK10K Rare Group
- Serge Amselem
- Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP
- Zhaoxia Sun
- Department of Genetics, Yale University School of Medicine
- Lucia Bartoloni
- Department of Genetic Medicine and Development, University of Geneva School of Medicine
- Jean-Louis Blouin
- Department of Genetic Medicine and Development, University of Geneva School of Medicine
- Hannah M. Mitchison
- Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health
- DOI
- https://doi.org/10.1038/ncomms14279
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 15
Abstract
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease resulting in reduced mucus clearance and impaired lung function. Here, the authors show that mutations in PIH1D3 are responsible for an X-linked form of PCD, affecting assembly of a subset of inner arm dyneins.
