Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects

Author:

Onoufriadis Alexandros12,Shoemark Amelia3,Schmidts Miriam1,Patel Mitali1,Jimenez Gina45,Liu Hui45,Thomas Biju6,Dixon Mellisa3,Hirst Robert A.6,Rutman Andrew6,Burgoyne Thomas7,Williams Christopher6,Scully Juliet1,Bolard Florence8,Lafitte Jean-Jacques9,Beales Philip L.1,Hogg Claire3,Yang Pinfen10,Chung Eddie M.K.11,Emes Richard D.1213,O'Callaghan Christopher614,Bouvagnet Patrice4515,Mitchison Hannah M.1,

Affiliation:

1. Molecular Medicine Unit and Birth Defects Research Centre, Institute of Child Health, University College London, London WC1N 1EH, UK

2. Present address: Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK

3. Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, Sydney Street, London SW3 6NP, UK

4. Laboratoire Cardiogénétique, Equipe d'Accueil 4173, Université Lyon 1, Hôpital Nord-Ouest, Villefranche sur Saône, Lyon, France

5. Laboratoire Cardiogénétique, Hospices Civils de Lyon, Groupe Hospitalier Est, 69677 Bron, France

6. Department of Infection, Immunity and Inflammation, Division of Child Health, CSB, University of Leicester, LeicesterLE2 7LX, UK

7. Institute of Ophthalmology, University College London, London EC1V 9EL, UK

8. Service de Pneumologie, Centre Hospitalier Régional de Roubaix, Hôpital Victor Provo, Roubaix, France

9. Département de Pneumologie, Centre Hospitalier Régional Universitaire de Lille, Hôpital Albert Calmette, Université Lille 2, Lille, France

10. Department of Biology, Marquette University, Milwaukee, WI 53233, USA

11. General and Adolescent Paediatric Unit, Institute of Child Health, University College London, London, UK

12. School of Veterinary Medicine and Science, University of Nottingham, Leicestershire LE12 5RD, UK

13. Advanced Data Analysis Centre, University of Nottingham, Sutton Bonington Campus, Leicestershire LE12 5RD, UK

14. Department of Respiratory Medicine, Portex Unit, Institute of Child Health, University College London and Great Ormond Street Hospital, 30 Guilford Street, LondonWC1N 1EH, UK

15. Service de Cardiologie Pédiatrique, Hospices Civils de Lyon, Groupe Hospitalier Est, 69677 Bron, France

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

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