Primary cilia defects causing mitral valve prolapse

Author:

Toomer Katelynn A.1ORCID,Yu Mengyao23ORCID,Fulmer Diana1ORCID,Guo Lilong1,Moore Kelsey S.1ORCID,Moore Reece1,Drayton Ka’la D.1,Glover Janiece1,Peterson Neal1,Ramos-Ortiz Sandra1ORCID,Drohan Alex1,Catching Breiona J.1ORCID,Stairley Rebecca1ORCID,Wessels Andy1ORCID,Lipschutz Joshua H.45,Delling Francesca N.6,Jeunemaitre Xavier237,Dina Christian89ORCID,Collins Ryan L.10ORCID,Brand Harrison10,Talkowski Michael E.10ORCID,del Monte Federica11,Mukherjee Rupak11,Awgulewitsch Alexander1ORCID,Body Simon12,Hardiman Gary1314ORCID,Hazard E. Starr13ORCID,da Silveira Willian A.13,Wang Baolin15,Leyne Maire10,Durst Ronen16ORCID,Markwald Roger R.1,Le Scouarnec Solena8ORCID,Hagege Albert2317,Le Tourneau Thierry89ORCID,Kohl Peter18,Rog-Zielinska Eva A.18,Ellinor Patrick T.19ORCID,Levine Robert A.20,Milan David J.1921,Schott Jean-Jacques89ORCID,Bouatia-Naji Nabila23ORCID,Slaugenhaupt Susan A.10ORCID,Norris Russell A.1ORCID

Affiliation:

1. Cardiovascular Developmental Biology Center, Department of Regenerative Medicine and Cell Biology, College of Medicine, Children’s Research Institute, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425, USA.

2. INSERM, UMR-970, Paris Cardiovascular Research Center, 75015 Paris, France.

3. Paris Descartes University, Sorbonne Paris Cité, Faculty of Medicine, 75006 Paris, France.

4. Department of Medicine, Medical University of South Carolina, Charleston, SC 29425, USA.

5. Department of Medicine, Ralph H. Johnson Veterans Affairs Medical Center, Charleston, SC 29401, USA.

6. Department of Medicine, Division of Cardiology, University of California, San Francisco, San Francisco, CA 94143, USA.

7. Assistance Publique–Hôpitaux de Paris, Département de Génétique, Hôpital Européen Georges Pompidou, 75015 Paris, France.

8. INSERM, CNRS, Univ Nantes, L’Institut du Thorax, Nantes 44093, France.

9. CHU Nantes, L’Institut du Thorax, Service de Cardiologie, Nantes 44093, France.

10. Center for Genomic Medicine, Department of Neurology, Massachusetts General Hospital Research Institute, Harvard Medical School, 185 Cambridge St., Boston, MA 02114, USA.

11. Gazes Cardiac Research Institute, Division of Cardiology, Department of Medicine, Medical University of South Carolina, Charleston, SC 29425, USA.

12. Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA.

13. Center for Genomic Medicine, Medical University of South Carolina, 135 Cannon Street, Suite 303 MSC 835, Charleston, SC 29425, USA.

14. Faculty of Medicine, Health and Life Sciences School of Biological Sciences, Institute for Global Food Security (IGFS), Queen’s University Belfast, Belfast, Northern Ireland, BT7 1NN, UK.

15. Department of Genetic Medicine, Weill Medical College of Cornell University, New York, NY 10065, USA.

16. Cardiology Division, Hadassah Hebrew University Medical Center, POB 12000, Jerusalem, Israel.

17. Assistance Publique–Hôpitaux de Paris, Department of Cardiology, Hôpital Européen Georges Pompidou, 75015 Paris, France.

18. University Heart Center Freiburg, Bad Krozingen and Faculty of Medicine of the Albert-Ludwigs University Freiburg, Institute for Experimental Cardiovascular Medicine, Elsässerstr 2Q, 79110 Freiburg, Germany.

19. Cardiovascular Research Center, Cardiology Division, Massachusetts General Hospital Research Institute, Harvard Medical School, 55 Fruit Street, Boston, MA 02114, USA.

20. Cardiac Ultrasound Laboratory, Cardiology Division, Massachusetts General Hospital Research Institute, Harvard Medical School, 55 Fruit Street, Boston, MA 02114, USA.

21. Leducq Foundation, 265 Franklin Street, Suite 1902, Boston, MA, 02110, USA.

Abstract

Genetic variations in primary cilia genes cause defects during valve morphogenesis that can progress to mitral valve prolapse in the adult.

Funder

National Science Foundation

National Institutes of Health

National Institute of Mental Health

National Heart, Lung, and Blood Institute

National Institute of General Medical Sciences

Ellison Medical Foundation

National Institute of Diabetes and Digestive and Kidney Diseases

U.S. Department of Veterans Affairs

the European Research Council Advanced Grant CardioNECT

Fondation Leducq

Hassenfeld Scholar Program

American Heart Association

March of Dimes Foundation

French Ministry of Research

MGH Scholars Program

German Research Foundation Emmy Noether Fellowship

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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