Mutations in DCHS1 cause mitral valve prolapse

Ronen Durst, Kimberly Sauls, David S. Peal, Annemarieke deVlaming, Katelynn Toomer, Maire Leyne, Monica Salani, Michael E. Talkowski, Harrison Brand, Maëlle Perrocheau, Charles Simpson, Christopher Jett, Matthew R. Stone, Florie Charles, Colby Chiang, Stacey N. Lynch, Nabila Bouatia-Naji, Francesca N. Delling, Lisa A. Freed, Christophe Tribouilloy, Thierry Le Tourneau, Hervé LeMarec, Leticia Fernandez-Friera, Jorge Solis, Daniel Trujillano, Stephan Ossowski, Xavier Estivill, Christian Dina, Patrick Bruneval, Adrian Chester, Jean-Jacques Schott, Kenneth D. Irvine, Yaopan Mao, Andy Wessels, Tahirali Motiwala, Michel Puceat, Yoshikazu Tsukasaki, Donald R. Menick, Harinath Kasiganesan, Xingju Nie, Ann-Marie Broome, Katherine Williams, Amanda Johnson, Roger R. Markwald, Xavier Jeunemaitre, Albert Hagege, Robert A. Levine, David J. Milan, Russell A. Norris () and Susan A. Slaugenhaupt ()
Additional contact information
Ronen Durst: Center for Human Genetic Research, Harvard Medical School
Kimberly Sauls: Cardiovascular Developmental Biology Center, Children's Research Institute, Medical University of South Carolina
David S. Peal: Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School
Annemarieke deVlaming: Cardiovascular Developmental Biology Center, Children's Research Institute, Medical University of South Carolina
Katelynn Toomer: Cardiovascular Developmental Biology Center, Children's Research Institute, Medical University of South Carolina
Maire Leyne: Center for Human Genetic Research, Harvard Medical School
Monica Salani: Center for Human Genetic Research, Harvard Medical School
Michael E. Talkowski: Center for Human Genetic Research, Harvard Medical School
Harrison Brand: Center for Human Genetic Research, Harvard Medical School
Maëlle Perrocheau: INSERM, UMR-970, Paris Cardiovascular Research Center
Charles Simpson: Center for Human Genetic Research, Harvard Medical School
Christopher Jett: Center for Human Genetic Research, Harvard Medical School
Matthew R. Stone: Center for Human Genetic Research, Harvard Medical School
Florie Charles: Center for Human Genetic Research, Harvard Medical School
Colby Chiang: Center for Human Genetic Research, Harvard Medical School
Stacey N. Lynch: Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School
Nabila Bouatia-Naji: INSERM, UMR-970, Paris Cardiovascular Research Center
Francesca N. Delling: Beth Israel Deaconess Medical Center, Harvard Medical School
Lisa A. Freed: Yale-New Haven Hospital Heart and Vascular Center, Yale School of Medicine
Christophe Tribouilloy: Department of Cardiology, University Hospital Amiens; INSERM U-1088, Jules Verne University of Picardie
Thierry Le Tourneau: Inserm U1087; Institut du Thorax; University Hospital
Hervé LeMarec: Inserm U1087; Institut du Thorax; University Hospital
Leticia Fernandez-Friera: Centro Nacional de Investigaciones Cardiovasculares, Carlos III (CNIC)
Jorge Solis: Centro Nacional de Investigaciones Cardiovasculares, Carlos III (CNIC)
Daniel Trujillano: Genetic Causes of Disease Group, Centre for Genomic Regulation (CRG)
Stephan Ossowski: Universitat Pompeu Fabra (UPF)
Xavier Estivill: Genetic Causes of Disease Group, Centre for Genomic Regulation (CRG)
Christian Dina: Inserm U1087; Institut du Thorax; University Hospital
Patrick Bruneval: Service d'Anatomie Pathologique, Hôpital Européen Georges Pompidou
Adrian Chester: National Heart and Lung Institute, Harefield, Heart Science Centre, Imperial College London
Jean-Jacques Schott: Inserm U1087; Institut du Thorax; University Hospital
Kenneth D. Irvine: Howard Hughes Medical Institute, Rutgers, the State University of New Jersey
Yaopan Mao: Howard Hughes Medical Institute, Rutgers, the State University of New Jersey
Andy Wessels: Cardiovascular Developmental Biology Center, Children's Research Institute, Medical University of South Carolina
Tahirali Motiwala: Cardiovascular Developmental Biology Center, Children's Research Institute, Medical University of South Carolina
Michel Puceat: INSERM UMR_S910, Team physiopathology of cardiac development Aix-Marseille University, Medical School La Timone
Yoshikazu Tsukasaki: University of Texas Health Science Center Northeast Tyler
Donald R. Menick: Gazes Cardiac Research Institute, Medical University of South Carolina
Harinath Kasiganesan: Gazes Cardiac Research Institute, Medical University of South Carolina
Xingju Nie: Medical University of South Carolina
Ann-Marie Broome: Medical University of South Carolina
Katherine Williams: Cardiovascular Developmental Biology Center, Children's Research Institute, Medical University of South Carolina
Amanda Johnson: Cardiovascular Developmental Biology Center, Children's Research Institute, Medical University of South Carolina
Roger R. Markwald: Cardiovascular Developmental Biology Center, Children's Research Institute, Medical University of South Carolina
Xavier Jeunemaitre: INSERM, UMR-970, Paris Cardiovascular Research Center
Albert Hagege: INSERM, UMR-970, Paris Cardiovascular Research Center
Robert A. Levine: Université Paris Descartes, Sorbonne Paris Cité, Faculty of Medicine
David J. Milan: Center for Human Genetic Research, Harvard Medical School
Russell A. Norris: Cardiovascular Developmental Biology Center, Children's Research Institute, Medical University of South Carolina
Susan A. Slaugenhaupt: Center for Human Genetic Research, Harvard Medical School

Nature, 2015, vol. 525, issue 7567, 109-113

Abstract: Two mutations in the gene DCHS1 are shown to cause non-syndromic mitral valve prolapse (MVP), a common cardiac valve disease; understanding the role of DCHS1 in mitral valve development and MVP pathogenesis holds therapeutic potential.

Date: 2015
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DOI: 10.1038/nature14670

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