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Mutations in DCHS1 cause mitral valve prolapse

Author

Listed:
  • Ronen Durst

    (Center for Human Genetic Research, Harvard Medical School
    Hadassah Hebrew University Medical Center)

  • 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
    Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital)

  • Harrison Brand

    (Center for Human Genetic Research, Harvard Medical School
    Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital)

  • 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
    Université Paris Descartes, Sorbonne Paris Cité, Faculty of Medicine)

  • 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
    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)
    Hospital Universitario Monteprincipe)

  • Jorge Solis

    (Centro Nacional de Investigaciones Cardiovasculares, Carlos III (CNIC)
    Hospital Universitario Monteprincipe)

  • Daniel Trujillano

    (Genetic Causes of Disease Group, Centre for Genomic Regulation (CRG)
    Universitat Pompeu Fabra (UPF)
    Hospital del Mar Medical Research Institute (IMIM)
    CIBER in Epidemiology and Public Health (CIBERESP))

  • Stephan Ossowski

    (Universitat Pompeu Fabra (UPF)
    Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG))

  • Xavier Estivill

    (Genetic Causes of Disease Group, Centre for Genomic Regulation (CRG)
    Universitat Pompeu Fabra (UPF)
    Hospital del Mar Medical Research Institute (IMIM)
    CIBER in Epidemiology and Public Health (CIBERESP))

  • Christian Dina

    (Inserm U1087; Institut du Thorax; University Hospital
    CNRS, UMR 6291
    Université de Nantes
    CHU Nantes, l’Institut du Thorax, Service de Cardiologie)

  • 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
    CNRS, UMR 6291
    Université de Nantes
    CHU Nantes, l’Institut du Thorax, Service de Cardiologie)

  • 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
    Université Paris Descartes, Sorbonne Paris Cité, Faculty of Medicine
    Assistance Publique – Hôpitaux de Paris, Hôpital Européen Georges Pompidou)

  • Albert Hagege

    (INSERM, UMR-970, Paris Cardiovascular Research Center
    Université Paris Descartes, Sorbonne Paris Cité, Faculty of Medicine
    Assistance Publique – Hôpitaux de Paris, Hôpital Européen Georges Pompidou)

  • Robert A. Levine

    (Université Paris Descartes, Sorbonne Paris Cité, Faculty of Medicine
    Cardiac Ultrasound Laboratory, Massachusetts General Hospital, Harvard Medical School)

  • David J. Milan

    (Center for Human Genetic Research, Harvard Medical School
    Cardiovascular Research Center, Massachusetts General Hospital, 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)

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.

Suggested Citation

  • Ronen Durst & Kimberly Sauls & David S. Peal & Annemarieke deVlaming & Katelynn Toomer & Maire Leyne & Monica Salani & Michael E. Talkowski & Harrison Brand & Maëlle Perrocheau & Charles Simpson & Chr, 2015. "Mutations in DCHS1 cause mitral valve prolapse," Nature, Nature, vol. 525(7567), pages 109-113, September.
    • Handle: RePEc:nat:nature:v:525:y:2015:i:7567:d:10.1038_nature14670
    DOI: 10.1038/nature14670
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    Cited by:

    1. Elliot Medina & Yathreb Easa & Daniel K. Lester & Eric K. Lau & David Sprinzak & Vincent C. Luca, 2023. "Structure of the planar cell polarity cadherins Fat4 and Dachsous1," Nature Communications, Nature, vol. 14(1), pages 1-11, December.
    2. Amrita Singh & Sameedha Thale & Tobias Leibner & Lucas Lamparter & Andrea Ricker & Harald Nüsse & Jürgen Klingauf & Milos Galic & Mario Ohlberger & Maja Matis, 2024. "Dynamic interplay of microtubule and actomyosin forces drive tissue extension," Nature Communications, Nature, vol. 15(1), pages 1-14, December.

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