Advertisement
Research Article

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

  • Dirk J. Lefeber equal contributor mail,

    equal contributor Contributed equally to this work with: Dirk J. Lefeber, Arjan P. M. de Brouwer

    D.Lefeber@neuro.umcn.nl

    Affiliations: Department of Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    X
  • Arjan P. M. de Brouwer equal contributor,

    equal contributor Contributed equally to this work with: Dirk J. Lefeber, Arjan P. M. de Brouwer

    Affiliation: Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands

    X
  • Eva Morava,

    Affiliation: Department of Pediatrics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    X
  • Moniek Riemersma,

    Affiliation: Department of Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    X
  • Janneke H. M. Schuurs-Hoeijmakers,

    Affiliation: Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands

    X
  • Birgit Absmanner,

    Affiliation: Department of Cell Biology and Plant Biochemistry, University of Regensburg, Regensburg, Germany

    X
  • Kiek Verrijp,

    Affiliation: Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    X
  • Willem M. R. van den Akker,

    Affiliation: Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands

    X
  • Karin Huijben,

    Affiliation: Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    X
  • Gerry Steenbergen,

    Affiliation: Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    X
  • Jeroen van Reeuwijk,

    Affiliation: Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands

    X
  • Adam Jozwiak,

    Affiliation: Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland

    X
  • Nili Zucker,

    Affiliation: Heart Institute, Schneider Children's Medical Centre of Israel, Petach Tikwa, Israel

    X
  • Avraham Lorber,

    Affiliation: Metabolic Unit and Unit of Pediatric Cardiology, Meyer Children's Hospital, Rambam Medical Center, Technion–Israel Institute of Technology, Haifa, Israel

    X
  • Martin Lammens,

    Affiliation: Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    X
  • Carlos Knopf,

    Affiliation: Metabolic Unit and Unit of Pediatric Cardiology, Meyer Children's Hospital, Rambam Medical Center, Technion–Israel Institute of Technology, Haifa, Israel

    X
  • Hans van Bokhoven,

    Affiliation: Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands

    X
  • Stephanie Grünewald,

    Affiliation: Great Ormond Street Hospital, UCL Institute of Child Health, University College London, London, United Kingdom

    X
  • Ludwig Lehle,

    Affiliation: Department of Cell Biology and Plant Biochemistry, University of Regensburg, Regensburg, Germany

    X
  • Livia Kapusta,

    Affiliation: Pediatric Cardiology Unit, Edith Wolfson Medical Center, Holon, Israel

    X
  • Hanna Mandel ,

    Affiliation: Metabolic Unit and Unit of Pediatric Cardiology, Meyer Children's Hospital, Rambam Medical Center, Technion–Israel Institute of Technology, Haifa, Israel

    These authors also contributed equally to this work.

    X
  • Ron A. Wevers

    Affiliation: Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    These authors also contributed equally to this work.

    X
  • Published: December 29, 2011
  • DOI: 10.1371/journal.pgen.1002427

About the Authors

Dirk J. Lefeber, Moniek Riemersma
Department of Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Dirk J. Lefeber, Karin Huijben, Gerry Steenbergen, Ron A. Wevers
Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Arjan P. M. de Brouwer, Janneke H. M. Schuurs-Hoeijmakers, Willem M. R. van den Akker, Jeroen van Reeuwijk, Hans van Bokhoven
Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands
Eva Morava
Department of Pediatrics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Birgit Absmanner, Ludwig Lehle
Department of Cell Biology and Plant Biochemistry, University of Regensburg, Regensburg, Germany
Kiek Verrijp, Martin Lammens
Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Adam Jozwiak
Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland
Nili Zucker
Heart Institute, Schneider Children's Medical Centre of Israel, Petach Tikwa, Israel
Avraham Lorber, Carlos Knopf, Hanna Mandel
Metabolic Unit and Unit of Pediatric Cardiology, Meyer Children's Hospital, Rambam Medical Center, Technion–Israel Institute of Technology, Haifa, Israel
Stephanie Grünewald
Great Ormond Street Hospital, UCL Institute of Child Health, University College London, London, United Kingdom
Livia Kapusta
Pediatric Cardiology Unit, Edith Wolfson Medical Center, Holon, Israel

Corresponding Author

Email: D.Lefeber@neuro.umcn.nl

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: DJL APMdB EM HvB HM RAW. Performed the experiments: APMdB MR JHMS-H KV KH GS JvR AJ CK BA. Analyzed the data: DJL APMdB EM NZ AL ML SG LK HM LL. Contributed reagents/materials/analysis tools: AJ WMRvdA. Wrote the paper: DJL APMdB EM HM RAW.