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Open Access
Peer-reviewed
Research Article
Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings
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Jacoba J. Louw ,
Contributed equally to this work with: Jacoba J. Louw, Ricardo Nunes Bastos, Xiaowen Chen
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing
Affiliations Department of Congenital and Pediatric Cardiology, University Hospitals Leuven, Leuven, Belgium, Center for Human Genetics, University Hospitals and KU Leuven, Leuven, Belgium
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Ricardo Nunes Bastos ,
Contributed equally to this work with: Jacoba J. Louw, Ricardo Nunes Bastos, Xiaowen Chen
Roles Data curation, Formal analysis, Investigation, Methodology, Validation, Writing – original draft, Writing – review & editing
Affiliation Department of Biochemistry, University of Oxford, Oxford, United Kingdom
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Xiaowen Chen ,
Contributed equally to this work with: Jacoba J. Louw, Ricardo Nunes Bastos, Xiaowen Chen
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft
Affiliation Laboratory of Endothelial Molecular Biology, VIB Center for Cancer Biology, Department of Oncology, KU Leuven, Leuven, Belgium
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Céline Verdood,
Roles Data curation, Formal analysis, Investigation, Methodology
Affiliation Center for Human Genetics, University Hospitals and KU Leuven, Leuven, Belgium
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Anniek Corveleyn,
Roles Data curation, Supervision
Affiliation Center for Human Genetics, University Hospitals and KU Leuven, Leuven, Belgium
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Yaojuan Jia,
Roles Data curation
Affiliation Center for Human Genetics, University Hospitals and KU Leuven, Leuven, Belgium
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Jeroen Breckpot,
Roles Writing – review & editing
Affiliation Center for Human Genetics, University Hospitals and KU Leuven, Leuven, Belgium
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Marc Gewillig,
Roles Funding acquisition, Writing – review & editing
Affiliation Department of Congenital and Pediatric Cardiology, University Hospitals Leuven, Leuven, Belgium
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Hilde Peeters,
Roles Formal analysis, Methodology, Supervision
Affiliation Center for Human Genetics, University Hospitals and KU Leuven, Leuven, Belgium
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Massimo M. Santoro,
Roles Supervision, Writing – review & editing
Affiliation Department of Biology, University of Padua, Padua, Italy
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Francis Barr,
Roles Supervision, Writing – review & editing
Affiliation Department of Biochemistry, University of Oxford, Oxford, United Kingdom
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Koenraad Devriendt
Roles Conceptualization, Funding acquisition, Methodology, Supervision, Writing – review & editing
* E-mail: koenraad.devriendt@uzleuven.be
Affiliation Center for Human Genetics, University Hospitals and KU Leuven, Leuven, Belgium
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Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings
- Jacoba J. Louw,
- Ricardo Nunes Bastos,
- Xiaowen Chen,
- Céline Verdood,
- Anniek Corveleyn,
- Yaojuan Jia,
- Jeroen Breckpot,
- Marc Gewillig,
- Hilde Peeters,
- Massimo M. Santoro
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- Published: January 22, 2018
- https://doi.org/10.1371/journal.pgen.1007138