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Open Access
Peer-reviewed
Research Article
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy
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Mark T. Handley ,
Contributed equally to this work with: Mark T. Handley, Kaalak Reddy
Roles Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliations MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom, Section of Genetics, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, United Kigndom
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Kaalak Reddy ,
Contributed equally to this work with: Mark T. Handley, Kaalak Reddy
Roles Data curation, Formal analysis, Investigation, Writing – review & editing
Affiliations MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom, University of Florida College of Medicine, Center for NeuroGenetics, Gainesville, United States of America
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Jimi Wills,
Roles Formal analysis, Methodology, Writing – review & editing
Affiliation Edinburgh Cancer Research Centre, MRC Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom
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Elisabeth Rosser,
Roles Investigation
Affiliation Department of Clinical Genetics, Great Ormond St Hospital, London, United Kingdom
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Archith Kamath,
Roles Investigation
Affiliation Medical School, University of Oxford, John Radcliffe Hospital Oxford United Kingdom
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Mihail Halachev,
Roles Investigation
Affiliation MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom
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Gavin Falkous,
Roles Investigation
Affiliation Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom
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Denise Williams,
Roles Investigation
Affiliation Department of Clinical Genetics, Birmingham Women's and Children's NHSFT, Birmingham, United Kingdom
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Phillip Cox,
Roles Investigation
Affiliation Department of Histopathology, Birmingham Women's and Children's NHSFT, Birmingham United Kingdom
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Alison Meynert,
Roles Investigation
Affiliation MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom
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Eleanor S. Raymond,
Roles Investigation
Affiliation MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom
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Harris Morrison,
Roles Investigation
Affiliation MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom
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Stephen Brown,
Roles Investigation
Affiliation MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom
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Emma Allan,
Roles Investigation
Affiliation CBS-IGMM Transgenic Unit, University of Edinburgh, Edinburgh, United Kingdom
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Irene Aligianis,
Roles Investigation
Affiliation MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom
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Andrew P. Jackson,
Roles Conceptualization, Writing – review & editing
Affiliation MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom
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Bernard H. Ramsahoye,
Roles Investigation
Affiliation Centre for Genetic and Experimental Medicine, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom
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Alex von Kriegsheim,
Roles Formal analysis, Investigation
Affiliation Edinburgh Cancer Research Centre, MRC Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom
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Robert W. Taylor,
Roles Conceptualization, Supervision, Writing – review & editing
Affiliation Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom
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Andrew J. Finch,
Roles Conceptualization, Formal analysis, Investigation, Supervision
Affiliation Edinburgh Cancer Research Centre, MRC Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom
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David R. FitzPatrick
Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Supervision, Writing – original draft, Writing – review & editing
* E-mail: david.fitzpatrick@ed.ac.uk
Affiliation MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom
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ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy
- Mark T. Handley,
- Kaalak Reddy,
- Jimi Wills,
- Elisabeth Rosser,
- Archith Kamath,
- Mihail Halachev,
- Gavin Falkous,
- Denise Williams,
- Phillip Cox,
- Alison Meynert
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- Published: March 11, 2019
- https://doi.org/10.1371/journal.pgen.1007605