Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K. Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J. M. Pruijn, Pedro F. Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H. Schoots, Jan A. Smeitink, Maciej J. Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel A. Fernández-Moreno, Hagit N. Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg and Johan L. K. Van Hove ()
Additional contact information
Marisa W. Friederich: University of Colorado
Sharita Timal: Radboud University Medical Center
Christopher A. Powell: University of Cambridge
Cristina Dallabona: University of Parma
Alina Kurolap: The Genetics Institute, Rambam Health Care Campus
Sara Palacios-Zambrano: Universidad Autónoma de Madrid
Drago Bratkovic: SA Pathology, Women and Children’s Hospital Adelaide
Terry G. J. Derks: University Medical Center Groningen, University of Groningen
David Bick: HudsonAlpha Institute for Biotechnology
Katelijne Bouman: University of Groningen
Kathryn C. Chatfield: University of Colorado
Nadine Damouny-Naoum: The Genetics Institute, Rambam Health Care Campus
Megan K. Dishop: University of Colorado
Tzipora C. Falik-Zaccai: Institute of Human Genetics, Galilee Medical Center
Fuad Fares: University of Haifa
Ayalla Fedida: Institute of Human Genetics, Galilee Medical Center
Ileana Ferrero: University of Parma
Renata C. Gallagher: University of Colorado
Rafael Garesse: Universidad Autónoma de Madrid
Micol Gilberti: University of Parma
Cristina González: Universidad Autónoma de Madrid
Katherine Gowan: University of Colorado
Clair Habib: Bnai Zion Medical Center
Rebecca K. Halligan: SA Pathology, Women and Children’s Hospital Adelaide
Limor Kalfon: Institute of Human Genetics, Galilee Medical Center
Kaz Knight: University of Colorado
Dirk Lefeber: Radboud University Medical Center
Laura Mamblona: Universidad Autónoma de Madrid
Hanna Mandel: Technion – Israel Institute of Technology
Adi Mory: The Genetics Institute, Rambam Health Care Campus
John Ottoson: University of Colorado
Tamar Paperna: The Genetics Institute, Rambam Health Care Campus
Ger J. M. Pruijn: Radboud University
Pedro F. Rebelo-Guiomar: University of Cambridge
Ann Saada: Hadassah-Hebrew University Medical Center
Bruno Sainz: Universidad Autónoma de Madrid
Hayley Salvemini: SA Pathology, Women and Children’s Hospital Adelaide
Mirthe H. Schoots: University Medical Center Groningen, University of Groningen
Jan A. Smeitink: Radboud University Medical Center
Maciej J. Szukszto: University of Cambridge
Hendrik J. ter Horst: University Medical Center Groningen, University of Groningen
Frans van den Brandt: Radboud University Medical Center
Francjan J. van Spronsen: University Medical Center Groningen, University of Groningen
Joris A. Veltman: Radboud University Medical Center
Eric Wartchow: University of Colorado
Liesbeth T. Wintjes: Radboud University Medical Center
Yaniv Zohar: Institute of Pathology, Rambam Health Care Campus
Miguel A. Fernández-Moreno: Universidad Autónoma de Madrid
Hagit N. Baris: The Genetics Institute, Rambam Health Care Campus
Claudia Donnini: University of Parma
Michal Minczuk: University of Cambridge
Richard J. Rodenburg: Radboud University Medical Center
Johan L. K. Van Hove: University of Colorado

Nature Communications, 2018, vol. 9, issue 1, 1-14

Abstract: Mitochondrial protein synthesis requires charging a mitochondrial tRNA with its amino acid. Here, the authors describe pathogenic variants in the GatCAB protein complex genes required for the generation of glutaminyl-mt-tRNAGln, that impairs mitochondrial translation and presents with cardiomyopathy.

Date: 2018
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DOI: 10.1038/s41467-018-06250-w

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