This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1002/humu.23196. This article is protected by copyright. All rights reserved. BRIEF report Human Mutation format (2 figures / tables) Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. Kristin D. Kernohan 1 , David A. Dyment 1,2 , Mihaela Pupavac 3 , Zvi Cramer 3 , Arran McBride 1 , Genevieve Bernard 3 , Isabella Straub 3 , Martine Tetreault 5 , Taila Hartley 1 , Lijia Huang 1 , Erick Sell 4 , Jacek Majewski 3,5 , David S. Rosenblatt 3 , Eric Shoubridge 3 , Aziz Mhanni 6 , Tara Myers 7 , Virginia Proud 8ϒ , Samanta Vergano 8 , Brooke Spangler 8 , Emily Farrow 9-10 , Jennifer Kussman 7 , Nicole Safina 7 , Care4Rare Consortium 1 , Carol Saunders 9-10 , Kym M. Boycott 1,2 , Isabelle Thiffault 9-10 1 Children’s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada 2 Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada 3 Department of Human Genetics, McGill University, Montréal, Québec, Canada 4 Division of Neurology, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada 5 McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada 6 Section of Genetics and Metabolism, Children’s Hospital and the Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, R3A 1S1, Canada