Andrea Accogli, Sheng-Jia Lin, Mariasavina Severino, Sung-Hoon Kim, Kevin Huang, Clarissa Rocca, Megan Landsverk, Maha Zaki, Almundher Al-Maawali, Varunvenkat M Srinivasan, Khalid Al-Thihli, G Bradly Schaefer, Monica Davis, Davide Tonduti, Chiara Doneda, Lara M Marten, Chris Mühlhausen, Maria Gomez, Eleonora Lamantea, Rafael Mena, Mathilde Nizon, Vincent Procaccio, Amber Begtrup, Aida Telegrafi, Hong Cui, Heidi L Schulz, Julia Mohr, Saskia Biskup, Mariana Amina Loos, Hilda Verónica Aráoz, Vincenzo Salpietro, Laura Davis Keppen, Manali Chitre, Cassidy Petree, Lucy Raymond, Julie Vogt, Lindsey B Swayer, Alice A Basinger, Signe Vandal Pedersen, Toni S Pearson, Dorothy K Grange, Lokesh Lingapp, Paige McDunnah, Rita Horvath, Benjamin Cogne, Bertrand Isidor, Andreas Hahn, Karen Gripp, Seyed Mehdi Jafarnejad, Elsebet Ostergaard, Carlos E Prada, Daniele Ghezzi, Vykuntaraju K Gowda, Robert W Taylor, Nahum Sonenberg, Henry Houlden, Marie Sissler, Gaurav K Varshney, Reza Maroofian
PURPOSE: Biallelic variants in TARS2, encoding the mitochondrial threonyl-tRNA-synthetase, have been reported in a small group of individuals displaying a neurodevelopmental phenotype, but with limited neuroradiological data and insufficient evidence for causality of the variants. METHODS: Exome or genome sequencing was carried out in 15 families. Clinical and neuroradiological evaluation was performed for all affected individuals, including review of 10 previously reported individuals...
July 13, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics