Ontology highlight
ABSTRACT:
SUBMITTER: Kopajtich R
PROVIDER: S-EPMC4974065 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Kopajtich Robert R Murayama Kei K Janecke Andreas R AR Haack Tobias B TB Breuer Maximilian M Knisely A S AS Harting Inga I Ohashi Toya T Okazaki Yasushi Y Watanabe Daisaku D Tokuzawa Yoshimi Y Kotzaeridou Urania U Kölker Stefan S Sauer Sven S Carl Matthias M Straub Simon S Entenmann Andreas A Gizewski Elke E Feichtinger René G RG Mayr Johannes A JA Lackner Karoline K Strom Tim M TM Meitinger Thomas T Müller Thomas T Ohtake Akira A Hoffmann Georg F GF Prokisch Holger H Staufner Christian C
American journal of human genetics 20160714 2
tRNA synthetase deficiencies are a growing group of genetic diseases associated with tissue-specific, mostly neurological, phenotypes. In cattle, cytosolic isoleucyl-tRNA synthetase (IARS) missense mutations cause hereditary weak calf syndrome. Exome sequencing in three unrelated individuals with severe prenatal-onset growth retardation, intellectual disability, and muscular hypotonia revealed biallelic mutations in IARS. Studies in yeast confirmed the pathogenicity of identified mutations. Two ...[more]