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Mutations in numerous ARSs have been linked to a growing number of both autosomal dominant and autosomal recessive human diseases. The tyrosyl\u2010tRNA synthetase (YARS) links the amino acid tyrosine to its cognate tRNA. We report two siblings who presented with failure to thrive (FTT), hypertriglyceridemia, developmental delay, liver dysfunction, lung cysts, and abnormal subcortical white matter. Using exome sequencing the siblings were found to harbor bi\u2010allelic pathogenic\u2010appearing variants within the <jats:italic>YARS<\/jats:italic> gene (NM_003680.3):c.638C&gt;T p.(Pro213Leu) and c.1573G&gt;A p.(Gly525Arg). These <jats:italic>YARS<\/jats:italic> variants occur in the catalytic domain and the C\u2010terminal domain, respectively. Mutations in <jats:italic>YARS<\/jats:italic> have been previously associated with an autosomal dominant form of Charcot\u2010Marie\u2010Tooth (CMT); our findings suggest the disease spectrum associated with <jats:italic>YARS<\/jats:italic> dysregulation is broader than peripheral neuropathy. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37973","type":"journal-article","created":{"date-parts":[[2016,9,16]],"date-time":"2016-09-16T04:40:53Z","timestamp":1474000853000},"page":"126-134","source":"Crossref","is-referenced-by-count":41,"title":["A novel multisystem disease associated with recessive mutations in the tyrosyl\u2010tRNA synthetase (<i>YARS<\/i>) gene"],"prefix":"10.1002","volume":"173","author":[{"given":"Ma\u0142gorzata J. M.","family":"Nowaczyk","sequence":"first","affiliation":[{"name":"Department of Pathology and Molecular Medicine McMaster University Hamilton Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijia","family":"Huang","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Tarnopolsky","sequence":"additional","affiliation":[{"name":"Department of Paediatrics McMaster University Hamilton Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Schwartzentruber","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University Montr\u00e9al Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacek","family":"Majewski","sequence":"additional","affiliation":[{"name":"Department of Human 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