{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T14:53:46Z","timestamp":1793717626070,"version":"4.6.1"},"reference-count":28,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2014,10,20]],"date-time":"2014-10-20T00:00:00Z","timestamp":1413763200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:p>Aminoacyl\u2013transfer ribonucleic acid (RNA) synthetases (ARSs) are a group of enzymes required for the first step of protein translation. Each aminoacyl\u2013transfer RNA synthetase links a specific amino acid to its corresponding transfer RNA component within the cytoplasm, mitochondria, or both. Mutations in ARSs have been linked to a growing number of diseases. Lysyl\u2013transfer RNA synthetase (KARS) links the amino acid lysine to its cognate transfer RNA. We report 2 siblings with severe infantile visual loss, progressive microcephaly, developmental delay, seizures, and abnormal subcortical white matter. Exome sequencing identified mutations within the KARS gene (NM_005548.2):c.1312C&gt;T; p.Arg438Trp and c.1573G&gt;A; p.Glu525Lys occurring within a highly conserved region of the catalytic domain. Our patients\u2019 phenotype is remarkably similar to a phenotype recently reported in glutaminyl\u2013transfer RNA synthetase ( QARS), another bifunctional ARS gene. This finding expands the phenotypic spectrum associated with mutations in KARS and draws attention to aminoacyl\u2013transfer RNA synthetase as a group of enzymes that are increasingly being implicated in human disease.<\/jats:p>","DOI":"10.1177\/0883073814553272","type":"journal-article","created":{"date-parts":[[2014,10,21]],"date-time":"2014-10-21T02:07:24Z","timestamp":1413857244000},"page":"1037-1043","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":55,"title":["Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl\u2013Transfer Ribonucleic Acid (RNA) Synthetase (\n                    <i>KARS<\/i>\n                    ) Mutations"],"prefix":"10.1177","volume":"30","author":[{"given":"Hugh J.","family":"McMillan","sequence":"first","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Humphreys","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Smith","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Schwartzentruber","sequence":"additional","affiliation":[{"name":"McGill University and Genome Quebec Innovation Centre, Montr\u00e9al, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pranesh","family":"Chakraborty","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis E.","family":"Bulman","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chandree L.","family":"Beaulieu","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"FORGE Canada Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacek","family":"Majewski","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montr\u00e9al, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kym M.","family":"Boycott","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael T.","family":"Geraghty","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, 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