{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T17:39:23Z","timestamp":1785346763806,"version":"3.55.0"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,12,10]],"date-time":"2020-12-10T00:00:00Z","timestamp":1607558400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Infantile liver failure syndrome type 1 (ILFS1) is a recently recognized autosomal recessive disorder caused by deleterious mutations in the leucyl\u2010tRNA synthetase 1 gene (<jats:italic>LARS1<\/jats:italic>). The LARS1 enzyme is responsible for incorporation of the amino acid leucine during protein polypeptide synthesis. Individuals with <jats:italic>LARS1<\/jats:italic> mutations typically show liver failure from infancy to early childhood during periods of illness or other physiological stress. While 25 patients from 15 families with ILFS1 have been reported in the literature, histological reports from autopsy findings are limited. We report here a premature male neonate who presented with severe intrauterine growth retardation, microcytic anemia, and fulminant liver failure, and who was a compound heterozygote for two novel deleterious mutations in <jats:italic>LARS1<\/jats:italic>. An autopsy showed fulminant hepatitis\u2010like hepatocellular injury and fibrogenesis in the liver and a lack of uniformity in skeletal muscle, accompanied by the disruption of striated muscle fibers. Striking dysgenesis in skeletal muscle detected in the present case indicates the effect of <jats:italic>LARS1<\/jats:italic> functional deficiency on the musculature. Whole\u2010exome sequencing may be useful for neonates with unexplained early liver failure if extensive genetic and metabolic testing is inconclusive.<\/jats:p>","DOI":"10.1002\/ajmg.a.62012","type":"journal-article","created":{"date-parts":[[2020,12,11]],"date-time":"2020-12-11T00:15:00Z","timestamp":1607645700000},"page":"866-870","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel <scp><i>LARS1<\/i><\/scp> mutations"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3148-9892","authenticated-orcid":false,"given":"Katsuya","family":"Hirata","sequence":"first","affiliation":[{"name":"Department of Neonatal Medicine Osaka Women's and Children's Hospital  Izumi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Osaka Women's and Children's Hospital  Izumi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chihiro","family":"Ichikawa","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Osaka Women's and Children's Hospital  Izumi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shouta","family":"Inoue","sequence":"additional","affiliation":[{"name":"Department of Neonatal Medicine Osaka Women's and Children's Hospital  Izumi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masatoshi","family":"Nozaki","sequence":"additional","affiliation":[{"name":"Department of Neonatal Medicine Osaka Women's and Children's Hospital  Izumi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimihiko","family":"Banno","sequence":"additional","affiliation":[{"name":"Department of Physiology II Nara Medical University  Nara Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7311-4135","authenticated-orcid":false,"given":"Toshiki","family":"Takenouchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine  Tokyo Japan"},{"name":"Center for Medical Genetics Keio University School of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8122-7180","authenticated-orcid":false,"given":"Hisato","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,12,10]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1620\/tjem.221.181"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2015.07.112"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jp.7211137"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.04.017"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9849-1"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0048-y"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0904-4"},{"issue":"8","key":"e_1_2_9_10_1","first-page":"913","article-title":"Clinical feature and molecular diagnostic analysis of the first non\u2010caucasian child with infantile liver failure syndrome type 1","volume":"19","author":"Lin W. 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