{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T04:06:04Z","timestamp":1789185964226,"version":"build-2803163510"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T00:00:00Z","timestamp":1739836800000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["GM136441"],"award-info":[{"award-number":["GM136441"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["T32GM007315"],"award-info":[{"award-number":["T32GM007315"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["T32GM149391"],"award-info":[{"award-number":["T32GM149391"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["T32GM007863"],"award-info":[{"award-number":["T32GM007863"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["F31NS113515"],"award-info":[{"award-number":["F31NS113515"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["F31HD111131"],"award-info":[{"award-number":["F31HD111131"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Mutations in cysteinyl\u2010tRNA synthetase (\n                      <jats:italic>CARS1<\/jats:italic>\n                      ) have been implicated in a multisystem disease including microcephaly, developmental delay, and brittle hair and nail phenotypes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Here, we present a patient with hepatopathy, hypothyroidism, short stature, developmental delay, microcephaly, muscular hypotonia, brittle hair, and ataxia. The patient underwent exome sequencing to identify potentially pathogenic genetic variants. In addition, identified variants were assessed using yeast complementation assays to determine functional consequences.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Exome sequencing determined that the patient is compound heterozygous for p.Arg341His and p.Arg370Trp\n                      <jats:italic>CARS1<\/jats:italic>\n                      . Yeast complementation assays showed that the p.Arg341His variant has a hypomorphic effect and that the p.Arg370Trp variant causes a complete loss\u2010of\u2010function effect.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study is the second report of pathogenic\n                      <jats:italic>CARS1<\/jats:italic>\n                      variants and expands the allelic and phenotypic heterogeneity of\n                      <jats:italic>CARS1<\/jats:italic>\n                      \u2010associated disease.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70078","type":"journal-article","created":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T03:09:23Z","timestamp":1739848163000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["RETRACTED: Loss\u2010of\u2010Function\n                    <scp>\n                      <i>CARS1<\/i>\n                    <\/scp>\n                    Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2387-5067","authenticated-orcid":false,"given":"Christina","family":"Del Greco","sequence":"first","affiliation":[{"name":"Department of Human Genetics University of Michigan Medical School  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Molly E.","family":"Kuo","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Michigan Medical School  Ann Arbor Michigan USA"},{"name":"Cellular and Molecular Biology Program University of Michigan Medical School  Ann Arbor Michigan USA"},{"name":"Medical Scientist Training Program University of Michigan Medical School  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desiree E. C.","family":"Smith","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases, Amsterdam UMC University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marisa I.","family":"Mendes","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases, Amsterdam UMC University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gajja S.","family":"Salamons","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases, Amsterdam UMC University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marek","family":"Nemcovic","sequence":"additional","affiliation":[{"name":"Institute of Chemistry, Department of Glycobiology Slovak Academy of Sciences  Bratislava Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebeka","family":"Kodrikova","sequence":"additional","affiliation":[{"name":"Institute of Chemistry, Department of Glycobiology Slovak Academy of Sciences  Bratislava Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3858-3518","authenticated-orcid":false,"given":"Sergej","family":"Sestak","sequence":"additional","affiliation":[{"name":"Institute of Chemistry, Department of Glycobiology Slovak Academy of Sciences  Bratislava Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malina","family":"Stancheva","sequence":"additional","affiliation":[{"name":"Medico\u2010Dental Center Mediva  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Antonellis","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Michigan Medical School  Ann Arbor Michigan USA"},{"name":"Cellular and Molecular Biology Program University of Michigan Medical School  Ann Arbor Michigan USA"},{"name":"Department of Neurology University of Michigan Medical School  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,2,18]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.9.081307.164204"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23424"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00330984"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab123"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14120"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0094659"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0048-y"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-023-01662-0"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13614"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2019.11.007"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.01.006"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0904-4"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx231"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.xpro.2020.100182"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.04.005"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13943"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy344"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.06.006"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23595"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1210\/jendso\/bvaa196"}],"updated-by":[{"DOI":"10.1002\/mgg3.70301","type":"retraction","label":"Retraction","source":"publisher","updated":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T00:00:00Z","timestamp":1789084800000}}],"container-title":["Molecular Genetics &amp; 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