{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T07:17:53Z","timestamp":1785827873452,"version":"3.56.0"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Aminoacyl\u2010tRNA synthetases are enzymes that ensure accurate protein synthesis. Variants of the dual\u2010functional cytoplasmic human glutamyl\u2010prolyl\u2010tRNA synthetase, EPRS1, have been associated with leukodystrophy, diabetes and bone disease. Here, we report compound heterozygous variants in\n                    <jats:italic>EPRS1<\/jats:italic>\n                    in a 4\u2010year\u2010old female patient presenting with psychomotor developmental delay, seizures and deafness. Functional studies of these two missense mutations support major defects in enzymatic function in vitro and contributed to confirmation of the diagnosis.\n                  <\/jats:p>","DOI":"10.1111\/cge.14269","type":"journal-article","created":{"date-parts":[[2022,11,22]],"date-time":"2022-11-22T01:59:35Z","timestamp":1669082375000},"page":"358-363","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Aminoacylation\u2010defective bi\u2010allelic mutations in human\n                    <scp>EPRS1<\/scp>\n                    associated with psychomotor developmental delay, epilepsy, and deafness"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2878-9950","authenticated-orcid":false,"given":"Danni","family":"Jin","sequence":"first","affiliation":[{"name":"Department of Chemistry and Biochemistry Center for RNA Biology, Ohio State University  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheree A.","family":"Wek","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4959-309X","authenticated-orcid":false,"given":"Ricardo A.","family":"Cordova","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2087-5504","authenticated-orcid":false,"given":"Ronald C.","family":"Wek","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Indiana University School of Medicine  Indianapolis Indiana 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France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0354-4172","authenticated-orcid":false,"given":"Karin","family":"Musier\u2010Forsyth","sequence":"additional","affiliation":[{"name":"Department of Chemistry and Biochemistry Center for RNA Biology, Ohio State University  Columbus Ohio 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