{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T20:24:37Z","timestamp":1785183877358,"version":"3.55.0"},"reference-count":14,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2022,12,5]],"date-time":"2022-12-05T00:00:00Z","timestamp":1670198400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,12,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>NARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh\/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 and added type 1 diabetes mellitus (DM), which was not previously described in the phenotype spectrum of this disease. A 4.5-month-old girl presented with hearing loss, hypotonia, refractory myoclonic epilepsy, severe developmental delay and large subdural hemorrhage. In the first year of the follow-up, type 1 DM developed. A homozygous missense mutation, [c.500 A&amp;gt;G, p.H167R] in the NARS2 gene was detected in the trio-based whole-exome sequencing (WES). In this disease, in addition to multi-organ involvement, type 1 DM may also develop, as in our case. Since it is a mitochondrial disease, the decision to treat with valproic acid should be reconsidered. The long diagnostic process can be shortened with WES.<\/jats:p>","DOI":"10.1093\/tropej\/fmac108","type":"journal-article","created":{"date-parts":[[2023,1,20]],"date-time":"2023-01-20T09:51:52Z","timestamp":1674208312000},"source":"Crossref","is-referenced-by-count":11,"title":["A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype"],"prefix":"10.1093","volume":"69","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7108-6839","authenticated-orcid":false,"given":"Turgay","family":"Cokyaman","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, \u00c7anakkale Onsekiz Mart University Faculty of Medicine , \u00c7anakkale 17100, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7911-9981","authenticated-orcid":false,"given":"Huriye","family":"Cetin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, \u00c7anakkale Onsekiz Mart University Faculty of Medicine , \u00c7anakkale 17100, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5369-8797","authenticated-orcid":false,"given":"Durmus","family":"Dogan","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, \u00c7anakkale Onsekiz Mart University Faculty of Medicine , \u00c7anakkale 17100, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7191-2240","authenticated-orcid":false,"given":"Fatma","family":"Silan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, \u00c7anakkale Onsekiz Mart University Faculty of Medicine , \u00c7anakkale 17100, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,1,20]]},"reference":[{"key":"2023012009514861900_fmac108-B1","doi-asserted-by":"crossref","first-page":"787956","DOI":"10.1155\/2014\/787956","article-title":"The mitochondrial aminoacyl tRNA synthetases: genes and syndromes","volume":"2014","author":"Diodato","year":"2014","journal-title":"Int J Cell Biol"},{"key":"2023012009514861900_fmac108-B2","doi-asserted-by":"crossref","first-page":"4805","DOI":"10.1021\/bi047527z","article-title":"Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS","volume":"44","author":"Bonnefond","year":"2005","journal-title":"Biochemistry"},{"key":"2023012009514861900_fmac108-B3","doi-asserted-by":"crossref","first-page":"e1005097","DOI":"10.1371\/journal.pgen.1005097","article-title":"Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome","volume":"11","author":"Simon","year":"2015","journal-title":"PLoS Genet"},{"key":"2023012009514861900_fmac108-B4","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1002\/humu.22728","article-title":"Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)","volume":"36","author":"Vanlander","year":"2015","journal-title":"Hum Mutat"},{"key":"2023012009514861900_fmac108-B5","author":"OMIM (omim.org)"},{"key":"2023012009514861900_fmac108-B6","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/mgg3.115","article-title":"Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome","volume":"3","author":"Sofou","year":"2015","journal-title":"Mol Genet Genomic 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syndrome","volume":"188","author":"Yagasaki","year":"2022","journal-title":"Am J Med Genet A."},{"key":"2023012009514861900_fmac108-B10","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1007\/s10048-021-00659-0","article-title":"Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review","volume":"22","author":"\u0160t\u011brbov\u00e1","year":"2021","journal-title":"Neurogenetics"},{"key":"2023012009514861900_fmac108-B11","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.pediatrneurol.2018.07.014","article-title":"Lethal NARS2-related disorder associated with rapidly progressive intractable epilepsy and global brain atrophy","volume":"89","author":"Seaver","year":"2018","journal-title":"Pediatr Neurol"},{"key":"2023012009514861900_fmac108-B12","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.ejpn.2021.01.012","article-title":"The phenotypic 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