{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T01:26:23Z","timestamp":1780622783016,"version":"3.54.1"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2025-0072_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>The <jats:italic>DNAJC3<\/jats:italic> gene encodes a protein that acts as a cochaperone of binding immunoglobulin protein (BiP), a major member of the heat shock protein 70 (HSP70) family, which is found in the endoplasmic reticulum (ER) and promotes normal protein folding. Loss-of-function mutations in <jats:italic>DNAJC3<\/jats:italic> lead to early-onset diabetes and multisystemic neurodegeneration. In this article, we report a case of monogenic syndromic diabetes caused by a previously undescribed <jats:italic>DNAJC3<\/jats:italic> variant.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2025-0072_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 15-year-old 5-month-old girl with polyuria and polydipsia for the last 2\u20133\u00a0months was diagnosed and treated as diabetic ketoacidosis at the center where she was admitted with complaints of general condition disorder and frequent breathing. Her laboratory findings were HbA<jats:sub>1c<\/jats:sub> 15.1\u202f%, serum insulin 7.83\u202fm\u202fU\/L, C-peptide 0.78\u202f\u03bcg\/L. Tests for autoimmune diabetes markers were negative. Physical examination revealed severe short stature 141.4\u202fcm (\u22123.62 SDS). Sensorineural hearing loss developed 5\u00a0months after the diagnosis of diabetes and intellectual functions were impaired. Neurologic examination revealed marked ataxia. Monogenic syndromic diabetes mellitus with multisystemic neurodegeneration including juvenile onset diabetes mellitus, ataxia, short stature and sensorineural hearing loss was considered. Exome sequencing and CNV (Copy Number Variation) analysis revealed a novel homozygous c.1244G&gt;C (p.Arg415Pro) variant in <jats:italic>DNAJC3<\/jats:italic> gene.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2025-0072_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This case supports the wide phenotypic spectrum and multisystem involvement potential of <jats:italic>DNAJC3<\/jats:italic> variants and demonstrates the need to increase awareness in the diagnostic process of these rare genetic disorders..<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2025-0072","type":"journal-article","created":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T04:56:37Z","timestamp":1750308997000},"page":"991-995","source":"Crossref","is-referenced-by-count":2,"title":["A novel homozygous missense <i>DNAJC3<\/i> variant in syndromic juvenile-onset diabetes"],"prefix":"10.1515","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1597-8418","authenticated-orcid":false,"given":"Eda","family":"Mengen","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology, Faculty of Medicine , \u00c7ukurova University , 01330 , Adana , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7659-0500","authenticated-orcid":false,"given":"Deniz","family":"Kor","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition , \u00c7ukurova University Faculty of Medicine , Adana , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0529-2404","authenticated-orcid":false,"given":"Fatma Derya","family":"Bulut","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition , \u00c7ukurova University Faculty of Medicine , Adana , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6176-8986","authenticated-orcid":false,"given":"Leman Damla","family":"Kotan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Faculty of Medicine , \u00c7ukurova University , 01330 , Adana , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5654-247X","authenticated-orcid":false,"given":"\u0130hsan","family":"Turan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Faculty of Medicine , \u00c7ukurova University , 01330 , Adana , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9753-381X","authenticated-orcid":false,"given":"Bilgin","family":"Y\u00fcksel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Faculty of Medicine , \u00c7ukurova University , 01330 , Adana , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7862-3038","authenticated-orcid":false,"given":"Neslihan \u00d6nenli","family":"Mungan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism and Nutrition , \u00c7ukurova University Faculty of Medicine , Adana , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2025,6,20]]},"reference":[{"key":"2025091715550578813_j_jpem-2025-0072_ref_001","doi-asserted-by":"crossref","unstructured":"Stone, SI, Abreu, D, McGill, JB, Urano, F. Monogenic and syndromic diabetes due to endoplasmic reticulum stress. J Diabet Complicat 2021;35:107618. https:\/\/doi.org\/10.1016\/j.jdiacomp.2020.107618.","DOI":"10.1016\/j.jdiacomp.2020.107618"},{"key":"2025091715550578813_j_jpem-2025-0072_ref_002","doi-asserted-by":"crossref","unstructured":"Eizirik, DL, Cnop, M. ER stress in pancreatic beta cells: the thin red line between adaptation and failure. Sci Signal 2010;3:pe7. https:\/\/doi.org\/10.1126\/scisignal.3110pe7.","DOI":"10.1126\/scisignal.3110pe7"},{"key":"2025091715550578813_j_jpem-2025-0072_ref_003","doi-asserted-by":"crossref","unstructured":"Oslowski, CM, Urano, F. The binary switch that controls the life and death decisions of ER stressed \u03b2 cells. Curr Opin Cell Biol 2011;23:207\u201315. https:\/\/doi.org\/10.1016\/j.ceb.2010.11.005.","DOI":"10.1016\/j.ceb.2010.11.005"},{"key":"2025091715550578813_j_jpem-2025-0072_ref_004","doi-asserted-by":"crossref","unstructured":"Clark, AL, Urano, F. 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