{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T18:43:45Z","timestamp":1777488225525,"version":"3.51.4"},"reference-count":12,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,1,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0348_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>The presence of two pathogenic variants in the <jats:italic>WFS1<\/jats:italic> gene leads to the occurrence of a rare genetic disease in children \u2013 Wolfram syndrome (WFS), which includes insulin-dependent diabetes mellitus (DM), optic atrophy (OA), diabetes insipidus (DI), and deafness (D). However, the presence of a single mutation in the <jats:italic>WFS1<\/jats:italic> gene results in a number of other autosomal dominant inherited diseases, including Wolfram-like syndrome (WFS-like).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0348_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 10-year-old boy was referred to the Genetic Outpatient Clinic with suspected WFS based on the coexistence of D, type 1 DM, short stature, and abnormalities in ophthalmologic examination (astigmatism and OA due to the optical coherence tomography result). The genetic analysis did not confirm WFS syndrome in the boy but identified a single likely pathogenic <jats:italic>de novo<\/jats:italic> variant in the <jats:italic>WFS1<\/jats:italic> gene, which confirmed WFS-like syndrome.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0348_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Currently, the patient is under the care of an endocrinologist, diabetologist, ophthalmologist, audiologist, and also psychologist because of mood disorders.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0348","type":"journal-article","created":{"date-parts":[[2021,10,14]],"date-time":"2021-10-14T04:48:00Z","timestamp":1634186880000},"page":"121-124","source":"Crossref","is-referenced-by-count":2,"title":["Wolfram-like syndrome \u2013 another face of a rare disease in children"],"prefix":"10.1515","volume":"35","author":[{"given":"Mariusz","family":"Smetek","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Diabetology and Endocrinology , Medical University of Gdansk , Gdansk , Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karolina","family":"Gadzalska","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics , Medical University of Lodz , Lodz , Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulina","family":"Jakiel","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics , Medical University of Lodz , Lodz , Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Grzybowska","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics , Medical University of Lodz , Lodz , Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malgorzata","family":"Mysliwiec","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Diabetology and Endocrinology , Medical University of Gdansk , Gdansk , Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maciej","family":"Borowiec","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics , Medical University of Lodz , Lodz , Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8781-4469","authenticated-orcid":false,"given":"Agnieszka","family":"Zmys\u0142owska","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics , Medical University of Lodz , Lodz , Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,10,13]]},"reference":[{"key":"2023040100325820556_j_jpem-2021-0348_ref_001","doi-asserted-by":"crossref","unstructured":"Fonseca, SG, Ishigaki, S, Oslowski, CM, Lu, S, Lipson, KL, Ghosh, R, et al.. Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells. J Clin Invest 2010;120:744\u201355. https:\/\/doi.org\/10.1172\/jci39678.","DOI":"10.1172\/JCI39678"},{"key":"2023040100325820556_j_jpem-2021-0348_ref_002","unstructured":"Tranebj\u00e6rg, L, Barrett, T, Rendtorff, ND. WFS1 Wolfram syndrome spectrum disorder. In: Adam, MP, Ardinger, HH, Pagon, RA, Wallace, SE, Bean, LJH, Mirzaa, G, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 2009:1993\u20132021 pp."},{"key":"2023040100325820556_j_jpem-2021-0348_ref_003","doi-asserted-by":"crossref","unstructured":"Kumar, S. Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists. Pediatr Diabetes 2010;11:28\u201337. https:\/\/doi.org\/10.1111\/j.1399-5448.2009.00518.x.","DOI":"10.1111\/j.1399-5448.2009.00518.x"},{"key":"2023040100325820556_j_jpem-2021-0348_ref_004","doi-asserted-by":"crossref","unstructured":"De Franco, E, Flanagan, SE, Yagi, T, Abreu, D, Mahadevan, J, Johnson, MB, et al.. Dominant ER stress-inducing WFS1 mutations underlie a genetic syndrome of neonatal\/infancy-onset diabetes, congenital sensorineural deafness, and congenital cataracts. Diabetes 2017;66:2044\u201353. https:\/\/doi.org\/10.2337\/db16-1296.","DOI":"10.2337\/db16-1296"},{"key":"2023040100325820556_j_jpem-2021-0348_ref_005","doi-asserted-by":"crossref","unstructured":"Lusk, L, Black, E, Vengoechea, J. Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome. J Med Genet 2020;57:121\u20133. https:\/\/doi.org\/10.1136\/jmedgenet-2018-105782.","DOI":"10.1136\/jmedgenet-2018-105782"},{"key":"2023040100325820556_j_jpem-2021-0348_ref_006","doi-asserted-by":"crossref","unstructured":"Eiberg, H, Hansen, L, Kjer, B, Hansen, T, Pedersen, O, Bille, M, et al.. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. J Med Genet 2006;43:435\u201340. https:\/\/doi.org\/10.1136\/jmg.2005.034892.","DOI":"10.1136\/jmg.2005.034892"},{"key":"2023040100325820556_j_jpem-2021-0348_ref_007","doi-asserted-by":"crossref","unstructured":"Val\u00e9ro, R, Bannwarth, S, Roman, S, Paquis-Flucklinger, V, Vialettes, B. Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. 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