{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T13:46:56Z","timestamp":1776088016143,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,5,17]],"date-time":"2020-05-17T00:00:00Z","timestamp":1589673600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,5,17]],"date-time":"2020-05-17T00:00:00Z","timestamp":1589673600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100007113","name":"Arak University of Medical Sciences","doi-asserted-by":"publisher","award":["3443"],"award-info":[{"award-number":["3443"]}],"id":[{"id":"10.13039\/501100007113","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Wolfram's syndrome (WFS) is a hereditary (autosomal recessive) neurodegenerative disorder. The clinical features are related to diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) with other variable clinical manifestations. Pathogenic variants in the\n                      <jats:italic>WFS1<\/jats:italic>\n                      gene, encoding wolframin, are known to be the main cause of Wolfram's syndrome. In this study, we present the clinical and genetic characteristics of two WFS patients from an Iranian family.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The mutation screening was performed by polymerase chain reaction (PCR) followed by direct Sanger sequencing of all exons from two affected WFS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The complete Sanger sequencing of the\n                      <jats:italic>WFS1<\/jats:italic>\n                      gene detected a homozygous missense variant, c.2207G&gt;A (p.Gly736Asp), in the eighth exon of the\n                      <jats:italic>WFS1<\/jats:italic>\n                      gene. Both cases developed all the major symptoms of the disease, interestingly, except hearing loss.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Because of the rarity and clinical heterogeneity of WFS, the molecular genetic assay is essential to confirm the diagnosis and management of the WFS patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.23358","type":"journal-article","created":{"date-parts":[[2020,5,18]],"date-time":"2020-05-18T01:56:02Z","timestamp":1589766962000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A homozygous missense mutation of\n                    <i>WFS1<\/i>\n                    gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity)"],"prefix":"10.1002","volume":"34","author":[{"given":"Shahram","family":"Torkamandi","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Immunology Faculty of Medicine Urmia University of Medical Sciences Urmia Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Somaye","family":"Rezaei","sequence":"additional","affiliation":[{"name":"Department of Neurology Imam Khomeini Hospital Urmia University of Medical Sciences Urmia Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1709-8975","authenticated-orcid":false,"given":"Reza","family":"Mirfakhraie","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2066-183X","authenticated-orcid":false,"given":"Sahar","family":"Bayat","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medicine Tabriz University of Medical Sciences Tabriz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samira","family":"Piltan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milad","family":"Gholami","sequence":"additional","affiliation":[{"name":"Molecular and Medicine Research Center Arak University of Medical Sciences Arak Iran"},{"name":"Department of Biochemistry and Genetics School of Medicine Arak University of Medical Sciences Arak Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,5,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12967-019-1993-1"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-030015"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)92473-6"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.4172\/2157-7412.1000245"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11892-015-0702-6"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.10.838"},{"issue":"4","key":"e_1_2_7_8_1","first-page":"197","article-title":"Association of CpG\u2010SNP and 3'UTR\u2010SNP of WFS1 with the risk of type 2 diabetes mellitus in an Iranian population","volume":"6","author":"Torkamandi 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