{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:15:18Z","timestamp":1790680518319,"version":"4.1.0"},"reference-count":19,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2020]]},"abstract":"<b><i>Background:<\/i><\/b> Wolfram syndrome is a rare neurodegenerative disorder, characterized by the presence of diabetes insipidus, diabetes mellitus, optic atrophy, and sensorineural deafness. The majority of cases are due to autosomal recessive biallelic variants in the <i>WFS1<\/i> gene; however, pathogenic autosomal dominant (AD) mutations have also been described. Glucagon-like peptide (GLP-1) agonists have been studied in both animal models and humans with classic Wolfram syndrome. <b><i>Case:<\/i><\/b> We present a 15-year-old female with a personal and family history of congenital strabismus, bilateral cataracts, low-frequency sensorineural hearing loss, and diabetes mellitus. Trio whole exome sequencing revealed a previously unknown maternally inherited heterozygous variant in exon 8 of the <i>WFS1<\/i> gene c.2605_2616del12 <i>p<\/i>.Ser869_His872del, leading to the diagnosis of AD WFS1-related disorder. Treatment with a GLP-1 agonist resulted in marked improvement in glycemic control and discontinuation of insulin therapy. This patient\u2019s response to a GLP-1 agonist provides suggestive indirect evidence for a role of WFS1 on \u03b2-cell endoplasmic reticulum stress and suggests that treatment with a GLP-1 agonist should be considered in patients with dominant forms of WS. <\/jats:p>","DOI":"10.1159\/000510852","type":"journal-article","created":{"date-parts":[[2020,10,19]],"date-time":"2020-10-19T21:00:31Z","timestamp":1603141231000},"page":"409-414","source":"Crossref","is-referenced-by-count":21,"title":["Efficacy of GLP-1 Agonist Therapy in Autosomal Dominant WFS1-Related Disorder: A Case Report"],"prefix":"10.1159","volume":"93","author":[{"given":"Kevin J.","family":"Scully","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph I.","family":"Wolfsdorf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2020,10,19]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-28314-z"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tips.2019.07.011"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1186\/s12967-019-1993-1"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-018-4679-y"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s12020-011-9505-y"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00248.2012"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.180"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.2337\/diacare.18.12.1566"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.2337\/dc07-0380"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12437"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105782"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.2337\/db16-1296"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.2337\/db13-0571"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.22.2501"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1111\/dom.13379"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.2337\/dci19-0012"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2013.04.008"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-52295-2"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-2240"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/510852","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/510852","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:00:28Z","timestamp":1745424028000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000510852"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":19,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2021,2,5]]},"published-print":{"date-parts":[[2021,2,23]]}},"URL":"https:\/\/doi.org\/10.1159\/000510852","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020]]}}}