{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:52:56Z","timestamp":1760151176835,"version":"build-2065373602"},"reference-count":23,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,2,21]],"date-time":"2022-02-21T00:00:00Z","timestamp":1645401600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>Wolfram syndrome 1, a rare autosomal recessive neurodegenerative disease, is caused by mutations in the WFS1 gene. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), and other clinical manifestations such as urological and neurological disorders. Here we described the case of a patient with an atypical late-onset Wolfram syndrome 1 without DI. Our WS1 patient was a c.1620_1622delGTG (p.Trp540del)\/c.124 C &gt; T (p.Arg42*) heterozygous compound. The p.Arg42* nonsense mutation was also found in heterozygosity in his sister and niece, both suffering from psychiatric disorders. The p.Arg42* nonsense mutation has never been found in WS1 and its pathogenicity is unclear so far. Our study underlined the need to study a greater number of WS1 cases in order to better understand the clinical significance of many WFS1 variants.<\/jats:p>","DOI":"10.3390\/ijerph19042473","type":"journal-article","created":{"date-parts":[[2022,2,21]],"date-time":"2022-02-21T20:47:45Z","timestamp":1645476465000},"page":"2473","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus"],"prefix":"10.3390","volume":"19","author":[{"given":"Luciana","family":"Rigoli","sequence":"first","affiliation":[{"name":"Department of Human Pathology of Adulthood and Childhood G. Barresi, University of Messina, 98125 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valerio","family":"Caruso","sequence":"additional","affiliation":[{"name":"Psychiatry 2 Unit, Clinical and Experimental Medicine Department, University of Pisa, 56126 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Concetta","family":"Aloi","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), IRCCS Institute Giannina Gaslini, 16147 Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Salina","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), IRCCS Institute Giannina Gaslini, 16147 Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7183-5238","authenticated-orcid":false,"given":"Mohamad","family":"Maghnie","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), IRCCS Institute Giannina Gaslini, 16147 Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"d'Annunzio","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), IRCCS Institute Giannina Gaslini, 16147 Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga","family":"Lamacchia","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology and Diabetology, Department of Medical and Surgical Sciences, University of Foggia, 71100 Foggia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppina","family":"Salzano","sequence":"additional","affiliation":[{"name":"Department of Human Pathology of Adulthood and Childhood G. Barresi, University of Messina, 98125 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fortunato","family":"Lombardo","sequence":"additional","affiliation":[{"name":"Department of Human Pathology of Adulthood and Childhood G. Barresi, University of Messina, 98125 Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Picca","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology and Diabetology, Department of Medical and Surgical Sciences, University of Foggia, 71100 Foggia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,21]]},"reference":[{"key":"ref_1","first-page":"715","article-title":"Diabetes mellitus and simple optic atrophy among siblings: Report of four cases","volume":"13","author":"Wolfram","year":"1938","journal-title":"Mayo Clin. 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