{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T00:22:48Z","timestamp":1791246168761,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,8,6]],"date-time":"2014-08-06T00:00:00Z","timestamp":1407283200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:p><jats:italic><jats:styled-content style=\"fixed-case\">WFS1<\/jats:styled-content><\/jats:italic> mutations are responsible for Wolfram syndrome (<jats:styled-content style=\"fixed-case\">WS<\/jats:styled-content>) characterized by juvenile\u2010onset diabetes mellitus and optic atrophy, and for low\u2010frequency sensorineural hearing loss (<jats:styled-content style=\"fixed-case\">LFSNHL<\/jats:styled-content>). Our aim was to analyze the French cohort of 96 patients with <jats:italic><jats:styled-content style=\"fixed-case\">WFS1<\/jats:styled-content><\/jats:italic>\u2010related disorders in order (i) to update clinical and molecular data with 37 novel affected individuals, (ii) to describe uncommon phenotypes and, (iii) to precise the frequency of large\u2010scale rearrangements in <jats:italic><jats:styled-content style=\"fixed-case\">WFS1<\/jats:styled-content><\/jats:italic>. We performed quantitative polymerase chain reaction (<jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>) in 13 patients, carrying only one heterozygous variant, to identify large\u2010scale rearrangements in <jats:italic><jats:styled-content style=\"fixed-case\">WFS1<\/jats:styled-content><\/jats:italic>. Among the 37 novel patients, 15 carried 15 novel deleterious putative mutations, including one large deletion of 17,444 base pairs. The analysis of the cohort revealed unexpected phenotypes including (i) late\u2010onset symptoms in 13.8% of patients with a probable autosomal recessive transmission; (ii) two siblings with recessive optic atrophy without diabetes mellitus and, (iii) six patients from four families with dominantly\u2010inherited deafness and optic atrophy. We highlight the expanding spectrum of <jats:italic><jats:styled-content style=\"fixed-case\">WFS1<\/jats:styled-content><\/jats:italic>\u2010related disorders and we show that, even if large deletions are rare events, they have to be searched in patients with classical <jats:styled-content style=\"fixed-case\">WS<\/jats:styled-content> carrying only one <jats:italic><jats:styled-content style=\"fixed-case\">WFS1<\/jats:styled-content><\/jats:italic> mutation after sequencing.<\/jats:p>","DOI":"10.1111\/cge.12437","type":"journal-article","created":{"date-parts":[[2014,5,29]],"date-time":"2014-05-29T09:27:15Z","timestamp":1401355635000},"page":"430-439","source":"Crossref","is-referenced-by-count":42,"title":["Mutation update and uncommon phenotypes in a French cohort of 96 patients with <i><scp>WFS1<\/scp><\/i>\u2010related disorders"],"prefix":"10.1111","volume":"87","author":[{"given":"A.","family":"Chaussenot","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, National Centre for Mitochondrial Diseases Nice Teaching Hospital  Nice France"},{"name":"IRCAN UMR CNRS 7284\/INSERM U1081\/UNS, School of Medicine Nice Sophia\u2010Antipolis University  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Rouzier","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, National Centre for Mitochondrial Diseases Nice Teaching Hospital  Nice France"},{"name":"IRCAN UMR CNRS 7284\/INSERM U1081\/UNS, School of Medicine Nice Sophia\u2010Antipolis University  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Quere","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, National Centre for Mitochondrial Diseases Nice Teaching Hospital  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Plutino","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, National Centre for Mitochondrial Diseases Nice Teaching Hospital  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Ait\u2010El\u2010Mkadem","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, National Centre for Mitochondrial Diseases Nice Teaching Hospital  Nice France"},{"name":"IRCAN UMR CNRS 7284\/INSERM U1081\/UNS, School of Medicine Nice Sophia\u2010Antipolis University  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Bannwarth","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, National Centre for Mitochondrial Diseases Nice Teaching Hospital  Nice France"},{"name":"IRCAN UMR CNRS 7284\/INSERM U1081\/UNS, School of Medicine Nice Sophia\u2010Antipolis University  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Barth","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Genetics 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