{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T23:27:22Z","timestamp":1783034842409,"version":"3.54.6"},"reference-count":31,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2007,6,13]],"date-time":"2007-06-13T00:00:00Z","timestamp":1181692800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the <jats:italic>WFS1<\/jats:italic> gene have been reported in Wolfram syndrome (WS), an autosomal recessive disorder defined by early onset of diabetes mellitus (DM) and progressive optic atrophy. Because of the low prevalence of this syndrome and the recent identification of the <jats:italic>WFS1<\/jats:italic> gene, few data are available concerning the relationships between clinical and molecular aspects of the disease. Here, we describe 12 patients from 11 families with WS. We report on eight novel (A214fsX285, L293fsX303, P346L, I427S, V503fsX517, R558C, S605fsX711, P838L) and seven previously reported mutations. We also looked for genotype\u2013phenotype correlation both in patients included in this study and 19 additional WS patients that were previously reported. Subsequently, we performed a systematic review and meta\u2010analysis of five published clinical and molecular studies of <jats:italic>WFS1<\/jats:italic> for genotype\u2013phenotype correlation, combined with our current French patient group for a total of 96 patients. The presence of two inactivating mutations was shown to predispose to an earlier age of onset of both DM and optic atrophy. Moreover, the clinical expression of WS was more complete and occurred earlier in patients harboring no missense mutation. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31809","type":"journal-article","created":{"date-parts":[[2007,6,14]],"date-time":"2007-06-14T04:26:14Z","timestamp":1181795174000},"page":"1605-1612","source":"Crossref","is-referenced-by-count":68,"title":["Identification of novel mutations in <i>WFS1<\/i> and genotype\u2013phenotype correlation in Wolfram 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