{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T00:22:22Z","timestamp":1791246142521,"version":"4.1.0"},"reference-count":34,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2006,5]]},"abstract":"<jats:p>Autosomal dominant optic atrophy (ADOA) is genetically heterogeneous, with <jats:italic>OPA1<\/jats:italic> on 3q28 being the most prevalently mutated gene. Additional loci are <jats:italic>OPA3<\/jats:italic>, <jats:italic>OPA4<\/jats:italic>, and <jats:italic>OPA5<\/jats:italic>, located at 19q13.2, 18q12.2, and 22q12.1\u2013q13.1, respectively. Mutations in the <jats:italic>WFS1<\/jats:italic> gene, at 4p16.3, are associated with either optic atrophy (OA) as part of the autosomal recessive Wolfram syndrome or with autosomal dominant progressive low frequency sensorineural hearing loss (LFSNHL) without any ophthalmological abnormalities. Linkage and sequence mutation analyses of the ADOA candidate genes <jats:italic>OPA1, OPA3<\/jats:italic>, <jats:italic>OPA4<\/jats:italic>, and <jats:italic>OPA5<\/jats:italic>, including the genes <jats:italic>WFS1<\/jats:italic>, <jats:italic>GJB2<\/jats:italic>, and <jats:italic>GJB6<\/jats:italic> associated with recessive inherited OA or dominant LFSNHL, were performed. We identified one novel <jats:italic>WFS1<\/jats:italic> missense mutation E864K, c.2590G\u2192A in exon 8 that co-segregates with ADOA combined with hearing impairment and impaired glucose regulation. This is the first example of autosomal dominant optic atrophy and hearing loss associated with a <jats:italic>WFS1<\/jats:italic> mutation, supporting the notion that mutations in <jats:italic>WFS1<\/jats:italic> as well as in <jats:italic>OPA1<\/jats:italic> may lead to ADOA combined with impaired hearing.<\/jats:p>","DOI":"10.1136\/jmg.2005.034892","type":"journal-article","created":{"date-parts":[[2006,4,28]],"date-time":"2006-04-28T15:53:41Z","timestamp":1146239621000},"page":"435-440","source":"Crossref","is-referenced-by-count":129,"title":["Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the <i>WFS1<\/i> gene"],"prefix":"10.1136","volume":"43","author":[{"given":"H","family":"Eiberg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Hansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Kjer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Hansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O","family":"Pedersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Bille","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Rosenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Tranebj\u00e6rg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2006,4,28]]},"reference":[{"key":"2025101714361082000_43.5.435.1","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/S0161-6420(80)35247-0","volume":"87","year":"1980","journal-title":"Ophthalmology"},{"key":"2025101714361082000_43.5.435.2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1024441302074"},{"key":"2025101714361082000_43.5.435.3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.6.977"},{"key":"2025101714361082000_43.5.435.4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.016576"},{"key":"2025101714361082000_43.5.435.5","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1001\/archopht.117.6.805","volume":"117","year":"1999","journal-title":"Arch Ophthalmol"},{"key":"2025101714361082000_43.5.435.6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.025502"},{"key":"2025101714361082000_43.5.435.7","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.13.2021"},{"key":"2025101714361082000_43.5.435.8","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100600"},{"key":"2025101714361082000_43.5.435.9","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(03)00665-2"},{"key":"2025101714361082000_43.5.435.10","doi-asserted-by":"publisher","DOI":"10.3109\/13816819409098868"},{"key":"2025101714361082000_43.5.435.11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330108"},{"key":"2025101714361082000_43.5.435.12","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1974.03900060105003"},{"key":"2025101714361082000_43.5.435.13","doi-asserted-by":"publisher","DOI":"10.3109\/13816818509007861"},{"key":"2025101714361082000_43.5.435.14","doi-asserted-by":"publisher","DOI":"10.3109\/13816818509007860"},{"key":"2025101714361082000_43.5.435.15","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1016\/S0161-6420(84)34214-2","volume":"91","year":"1984","journal-title":"Ophthalmology"},{"key":"2025101714361082000_43.5.435.16","doi-asserted-by":"publisher","DOI":"10.1076\/opge.23.1.29.2208"},{"key":"2025101714361082000_43.5.435.17","doi-asserted-by":"publisher","DOI":"10.1086\/302609"},{"key":"2025101714361082000_43.5.435.18","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/S0027-5107(02)00265-8","volume":"525","year":"2003","journal-title":"Mutat Res"},{"key":"2025101714361082000_43.5.435.19","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1136\/jmg.36.7.532","volume":"36","year":"1999","journal-title":"J Med Genet"},{"key":"2025101714361082000_43.5.435.20","doi-asserted-by":"crossref","unstructured":"Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G, Kremer H, Schatteman I, Koln KA, Toth T, Kupka S, Blin N, Nurnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CW, Smith RJ, Van Camp G. Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet. 2000;110 :389\u201394.","DOI":"10.1007\/s00439-002-0719-1"},{"key":"2025101714361082000_43.5.435.21","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.22.2509"},{"key":"2025101714361082000_43.5.435.22","unstructured":"HEAR: European Working Group on Genetics of Hearing Impairment. Infoletter 2. November 1996. http:\/\/web.unife.it\/progetti\/gendeaf\/hear\/infoletters\/Info_02.pdf."},{"key":"2025101714361082000_43.5.435.23","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1111\/j.1399-0004.1989.tb02951.x","volume":"35","year":"1989","journal-title":"Clin Genet"},{"key":"2025101714361082000_43.5.435.24","doi-asserted-by":"publisher","DOI":"10.1159\/000154222"},{"key":"2025101714361082000_43.5.435.25","doi-asserted-by":"crossref","unstructured":"Rozen S, Skaletsky HJ. Primer3 on the WWW for general users and for biologist programmers. In: Krawetz S, Misener S (eds) Bioinformatics methods and protocols, methods in molecular biology Totowa, NJ, Humana Press 2000:365\u201386.","DOI":"10.1385\/1-59259-192-2:365"},{"key":"2025101714361082000_43.5.435.26","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa012052"},{"key":"2025101714361082000_43.5.435.27","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.12.2173"},{"key":"2025101714361082000_43.5.435.28","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/22.22.4673"},{"key":"2025101714361082000_43.5.435.29","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229202. Article published online before March 2002"},{"key":"2025101714361082000_43.5.435.30","unstructured":"Sivakumaran TA, Lesperance MM. Kresge database. Available on the website of the Kresge Hearing Research Institute. www.khri.med.umich.edu\/research\/lesperance_lab\/wfs1t2.shtml."},{"key":"2025101714361082000_43.5.435.31","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-005-0665-1"},{"key":"2025101714361082000_43.5.435.32","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.22.2501"},{"key":"2025101714361082000_43.5.435.33","doi-asserted-by":"publisher","DOI":"10.1007\/s100380200057"},{"key":"2025101714361082000_43.5.435.34","unstructured":"UCSC Genome Browser, version July 2004. http:\/\/genome.ucsc.edu\/cgi-bin\/hgGateway."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2005.034892","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:36:22Z","timestamp":1760736982000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2005.034892"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,4,28]]},"references-count":34,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2006,4,28]]},"published-print":{"date-parts":[[2006,5]]}},"alternative-id":["10.1136\/jmg.2005.034892"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2005.034892","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,4,28]]}}}