{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T19:23:12Z","timestamp":1789068192451,"version":"build-2803163510"},"reference-count":16,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2016,6,6]],"date-time":"2016-06-06T00:00:00Z","timestamp":1465171200000},"content-version":"unspecified","delay-in-days":157,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genet. Res."],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Inherited optic neuropathies are a heterogeneous group of disorders characterized by mild to severe visual loss, colour vision deficit, central or paracentral visual field defects and optic disc pallor. Optic atrophies can be classified into isolated or non-syndromic and syndromic forms. While multiple modes of inheritance have been reported, autosomal dominant optic atrophy and mitochondrial inherited Leber's hereditary optic neuropathy are the most common forms. Optic atrophy type 1, caused by mutations in the<jats:italic>OPA1<\/jats:italic>gene is believed to be the most common hereditary optic neuropathy, and most patients inherit a mutation from an affected parent. In this study we used whole-exome sequencing to investigate the genetic aetiology in a patient affected with isolated optic atrophy. Since the proband was the only affected individual in his extended family, and was a product of consanguineous marriage, homozygosity mapping followed by whole-exome sequencing were pursued. Exome results identified a novel<jats:italic>de novo OPA1<\/jats:italic>mutation in the proband. We conclude, that though<jats:italic>de novo OPA1<\/jats:italic>mutations are uncommon, testing of common optic atrophy-associated genes such as mitochondrial mutations and<jats:italic>OPA1<\/jats:italic>gene sequencing should be performed first in single individuals presenting with optic neuropathy, even when dominant inheritance is not apparent.<\/jats:p>","DOI":"10.1017\/s0016672316000070","type":"journal-article","created":{"date-parts":[[2016,6,6]],"date-time":"2016-06-06T09:38:05Z","timestamp":1465205885000},"source":"Crossref","is-referenced-by-count":6,"title":["Exome sequencing identified a novel<i>de novo OPA1<\/i>mutation in a consanguineous family presenting with optic atrophy"],"prefix":"10.1155","volume":"98","author":[{"given":"LIOR","family":"COHEN","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SHAY","family":"TZUR","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"NITZA","family":"GOLDENBERG-COHEN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CONCETTA","family":"BORMANS","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"DORON M.","family":"BEHAR","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"EYAL","family":"REINSTEIN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2016,6,6]]},"reference":[{"key":"S0016672316000070_ref2","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a017277"},{"key":"S0016672316000070_ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20681"},{"key":"S0016672316000070_ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0981-z"},{"key":"S0016672316000070_ref15","doi-asserted-by":"publisher","DOI":"10.3109\/08820538.2013.825296"},{"key":"S0016672316000070_ref10","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.13.1359"},{"key":"S0016672316000070_ref1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1326-8-32"},{"key":"S0016672316000070_ref11","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000437308.22603.43"},{"key":"S0016672316000070_ref4","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9152"},{"key":"S0016672316000070_ref13","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22759"},{"key":"S0016672316000070_ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2009.12.038"},{"key":"S0016672316000070_ref12","doi-asserted-by":"crossref","first-page":"55","DOI":"10.3233\/JND-140003","article-title":"Behr's Syndrome is typically associated with disturbed mitochondrial translation and mutations in the C12orf65 gene","volume":"1","author":"Pyle","year":"2014","journal-title":"Journal of Neuromuscular Diseases"},{"key":"S0016672316000070_ref9","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"S0016672316000070_ref7","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21025"},{"key":"S0016672316000070_ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2006.12.038"},{"key":"S0016672316000070_ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.01.001"},{"key":"S0016672316000070_ref5","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"}],"container-title":["Genetics Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0016672316000070","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,12,31]],"date-time":"2020-12-31T22:46:11Z","timestamp":1609454771000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0016672316000070\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":16,"alternative-id":["S0016672316000070"],"URL":"https:\/\/doi.org\/10.1017\/s0016672316000070","relation":{},"ISSN":["0016-6723","1469-5073"],"issn-type":[{"value":"0016-6723","type":"print"},{"value":"1469-5073","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]},"article-number":"e10"}}