{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T19:35:04Z","timestamp":1786995304892,"version":"build-2736575974"},"reference-count":32,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2010,2,1]],"date-time":"2010-02-01T00:00:00Z","timestamp":1264982400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,2,1]],"date-time":"2010-02-01T00:00:00Z","timestamp":1264982400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001868","name":"National Science Council","doi-asserted-by":"publisher","award":["NSC 94-2314-B-075-076"],"award-info":[{"award-number":["NSC 94-2314-B-075-076"]}],"id":[{"id":"10.13039\/501100001868","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001868","name":"National Science Council","doi-asserted-by":"publisher","award":["93-2314-B-075-003"],"award-info":[{"award-number":["93-2314-B-075-003"]}],"id":[{"id":"10.13039\/501100001868","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011912","name":"Taipei Veterans General Hospital","doi-asserted-by":"publisher","award":["VGH 94-335"],"award-info":[{"award-number":["VGH 94-335"]}],"id":[{"id":"10.13039\/501100011912","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011912","name":"Taipei Veterans General Hospital","doi-asserted-by":"publisher","award":["VGH 97C1-077"],"award-info":[{"award-number":["VGH 97C1-077"]}],"id":[{"id":"10.13039\/501100011912","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["aaojournal.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Ophthalmology"],"published-print":{"date-parts":[[2010,2]]},"DOI":"10.1016\/j.ophtha.2009.07.019","type":"journal-article","created":{"date-parts":[[2009,12,7]],"date-time":"2009-12-07T09:55:23Z","timestamp":1260179723000},"page":"392-396.e1","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["Novel Mutations of the OPA1 Gene in Chinese Dominant Optic Atrophy"],"prefix":"10.1016","volume":"117","author":[{"given":"May-Yung","family":"Yen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"An-Guor","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yen-Ching","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming-Ji","family":"Fann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwang-Jen","family":"Hsiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ophtha.2009.07.019_bib1","doi-asserted-by":"crossref","first-page":"1680","DOI":"10.1001\/archopht.1979.01020020248013","article-title":"Dominant optic atrophy: the clinical profile","volume":"97","author":"Kline","year":"1979","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ophtha.2009.07.019_bib2","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1001\/archopht.1997.01100150097016","article-title":"Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)","volume":"115","author":"Brown","year":"1997","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ophtha.2009.07.019_bib3","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1006\/mgme.2001.3278","article-title":"OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease","volume":"75","author":"Delettre","year":"2002","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.ophtha.2009.07.019_bib4","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1001\/archopht.116.3.351","article-title":"Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy","volume":"116","author":"Votruba","year":"1998","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ophtha.2009.07.019_bib5","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1016\/0002-9394(79)90565-8","article-title":"A clinicopathologic study of autosomal dominant optic atrophy","volume":"88","author":"Johnston","year":"1979","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ophtha.2009.07.019_bib6","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1111\/j.1755-3768.1983.tb01424.x","article-title":"Histopathology of the eye, optic nerve and brain in a case of dominant optic atrophy","volume":"61","author":"Kjer","year":"1983","journal-title":"Acta Ophthalmol (Copenh)"},{"key":"10.1016\/j.ophtha.2009.07.019_bib7","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1136\/jmg.34.12.967","article-title":"Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity","volume":"34","author":"Seller","year":"1997","journal-title":"J Med Genet"},{"key":"10.1016\/j.ophtha.2009.07.019_bib8","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/79936","article-title":"Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy","volume":"26","author":"Delettre","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2009.07.019_bib9","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/79944","article-title":"OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28","volume":"26","author":"Alexander","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2009.07.019_bib10","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1001\/archopht.117.6.805","article-title":"Genetic heterogeneity of dominant optic atrophy, Kjer type: identification of a second locus on chromosome 18q12.2-12.3","volume":"117","author":"Kerrison","year":"1999","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ophtha.2009.07.019_bib11","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1007\/s00439-001-0633-y","article-title":"Mutation spectrum and splicing variants in the OPA1 gene","volume":"109","author":"Delettre","year":"2001","journal-title":"Hum Genet"},{"key":"10.1016\/j.ophtha.2009.07.019_bib12","doi-asserted-by":"crossref","first-page":"4151","DOI":"10.1242\/jcs.112.22.4151","article-title":"Fission yeast msp1 is a mitochondrial dynamin related protein","volume":"112","author":"Pelloquin","year":"1999","journal-title":"J Cell Sci"},{"key":"10.1016\/j.ophtha.2009.07.019_bib13","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1016\/j.exer.2005.11.021","article-title":"Focus on molecules: the OPA1 protein","volume":"83","author":"Davies","year":"2006","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.ophtha.2009.07.019_bib14","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1016\/j.bbamcr.2006.04.003","article-title":"Mitochondrial dynamics and disease, OPA1","volume":"1763","author":"Olichon","year":"2006","journal-title":"Biochem Biophys Acta"},{"key":"10.1016\/j.ophtha.2009.07.019_bib15","doi-asserted-by":"crossref","first-page":"1667","DOI":"10.1167\/iovs.03-1093","article-title":"Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer","volume":"45","author":"Aijaz","year":"2004","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ophtha.2009.07.019_bib16","doi-asserted-by":"crossref","first-page":"4217","DOI":"10.1167\/iovs.03-1261","article-title":"OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina","volume":"45","author":"Pesch","year":"2004","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ophtha.2009.07.019_bib17","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1016\/j.exer.2006.06.004","article-title":"OPA1 expression in the human retina and optic nerve","volume":"83","author":"Wang","year":"2006","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.ophtha.2009.07.019_bib18","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1002\/humu.20161","article-title":"eOPA1: an online database for OPA1 mutations","volume":"25","author":"Ferre","year":"2005","journal-title":"Hum Mut"},{"key":"10.1016\/j.ophtha.2009.07.019_bib20","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1093\/hmg\/10.13.1369","article-title":"Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy","volume":"10","author":"Toomes","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ophtha.2009.07.019_bib21","series-title":"Current Protocols in Human Genetics","first-page":"14.8","article-title":"Short tandem repeat analysis for human identity testing","author":"Butler","year":"2004"},{"key":"10.1016\/j.ophtha.2009.07.019_bib22","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1111\/j.1600-0420.2005.00448.x","article-title":"Dominant optic atrophy: correlation between clinical and molecular genetic studies","volume":"83","author":"Puomila","year":"2005","journal-title":"Acta Ophthalmol Scand"},{"key":"10.1016\/j.ophtha.2009.07.019_bib23","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/0378-1119(94)90567-3","article-title":"Construction of a novel database containing aberrant splicing mutations of mammalian genes","volume":"141","author":"Nakai","year":"1994","journal-title":"Gene"},{"key":"10.1016\/j.ophtha.2009.07.019_bib24","first-page":"2451","article-title":"Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy","volume":"14","author":"Li","year":"2008","journal-title":"Mol Vis [serial online]"},{"key":"10.1016\/j.ophtha.2009.07.019_bib25","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1002\/humu.20607","article-title":"Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons","volume":"29","author":"Schimpf","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ophtha.2009.07.019_bib26","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1016\/j.ophtha.2005.10.054","article-title":"Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy","volume":"113","author":"Nakamura","year":"2006","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ophtha.2009.07.019_bib27","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1007\/s004390100600","article-title":"A frame shift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect","volume":"109","author":"Thiselton","year":"2001","journal-title":"Hum Genet"},{"key":"10.1016\/j.ophtha.2009.07.019_bib28","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1093\/hmg\/10.13.1359","article-title":"OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance","volume":"10","author":"Pesch","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ophtha.2009.07.019_bib29","first-page":"1715","article-title":"A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy","volume":"43","author":"Thiselton","year":"2002","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ophtha.2009.07.019_bib30","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1016\/j.ajo.2006.12.038","article-title":"Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations","volume":"143","author":"Cohn","year":"2007","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ophtha.2009.07.019_bib31","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1038\/nrg1327","article-title":"Genomic variants in exons and introns: identifying the splicing spoilers","volume":"5","author":"Pagani","year":"2004","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.ophtha.2009.07.019_bib32","first-page":"102","article-title":"Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1 [letter]","volume":"67","author":"Amati-Bonneau","year":"2004","journal-title":"Clin Genet"},{"key":"10.1016\/j.ophtha.2009.07.019_bib33","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1002\/humu.9152","article-title":"Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy","volume":"21","author":"Baris","year":"2003","journal-title":"Hum Mutat"}],"container-title":["Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0161642009007878?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0161642009007878?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T13:58:59Z","timestamp":1758981539000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0161642009007878"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,2]]},"references-count":32,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,2]]}},"alternative-id":["S0161642009007878"],"URL":"https:\/\/doi.org\/10.1016\/j.ophtha.2009.07.019","relation":{},"ISSN":["0161-6420"],"issn-type":[{"value":"0161-6420","type":"print"}],"subject":[],"published":{"date-parts":[[2010,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel Mutations of the OPA1 Gene in Chinese Dominant Optic Atrophy","name":"articletitle","label":"Article Title"},{"value":"Ophthalmology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ophtha.2009.07.019","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}