{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:25:21Z","timestamp":1787502321274,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,3,26]],"date-time":"2003-03-26T00:00:00Z","timestamp":1048636800000},"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":[[2003,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The penetrance in Leber's hereditary optic neuropathy (LHON) pedigrees is determined primarily by a mutation in the mitochondrial genome (mtDNA), but secondary factors are also necessary for manifestation of the disorder. It has been proposed that mtDNA polymorphisms affect penetrance in LHON pedigrees. In particular, it has been postulated that one or more polymorphisms associated with European haplogroup J mtDNAs substantially increase the penetrance of the primary LHON mutation at nucleotide 14484. We report here a haplogroup H matrilineal pedigree (VIC14) in which the single affected member carries the 14484 LHON mutation, but who manifested a milder and atypical optic nerve disorder. In addition, during a population screen, we identified an individual who carried the 14484 mutation but who had normal vision. Finally, the 14484 mutation is under\u2010represented among haplogroup H mtDNAs that carry a LHON mutation. These results, in conjunction with other studies that are reviewed, indicate that 14484 LHON mutations have a low penetrance when they arise in a haplogroup H mtDNA background. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20135","type":"journal-article","created":{"date-parts":[[2003,5,12]],"date-time":"2003-05-12T07:31:56Z","timestamp":1052724716000},"page":"147-151","source":"Crossref","is-referenced-by-count":43,"title":["Low penetrance of the 14484 LHON mutation when it arises in a non\u2010haplogroup J mtDNA background"],"prefix":"10.1002","volume":"119A","author":[{"given":"Neil","family":"Howell","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinna","family":"Herrnstadt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cliff","family":"Shults","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Mackey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,3,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/13779"},{"key":"e_1_2_6_3_1","first-page":"138","article-title":"Spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathy","volume":"2","author":"Brown MD","year":"1994","journal-title":"Clin Neurosci"},{"key":"e_1_2_6_4_1","first-page":"381","article-title":"Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 and 14484 mutations on an mtDNA lineage","volume":"60","author":"Brown MD","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/339933"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0042-6989(96)00167-8"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0042-6989(97)00444-6"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/302049"},{"key":"e_1_2_6_9_1","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1093\/genetics\/133.1.133","article-title":"Leber's hereditary optic neuropathy: The etiological role of a mutation in the mitochondrial cytochrome b gene","volume":"133","author":"Howell N","year":"1993","journal-title":"Genetics"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(00)00603-6"},{"key":"e_1_2_6_11_1","first-page":"77","article-title":"Leber's hereditary optic neuropathy: Historical and contemporary considerations","volume":"5","author":"Kleiner L","year":"1996","journal-title":"Optom Clin"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01694557"},{"key":"e_1_2_6_13_1","first-page":"481","article-title":"Primary pathogenic mitochondrial DNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy","volume":"59","author":"Mackey DA","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/118.2.319"},{"key":"e_1_2_6_15_1","first-page":"1107","article-title":"Haplotype and phylogenetic analyses suggest that European\u2010specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484","volume":"60","author":"Torroni A","year":"1997","journal-title":"Am J Hum Genet"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20135","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20135","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:43:02Z","timestamp":1697604182000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20135"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,3,26]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,6]]}},"alternative-id":["10.1002\/ajmg.a.20135"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20135","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,3,26]]}}}