{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T03:10:28Z","timestamp":1789787428962,"version":"4.0.1"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,9,10]],"date-time":"2004-09-10T00:00:00Z","timestamp":1094774400000},"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":[[2004,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in COL11A2 cause a spectrum of phenotypes affecting chondrogenic tissues. We analyzed this gene by conformation sensitive gel electrophoresis (CSGE) and sequencing in a family with non\u2010ocular Stickler syndrome, and found a heterozygous C\u2009\u2192\u2009T mutation in exon 57\u2009+\u200913 in affected members, resulting in Arg893Stop codon. Since heterozygous nonsense mutations in COL11A2 do not usually lead to any obvious phenotype, all exons and exon boundaries of COL11A2 in the sample of the propositus were sequenced. Because no disease\u2010associated alterations were found, we performed RT\u2010PCR analysis on the RNA. Analysis showed skipping of exon 57 in one allele, resulting in an inframe deletion of 54 bp or 18 amino acids, which would explain the phenotype observed in the family. Thus, the exon skipping resulted from a nonsense\u2010associated altered splicing (NAS). This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.interscience.wiley.com\/jpages\/0148-7299\/suppmat\/index.html\">http:\/\/www.interscience.wiley.com\/jpages\/0148\u20107299\/suppmat\/index.html<\/jats:ext-link>. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30111","type":"journal-article","created":{"date-parts":[[2004,9,14]],"date-time":"2004-09-14T09:49:18Z","timestamp":1095155358000},"page":"160-164","source":"Crossref","is-referenced-by-count":44,"title":["A stop codon mutation in COL11A2 induces exon skipping and leads to non\u2010ocular Stickler syndrome"],"prefix":"10.1002","volume":"130A","author":[{"given":"Mirka Marjanna","family":"Vuoristo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John Georgios","family":"Pappas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Jansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leena","family":"Ala\u2010Kokko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,9,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3080923"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/302585"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.9.1561"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg775"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-481280-2.50013-1"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.10.1893"},{"key":"e_1_2_6_8_1","first-page":"361","article-title":"Oto\u2010spondylo\u2010megaepiphyseal dysplasia (OSMED)","volume":"37","author":"Giedion A","year":"1982","journal-title":"Helv Pediatr Acta"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-47-557-244"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460224"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.4.1681"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.1178"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1014502"},{"key":"e_1_2_6_14_1","doi-asserted-by":"crossref","first-page":"9381","DOI":"10.1016\/S0021-9258(18)98361-4","article-title":"Isolation and characterization of the chains of type V\/type XI collagen present in bovine vitreous","volume":"268","author":"Mayne R","year":"1993","journal-title":"J Biol Chem"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/70516"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/302750"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200950"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981102)80:2<115::AID-AJMG5>3.0.CO;2-O"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI119757"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70466-4"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050459"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1383-5742(98)00010-6"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90493-X"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.39.22873"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(02)00635-4"}],"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.30111","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30111","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T21:51:12Z","timestamp":1696197072000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30111"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,9,10]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,10]]}},"alternative-id":["10.1002\/ajmg.a.30111"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30111","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,9,10]]}}}