{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T06:09:41Z","timestamp":1784182181110,"version":"3.55.0"},"reference-count":33,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T00:00:00Z","timestamp":1784073600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T00:00:00Z","timestamp":1784073600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UL1TR002538"],"award-info":[{"award-number":["UL1TR002538"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["EY014800"],"award-info":[{"award-number":["EY014800"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 EY017011"],"award-info":[{"award-number":["R01 EY017011"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 EY15130"],"award-info":[{"award-number":["R01 EY15130"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 034975"],"award-info":[{"award-number":["R01 034975"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017908","name":"ALSAM Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017908","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001209","name":"Knights Templar Eye Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001209","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010310","name":"E. Matilda Ziegler Foundation for the Blind","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010310","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["K08 EY034549"],"award-info":[{"award-number":["K08 EY034549"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Stickler syndrome is most commonly caused by variants in\n                    <jats:italic>COL2A1<\/jats:italic>\n                    and\n                    <jats:italic>COL11A1<\/jats:italic>\n                    genes. The purpose of this study was to describe genetic variants and phenotypes in\n                    <jats:italic>COL2A1<\/jats:italic>\n                    and\n                    <jats:italic>COL11A1<\/jats:italic>\n                    Stickler syndrome. We performed a retrospective genotype\u2013phenotype evaluation of\n                    <jats:italic>COL2A1<\/jats:italic>\n                    and\n                    <jats:italic>COL11A1<\/jats:italic>\n                    Stickler syndrome subjects. Thirty\u2010two subjects with\n                    <jats:italic>COL2A1<\/jats:italic>\n                    and 13 subjects with\n                    <jats:italic>COL11A1<\/jats:italic>\n                    Stickler syndrome were last seen in clinic at a mean age of 17.2\u2009\u00b1\u200913.1 and 12.6\u2009\u00b1\u20093.8\u2009years, respectively (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.08). We found that 50% of\n                    <jats:italic>COL2A1<\/jats:italic>\n                    subjects had lattice degeneration, whereas 8% of the\n                    <jats:italic>COL11A1<\/jats:italic>\n                    subjects had lattice degeneration (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.015). The most common type of variant for\n                    <jats:italic>COL2A1<\/jats:italic>\n                    Stickler syndrome was a premature termination codon (12 out of 18 families, 67%); and the most common types of variants for\n                    <jats:italic>COL11A1<\/jats:italic>\n                    Stickler syndrome were glycine missense variants (4 out of 10 families, 40%) and splice site variants (4 out of 10 families, 40%). There was a higher rate of lattice degeneration in\n                    <jats:italic>COL2A1<\/jats:italic>\n                    patients compared with\n                    <jats:italic>COL11A1<\/jats:italic>\n                    patients, a finding that could be influenced by a trend towards older age at last follow\u2010up in the\n                    <jats:italic>COL2A1<\/jats:italic>\n                    group.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70244","type":"journal-article","created":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T05:38:52Z","timestamp":1784180332000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Ocular and Systemic Findings in\n                    <i>COL2A1<\/i>\n                    and\n                    <i>COL11A1<\/i>\n                    Stickler Syndrome"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0237-7181","authenticated-orcid":false,"given":"Aileen G.","family":"MacLachlan","sequence":"first","affiliation":[{"name":"John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences University of Utah  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica A.","family":"Kraker","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise J.","family":"Morgan","sequence":"additional","affiliation":[{"name":"John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences University of Utah  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3154-4249","authenticated-orcid":false,"given":"Lisa A.","family":"Schimmenti","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Otorhinolaryngology, Head and Neck Surgery Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Biochemistry and Molecular Biology Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Pediatrics and Adolescent Medicine Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Elizabeth","family":"Hartnett","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Byers Eye Institute at Stanford University  Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0161-6977","authenticated-orcid":false,"given":"Eileen S.","family":"Hwang","sequence":"additional","affiliation":[{"name":"John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences University of Utah  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,15]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/302585"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1350\u20109462(99)00016\u20106"},{"key":"e_1_2_13_4_1","first-page":"143","article-title":"The Influence of Refractive Error and Lattice Degeneration on the Incidence of Retinal Detachment","volume":"87","author":"Burton T. C.","year":"1989","journal-title":"Transactions of the American Ophthalmological Society"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.oret.2025.08.008"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.153965"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12101578"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2025.09.011"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010022\u201008476\u20107"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.oret.2024.12.014"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.18\u201025957"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0161\u20106420(84)34266\u2010x"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkaa942"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.4103\/ijo.IJO_1833_21"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.120.6.701\/"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1153"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.4103\/joco.joco_94_22"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jormas.2025.102261"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0002\u20109394(02)01646\u2010x"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.018382"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPB.0000000000001180"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20347"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21257"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24359"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/28.1.352"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13061089"},{"key":"e_1_2_13_28_1","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/S0025-6196(25)14186-4","article-title":"Hereditary Progressive Arthro\u2010Ophthalmopathy","volume":"40","author":"Stickler G. B.","year":"1965","journal-title":"Mayo Clinic Proceedings"},{"key":"e_1_2_13_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2020.09.001"},{"issue":"1","key":"e_1_2_13_30_1","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/S0161-6420(02)01446-X","article-title":"Posterior Chorioretinal Atrophy and Vitreous Phenotype in a Family With Stickler Syndrome From a Mutation in the COL2A1 Gene","volume":"110","author":"Vu C. D.","year":"2003","journal-title":"Ophthalmology"},{"key":"e_1_2_13_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2023.02.004"},{"key":"e_1_2_13_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010019\u201012438\u20105"},{"key":"e_1_2_13_33_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600\u20100420.1998.760117.x"},{"key":"e_1_2_13_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13680"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70244","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70244","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70244","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T05:38:54Z","timestamp":1784180334000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70244"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,15]]},"references-count":33,"alternative-id":["10.1002\/ajmg.a.70244"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70244","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,15]]},"assertion":[{"value":"2025-12-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-29","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"ajmg.a.70244"}}