{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T12:17:02Z","timestamp":1760098622548,"version":"3.37.3"},"reference-count":23,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2018,7,28]],"date-time":"2018-07-28T00:00:00Z","timestamp":1532736000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:p>Wagner syndrome and erosive vitreoretinopathy together constitute the phenotypic continuum of an autosomal dominant vitreoretinopathy, with clinical findings typically isolated to the eye. The disease is caused by pathogenic variants in the <jats:italic>VCAN<\/jats:italic> gene and all such variants reported to date are those that plausibly result in haploinsufficiency of exon 8 containing <jats:italic>vcan<\/jats:italic> transcripts. Here, we report the molecular findings and long\u2010term follow\u2010up of a 16\u2010year\u2010old female with a history of retinal detachments and pigmentary retinal changes. Next\u2010generation sequencing and microarray analysis of 141 genes established a diagnosis of Wagner syndrome in this individual, by detection of an 11.7 kilobase (kb) deletion encompassing exon 8 of <jats:italic>VCAN<\/jats:italic>. In light of the emerging functions and roles of versican protein in human disease, we discuss how variants within exon 8 of the <jats:italic>VCAN<\/jats:italic> gene can be compared to those in exon 2 of the <jats:italic>COL2A1<\/jats:italic> gene that cause atypical Stickler syndrome and propose that variants in other regions of the gene can be expected to present with a more systemic disease. The distinctive facial features and atypical gastrointestinal symptoms observed in this long\u2010term follow\u2010up study support the possibility that individuals with <jats:italic>VCAN<\/jats:italic>\u2010related vitreoretinopathy may have extra\u2010ocular clinical features.<\/jats:p>","DOI":"10.1002\/ajmg.a.38855","type":"journal-article","created":{"date-parts":[[2018,7,29]],"date-time":"2018-07-29T07:25:17Z","timestamp":1532849117000},"page":"1778-1783","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Is exon 8 the most critical or the only dispensable exon of the <i>VCAN<\/i> gene? Insights into <i>VCAN<\/i> variants and clinical spectrum of Wagner syndrome"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6373-9916","authenticated-orcid":false,"given":"Arunkanth","family":"Ankala","sequence":"first","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine Atlanta Georgia"},{"name":"EGL Genetic Diagnostics, LLC Atlanta Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nieraj","family":"Jain","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Emory University Atlanta Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Baker","family":"Hubbard","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Emory University Atlanta Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John J.","family":"Alexander","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine Atlanta Georgia"},{"name":"EGL Genetic Diagnostics, LLC Atlanta Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7100-5691","authenticated-orcid":false,"given":"Suma P.","family":"Shankar","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine Atlanta Georgia"},{"name":"Department of Ophthalmology Emory University Atlanta Georgia"},{"name":"Division of Genomic Medicine, Department of Pediatrics UC Davis School of Medicine Sacramento California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,7,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1994.2180"},{"key":"e_1_2_6_3_1","first-page":"1669","article-title":"A new VCAN\/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features","volume":"17","author":"Brezin A. 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