{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T17:44:53Z","timestamp":1790444693283,"version":"4.1.0"},"reference-count":16,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T00:00:00Z","timestamp":1711411200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>To date, approximately 600 unique pathogenic variants have been reported in <jats:italic>COL3A1<\/jats:italic> associated with vascular Ehlers\u2013Danlos syndrome (vEDS). The objective of this study was to describe a patient with a novel variant in <jats:italic>COL3A1<\/jats:italic> associated with vEDS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case report<\/jats:title><jats:p>We describe the clinical history and thorough phenotyping of a patient with brain aneurysms and identified a novel pathogenic variant in <jats:italic>COL3A1<\/jats:italic>. This male patient reported transient focal neurologic symptoms. Physical examination showed abnormal atrophic scarring, horizontal stretch marks under the arms, and an acrogeric appearance of the skin of the hands and feet. Brain imaging revealed extensive dilation of both internal carotids and the vertebrobasilar system. Molecular analysis identified a variant in <jats:italic>COL3A1<\/jats:italic> (NM_000090.4):c.3058G&amp;gt;T p.(Gly1020Cys), which was classified as likely pathogenic. Currently, the patient has never had an event concerning dissection\/rupture of tissues that could be affected in this condition.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This report demonstrates that exhaustive evaluation with clinical and genetic approaches should be considered in patients with vascular abnormalities. vEDS has a variable clinical presentation and often goes unrecognized, even though it is related to life-threatening complications and a shortened life expectancy. Diagnosis confirmed by genetic testing is crucial to determining appropriate surveillance, prevention, treatment, and genetic counseling.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fmed.2024.1304168","type":"journal-article","created":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T04:55:07Z","timestamp":1711428907000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Case report: A novel COL3A1 variant in a Colombian patient with isolated cerebrovascular involvement in vascular Ehlers\u2013Danlos syndrome"],"prefix":"10.3389","volume":"11","author":[{"given":"Valeria","family":"Valencia-Cifuentes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stiven Ernesto","family":"Sinisterra-D\u00edaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Quintana-Pe\u00f1a","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edgar","family":"Folleco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 A.","family":"Nastasi-Catanese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry","family":"Pachajoa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan P.","family":"Fern\u00e1ndez-Cubillos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,3,26]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1002\/ajmg.c.31552","article-title":"The 2017 international classification of the Ehlers-Danlos syndromes","volume":"175","author":"Malfait","year":"2017","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"105775","DOI":"10.1016\/j.clineuro.2020.105775","article-title":"Vascular Ehlers-Danlos syndrome: literature review and surgical management of intracranial vascular complications","volume":"193","author":"Olubajo","year":"2020","journal-title":"Clin Neurol Neurosurg"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"626","DOI":"10.1161\/01.STR.21.4.626","article-title":"Cerebrovascular disease in Ehlers-Danlos syndrome type 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