{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T23:26:16Z","timestamp":1793229976976,"version":"4.5.0"},"reference-count":39,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,1,27]],"date-time":"2025-01-27T00:00:00Z","timestamp":1737936000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Potishman Foundation","award":["02"],"award-info":[{"award-number":["02"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CIMB"],"abstract":"<jats:p>The COL3A1 gene, encoding the pro-alpha chain of type III collagen, has been implicated in a range of collagen-mediated diseases such as Ehlers\u2013Danlos syndrome and aortic aneurysms. In this report, we present evidence for the first time associating a single nucleotide variant p.P517R in exon 22 of COL3A1 with the development of diffuse coronary aneurysms in a human subject without prior atherosclerotic cardiovascular disease, connective tissue disorder, or phenotypic characteristics diagnostic for vascular Ehlers\u2013Danlos syndrome. Computational modeling of this specific variant in AlphaFold and in silico analyses predict deleterious alterations in the structure and function of the COL3A1 gene product, alpha 1 chain of type III collagen. This novel phenotype-to-genotype correlation should prompt further investigation into the mechanistic basis of this association.<\/jats:p>","DOI":"10.3390\/cimb47020082","type":"journal-article","created":{"date-parts":[[2025,1,28]],"date-time":"2025-01-28T07:54:08Z","timestamp":1738050848000},"page":"82","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The Novel Association of a Single Nucleotide Variant in the COL3A1 Gene with Diffuse Coronary Aneurysms"],"prefix":"10.3390","volume":"47","author":[{"given":"Charlene","family":"Norgan Radler","sequence":"first","affiliation":[{"name":"Sathyamoorthy Laboratory, Department of Medicine, Burnett School of Medicine at TCU, Fort Worth, TX 76104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-9123-8080","authenticated-orcid":false,"given":"Kevin","family":"Ku","sequence":"additional","affiliation":[{"name":"Sathyamoorthy Laboratory, Department of Medicine, Burnett School of Medicine at TCU, Fort Worth, TX 76104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Hodge","sequence":"additional","affiliation":[{"name":"Sathyamoorthy Laboratory, Department of Medicine, Burnett School of Medicine at TCU, Fort Worth, TX 76104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tianci","family":"Wang","sequence":"additional","affiliation":[{"name":"Sathyamoorthy Laboratory, Department of Medicine, Burnett School of Medicine at TCU, Fort Worth, TX 76104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-6542-0746","authenticated-orcid":false,"given":"Peyton","family":"Moore","sequence":"additional","affiliation":[{"name":"Sathyamoorthy Laboratory, Department of Medicine, Burnett School of Medicine at TCU, Fort Worth, TX 76104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1686-9264","authenticated-orcid":false,"given":"Mohanakrishnan","family":"Sathyamoorthy","sequence":"additional","affiliation":[{"name":"Sathyamoorthy Laboratory, Department of Medicine, Burnett School of Medicine at TCU, Fort Worth, TX 76104, USA"},{"name":"Consultants in Cardiovascular Medicine and Science, Fort Worth, TX 76104, USA"},{"name":"Fort Worth Institute for Molecular Medicine and Genomics Research, Fort Worth, TX 76104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1016\/j.jcin.2018.02.041","article-title":"Management of Coronary Artery Aneurysms","volume":"11","author":"Kawsara","year":"2018","journal-title":"JACC Cardiovasc. 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