{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T04:12:21Z","timestamp":1790655141908,"version":"4.1.0"},"reference-count":42,"publisher":"MDPI AG","issue":"24","license":[{"start":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T00:00:00Z","timestamp":1734912000000},"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":["IJMS"],"abstract":"<jats:p>After reporting the first known clinical case associating compound heterozygous single-nucleotide variants in Exon 2 of ZNF469 to aortic aneurysmal and iliac dissection, we began prospective surveillance in our vascular genetic practice for similar cases. Herein, we present nine (9) subjects from a total cohort of 135 with arterial aneurysms or dissections who revealed single-nucleotide variants in ZNF469 with no other alterations in a panel of 35 genes associated with aneurysmal and dissection disorders. Five out of nine (5\/9) single-nucleotide variants were in Exon 1, and four out of nine (4\/9) mutations were in Exon 2, both of which are principal coding exons for this gene. Eight out of nine (8\/9) were ACMG variants of unknown significance (VUSs), and one out of nine (1\/9) was an ACMG pathogenic mutation previously associated to brittle cornea syndrome (BCS). Of our nine subjects, four (44.4%) experienced clinically significant vascular dissection, and four (44.4%) had a family history of one or more first-degree relatives with aneurysmal or dissection diseases. This novel genetic case series significantly strengthens our initial discovery of ZNF469\u2019s potential association with arterial aneurysmal\/dissection diseases through the study of this cohort of unrelated patients.<\/jats:p>","DOI":"10.3390\/ijms252413730","type":"journal-article","created":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T05:58:27Z","timestamp":1734933507000},"page":"13730","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Possible Phenotype-to-Genotype Association of Novel Single-Nucleotide Variants in the Coding Exons of the ZNF469 Gene to Arterial Aneurysmal and Dissection Diseases"],"prefix":"10.3390","volume":"25","author":[{"given":"Adam","family":"Wolf","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\/0009-0002-6542-0746","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\/0000-0002-0424-8252","authenticated-orcid":false,"given":"Charles","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Medicine, College of Human Medicine, Michigan State University, East Lansing, MI 48824, 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":[[2024,12,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"S20","DOI":"10.1097\/IJG.0000000000000108","article-title":"Biology of the extracellular matrix: An overview","volume":"23","author":"Yue","year":"2014","journal-title":"J. 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