Version 1
: Received: 17 August 2024 / Approved: 19 August 2024 / Online: 20 August 2024 (11:02:57 CEST)
How to cite:
Moore, P.; Bryant, G.; Smitherman, K.; Sathyamoorthy, M. The Association of a Single Nucleotide Variants in TNXB to Arterial Aneurysmal Diseases. Preprints2024, 2024081376. https://doi.org/10.20944/preprints202408.1376.v1
Moore, P.; Bryant, G.; Smitherman, K.; Sathyamoorthy, M. The Association of a Single Nucleotide Variants in TNXB to Arterial Aneurysmal Diseases. Preprints 2024, 2024081376. https://doi.org/10.20944/preprints202408.1376.v1
Moore, P.; Bryant, G.; Smitherman, K.; Sathyamoorthy, M. The Association of a Single Nucleotide Variants in TNXB to Arterial Aneurysmal Diseases. Preprints2024, 2024081376. https://doi.org/10.20944/preprints202408.1376.v1
APA Style
Moore, P., Bryant, G., Smitherman, K., & Sathyamoorthy, M. (2024). The Association of a Single Nucleotide Variants in TNXB to Arterial Aneurysmal Diseases. Preprints. https://doi.org/10.20944/preprints202408.1376.v1
Chicago/Turabian Style
Moore, P., Katherine Smitherman and Mohanakrishnan Sathyamoorthy. 2024 "The Association of a Single Nucleotide Variants in TNXB to Arterial Aneurysmal Diseases" Preprints. https://doi.org/10.20944/preprints202408.1376.v1
Abstract
Thoracic aortic and arterial aneurysms are cardiovascular conditions associated with life-threatening endpoints including dissection and rupture. The genetic basis underlying the development these disease states is an evolving field, and the reporting of variants associated with aneurysms in patients are essential for advancing screening and diagnostic tools. Among all patients in our program who underwent clinical genetic screening (N=145) for arterial aneurysm and dissection disorders, we identified three patients with single nucleotide variants in the TNXB gene. This gene has known roles in collagen fibrillogenesis and classic Ehlers Danlos Syndrome. This is one of the first reports to associate this gene with aortopathy/arteriopathy and advances the literature relating extracellular matrix genes to arterial aneurysm development.
Medicine and Pharmacology, Cardiac and Cardiovascular Systems
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
