Identification of Single-Nucleotide Polymorphisms in ZNF469 in a Patient with Aortoiliac Aneurysmal Disease
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Sathyamoorthy Lab, Texas Christian University School of Medicine, Fort Worth, TX 76129, USA
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Department of Medicine, Texas Christian University School of Medicine, Fort Worth, TX 76129, USA
3
Consultants in Cardiovascular Medicine and Science—Fort Worth, 1121 5th Avenue, Suite 100, Fort Worth, TX 76104, USA
*
Author to whom correspondence should be addressed.
Academic Editor: George E. Louridas
Cardiogenetics 2022, 12(3), 212-217; https://doi.org/10.3390/cardiogenetics12030020
Received: 15 May 2022
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Revised: 14 June 2022
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Accepted: 23 June 2022
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Published: 28 June 2022
(This article belongs to the Section Cardiovascular Genetics in Clinical Practice)
Thoracic aortic aneurysms and dissections often have inter-related pathologies that are increasingly recognized to have a genetic basis. A patient with a vascular history consisting of a spontaneous aorto-iliac dissection and thoracic aortic aneurysm belonged to a family with a significant self-reported history of aneurysmal disease. Suspecting a genetic component, genetic investigation was undertaken. Three variants of unknown significance were found in the ZNF469 gene, which is responsible for the production of a collagen-related zinc finger protein involved in multiple aspects of the development and regulation of major extracellular matrix components. This is the first report to associate this gene with vasculopathy, and further investigation by our group is underway to understand the role it plays in the development of aneurysmal diseases.
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Keywords:
ZNF469; aortic aneurysm; iliac aneurysm; aortic dissection; iliac arterial dissection; genetic basis of aortic disease; aortopathy
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MDPI and ACS Style
Wolf, A.; Khimani, F.; Sathyamoorthy, M. Identification of Single-Nucleotide Polymorphisms in ZNF469 in a Patient with Aortoiliac Aneurysmal Disease. Cardiogenetics 2022, 12, 212-217. https://doi.org/10.3390/cardiogenetics12030020
AMA Style
Wolf A, Khimani F, Sathyamoorthy M. Identification of Single-Nucleotide Polymorphisms in ZNF469 in a Patient with Aortoiliac Aneurysmal Disease. Cardiogenetics. 2022; 12(3):212-217. https://doi.org/10.3390/cardiogenetics12030020
Chicago/Turabian StyleWolf, Adam, Faria Khimani, and Mohanakrishnan Sathyamoorthy. 2022. "Identification of Single-Nucleotide Polymorphisms in ZNF469 in a Patient with Aortoiliac Aneurysmal Disease" Cardiogenetics 12, no. 3: 212-217. https://doi.org/10.3390/cardiogenetics12030020
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