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Identification of Single-Nucleotide Polymorphisms in ZNF469 in a Patient with Aortoiliac Aneurysmal Disease
Wolf, Adam Khimani, Faria Sathyamoorthy, Mohanakrishnan
Wolf, Adam
Khimani, Faria
Sathyamoorthy, Mohanakrishnan
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Composer
Publisher
MDPI AG
Date
2022
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Abstract
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.
Contents
Subject
Thoracic aortic aneurysm
Dissection (medical)
Aneurysm
Extracellular matrix
Disease
Medicine
Single-nucleotide polymorphism
Gene
Aortic aneurysm
Pathology
Radiology
Genetics
Biology
Genotype
Dissection (medical)
Aneurysm
Extracellular matrix
Disease
Medicine
Single-nucleotide polymorphism
Gene
Aortic aneurysm
Pathology
Radiology
Genetics
Biology
Genotype
Subject(s)
Research Projects
Organizational Units
Journal Issue
Genre
Description
Format
Department
Burnett School of Medicine