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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.

International journal of molecular sciences - 23 Dec 2024

Wolf Adam, Moore Peyton, Hong Charles, Sathyamoorthy Mohanakrishnan

Abstract excerpt

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...

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Aneurysm
Aortic Dissection
Exons
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Predisposition to Disease

Polymorphism, Single Nucleotide

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PMID: 39769491
DOI: 10.3390/ijms252413730

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