The Association of Novel Single-Nucleotide Variants in the Collagen Matrix-Encoding Gene PRDM5 with Aortic Aneurysmal Disease

Thoracic aortic aneurysms are clinical conditions that are associated with severe clinical endpoints including dissection and rupture, potentially leading to sudden death. Contrary to their abdominal counterparts, thoracic aortic aneurysms are well-recognized to have a genetic basis underlying their...

Full description

Saved in:
Bibliographic Details
Published inLife (Basel, Switzerland) Vol. 13; no. 8; p. 1649
Main Authors Moore, Peyton, Wolf, Adam, Sathyamoorthy, Mohanakrishnan
Format Journal Article
LanguageEnglish
Published Basel MDPI AG 01.08.2023
MDPI
Subjects
Amino acids
Aorta
aortic aneurysm
Aortic aneurysms
aortic dissection
collagen matrix proteins
Communication
Coronary vessels
Disease
Dissection
Extracellular matrix
Genes
genetic basis of aortic disease
Genetic counseling
Genetic screening
Genetic testing
Growth factors
Marfan syndrome
Medical imaging
Mutation
Nucleotides
Patients
PRDM5
Smooth muscle
Thorax
Tomography
White people
Online AccessGet full text

Cover

More Information
Summary:Thoracic aortic aneurysms are clinical conditions that are associated with severe clinical endpoints including dissection and rupture, potentially leading to sudden death. Contrary to their abdominal counterparts, thoracic aortic aneurysms are well-recognized to have a genetic basis underlying their development. Among all patients with aneurysmal disease who underwent clinical genetic screening in our program (N = 145), two patients were found to have variants of uncertain significance (VUS) in the PRDM5 gene. This gene is responsible for multiple regulatory functions in extracellular matrix development, and this is the first report, to our knowledge, to associate this gene with aortopathy.
ISSN:2075-1729
2075-1729
DOI:10.3390/life13081649