Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder

И. А. Гончарова; Sofia A. Shipulina; Aleksei A. Sleptcov; А. А. Зарубин; N. R. Valiakhmetov; Д. С. Панфилов; E. V. Lelik; В. В. Саушкин; Б. Н. Козлов; Л. П. Назаренко; М. С. Назаренко

doi:10.3390/ijms25158315

July 30, 2024International Journal of Molecular SciencesOpen Access

Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder

View Full Paper

Ask AI

Bookmark

Share

Key Points

No pathogenic mutations were detected in classical disease-causing genes, but rare variants of uncertain significance appeared in sporadic cases.
Only 9.8% of analyzed patients carried variants of uncertain significance, with six distinct alterations identified across the candidate loci.
Massive parallel sequencing was conducted across exons of 53 disease-causing genes, profiling forty-one individuals without aortic dissection.
Highlights that sporadic thoracic aortic disease rarely stems from monogenic hereditary lesions, pointing toward polygenic genetic architecture.

Ask about this paper

Answers are grounded in this paper and cite their sources.

Implication

Massive parallel sequencing reveals six variants of uncertain significance in nonsyndromic sporadic thoracic aortic aneurysm, suggesting limited involvement of classical hereditary genes.

Abstract

Nonsyndromic sporadic thoracic aortic aneurysm (nssTAA) is characterized by diverse genetic variants that may vary in different populations. Our aim was to identify clinically relevant variants in genes implicated in hereditary aneurysms in Russian patients with nssTAA. Forty-one patients with nssTAA without dissection were analyzed. Using massive parallel sequencing, we searched for variants in exons of 53 known disease-causing genes. Patients were found to have no (likely) pathogenic variants in the genes of hereditary TAA. Six variants of uncertain significance (VUSs) were identified in four (9.8%) patients. Three VUSs [

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Гончарова et al. (2024) studied this question.

synapsesocial.com/papers/68e5e6ffb6db64358757c298 https://doi.org/10.3390/ijms25158315

View Full Paper

Ask AI

Bookmark

Share

Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Keep reading

Keep reading