Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.

ABSTRACT:

Background

Thoracic aortic aneurysms progressively enlarge and predispose to acute aortic dissections. Up to 25% of individuals with thoracic aortic disease harbor an underlying Mendelian pathogenic variant. An evidence-based strategy for selection of genes to test in hereditary thoracic aortic aneurysm and dissection (HTAAD) helps inform family screening and intervention to prevent life-threatening thoracic aortic events.

Objectives

The purpose of this study was to accurately identify genes that predispose to HTAAD using the Clinical Genome Resource (ClinGen) framework.

Methods

We applied the semiquantitative ClinGen framework to assess presumed gene-disease relationships between 53 candidate genes and HTAAD. Genes were classified as causative for HTAAD if they were

SUBMITTER: Renard M 

PROVIDER: S-EPMC6378369 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature