Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

ABSTRACT:

Background

Aneurysms affecting the aorta are a common condition associated with high mortality as a result of aortic dissection or rupture. Investigations of the pathogenic mechanisms involved in syndromic types of thoracic aortic aneurysms, such as Marfan and Loeys-Dietz syndromes, have revealed an important contribution of disturbed transforming growth factor (TGF)-β signaling.

Objectives

This study sought to discover a novel gene causing syndromic aortic aneurysms in order to unravel the underlying pathogenesis.

Methods

We combined genome-wide linkage analysis, exome sequencing, and candidate gene Sanger sequencing in a total of 470 index cases with thoracic aortic aneurysms. Extensive cardiological examination, including physical examination, electrocardiography,

SUBMITTER: Bertoli-Avella AM 

PROVIDER: S-EPMC4380321 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature