Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.

ABSTRACT:

Background

Thoracic aortic aneurysm and dissection (TAAD) is a hidden-onset but life-threatening disorder with high clinical variability and genetic heterogeneity. In recent years, an increasing number of genes have been identified to be related to TAAD. However, some genes remain uncertain because of limited case reports and/or functional studies. LTBP3 was such an ambiguous gene that was previously known for dental and skeletal dysplasia and then noted to be associated with TAAD. More research on individuals or families harboring variants in this gene would be helpful to obtain full knowledge of the disease and clarify its association with TAAD.

Methods

A total of 266 TAAD probands with no causative mutations in known genes had been performed wholeexome sequencing (WES) to

SUBMITTER: Zhu G 

PROVIDER: S-EPMC8670144 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature