Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection.

ABSTRACT:

Background

Marfan syndrome (MFS) is an inherited connective tissue disease that mainly involves Fibrillin-1 (FBN1) mutations and aortic manifestations. In this study, we investigated the correlations between the FBN1 genotype-phenotype and aortic events (aortic dissection and aortic aneurysm) in patients with Marfan syndrome.

Methods

Genotype and phenotype information was evaluated in 180 patients with MFS. DNA sequencing was performed on each patient. According to the clinical manifestation, these patients were split into two groups: the aortic dissection group and the aortic aneurysm group. Aortic wall tissue was obtained from Marfan patients who underwent surgery and was used for staining.

Results

A total of 180 patients with FBN1 mutations were grouped into four c

SUBMITTER: Xu S 

PROVIDER: S-EPMC6978253 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature