The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus.

ABSTRACT:

Background

Thoracic aortic aneurysms and dissections (TAAD) is a critical condition that often goes undiagnosed with fatal consequences. While majority of the cases are sporadic, more than 20% are inherited as a single gene disorder. The most common familial TAA is Marfan syndrome (MFS), which is primarily caused by mutations in fibrillin-1 (FBN1) gene. Patients with FBN1 mutations are at higher risk for dissection compared to other patients with similar size aneurysms.

Methods

Fifteen family members were genotyped using Affymetrix-10K genechips. A genome-wide association study was carried out using an autosomal dominant model of inheritance with incomplete penetrance. Mutation screening of all exons and exon-intron boundaries of FBN1 gene which reside near the peak Lod scor

SUBMITTER: Keramati AR 

PROVIDER: S-EPMC2958900 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature