Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports.

ABSTRACT:

Background

Thoracic aortic aneurysm and dissection (TAA/D) represents a potentially lethal disease group characterized by an increased risk of dissection or rupture. Only a small percentage (approximately 30%) of individuals with nonsyndromic familial TAA/D have a pathogenic variant in one of the genes that have been found to be associated with the disease.

Methods

A targeted sequencing panel and direct sequencing approach were used to identify causative mutations in the index patients and other family members.

Results

In this study we report two apparently unrelated Cypriot families with nonsyndromic familial TAA/D. The proband A is a female patient diagnosed with TAA/D and intracranial aneurysm and opted for an elective intervention. The proband B is a male patient

SUBMITTER: Keravnou A 

PROVIDER: S-EPMC7507478 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature