Familial aortic disease and a large duplication in chromosome 16p13.1.

ABSTRACT:

Background and purpose

A recurrent duplication of chromosome 16p13.1 was associated with aortic dissection as well as with cervical artery dissection. We explore the segregation of this duplication in a family with familial aortic disease.

Methods

Whole exome sequencing (WES) analysis was performed in a patient with a family history of aortic diseases and ischemic stroke due to an aortic dissection extending into both carotid arteries.

Results

The index patient, his affected father, and an affected sister of his father carried a large duplication of region 16p13.1, which was also verified by quantitative PCR. The duplication was also found in clinically asymptomatic sister of the index patient. WES did not detect pathogenic variants in a predefined panel of 11 genes a

SUBMITTER: Erhart P 

PROVIDER: S-EPMC6014459 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature