LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

ABSTRACT:

Rationale

Mutations in several genes have been identified that are responsible for 25% of families with familial thoracic aortic aneurysms and dissections. However, the causative gene remains unknown in 75% of families.

Objectives

To identify the causative mutation in families with autosomal dominant inheritance of thoracic aortic aneurysms and dissections.

Methods and results

Exome sequencing was used to identify the mutation responsible for a large family with thoracic aortic aneurysms and dissections. A heterozygous rare variant, c.839G>T (p.Ser280Arg), was identified in LOX, encoding a lysyl oxidase, that segregated with disease in the family. Sanger and exome sequencing was used to investigate mutations in LOX in an additional 410 probands from unrelated families

SUBMITTER: Guo DC 

PROVIDER: S-EPMC4839295 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature