Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis.

ABSTRACT:

Background

Supravalvular aortic stenosis (SVAS) is one of the congenital cardiovascular diseases characterized by stenosis of the aorta. The stenotic lesions occur anywhere above the aortic valve in the aortic tree as well as pulmonary arteries and eventually leads to circulatory failure. The disease gene has been identified on the elastin gene (ELN) and two types of SVAS have been categorized; a familial type and an isolated type with the de novo mutation.

Methods

Fluorescent In situ hybridization (FISH) analysis and gene sequencing were performed in a two-generation family in which severe form of SVAS was diagnosed.

Results

None of the patients tested showed microdeletion of ELN, LIMK1, and D7S613. A novel nonsense mutation of ELN (c.160G>T (p.(Gly54*)), RNA not ana

SUBMITTER: Sugiyama K 

PROVIDER: S-EPMC6825854 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature