A new mutation in the elastin gene causing supravalvular aortic stenosis

T Boeckel; A Dierks; A Vergopoulos; S Bähring; H Knoblauch; B Müller-Myhsok; H Baron; A Aydin; G Bein; F C Luft; H Schuster

doi:10.1016/s0002-9149(99)00032-6

A new mutation in the elastin gene causing supravalvular aortic stenosis

Am J Cardiol. 1999 Apr 1;83(7):1141-3, A9-10. doi: 10.1016/s0002-9149(99)00032-6.

Authors

T Boeckel¹, A Dierks, A Vergopoulos, S Bähring, H Knoblauch, B Müller-Myhsok, H Baron, A Aydin, G Bein, F C Luft, H Schuster

Affiliation

¹ German Heart Center, Section of Pediatric Cardiology, Medical Faculty of the Charité, Humboldt University of Berlin.

PMID: 10190538
DOI: 10.1016/s0002-9149(99)00032-6

Abstract

A large supravalvular aortic stenosis kindred, with a point mutation in exon 18 and a stop codon in exon 22 of the elastin gene, is described. Clinically, the disease severity appeared to increase in successive generations in this family.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
Aged, 80 and over
Aortic Valve Stenosis / genetics*
Child
Child, Preschool
Codon, Terminator / genetics
Elastin / genetics*
Exons / genetics
Female
Frameshift Mutation
Genotype
Haplotypes
Humans
Infant
Male
Middle Aged
Pedigree
Point Mutation*

Substances

Codon, Terminator
Elastin