A new mutation in the elastin gene causing supravalvular aortic stenosis.
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.
Boeckel
T
T
German Heart Center, Section of Pediatric Cardiology, Medical Faculty of the Charité, Humboldt University of Berlin.
Dierks
A
A
Vergopoulos
A
A
Bähring
S
S
Knoblauch
H
H
Müller-Myhsok
B
B
Baron
H
H
Aydin
A
A
Bein
G
G
Luft
F C
FC
Schuster
H
H
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001024:Aortic Valve Stenosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D018388:Codon, Terminator / Q000235:genetics; D004549:Elastin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation
D018388:Codon, Terminator; D004549:Elastin