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.

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Bibliographische Detailangaben
Veröffentlicht in:	The American journal of cardiology 1999-04, Vol.83 (7), p.1141-1143
Hauptverfasser:	Boeckel, Thomas, Dierks, Astrid, Vergopoulos, Athanasios, Bähring, Sylvia, Knoblauch, Hans, Müller-Myhsok, Bertram, Baron, Heike, Aydin, Atakan, Bein, Georg, Luft, Friedrich C, Schuster, Herbert
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Aged, 80 and over Aortic Valve Stenosis - genetics Biological and medical sciences Cardiology Cardiology. Vascular system Cardiovascular disease Child Child, Preschool Codon, Terminator - genetics Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava Elastin - genetics Exons - genetics Female Frameshift Mutation Genes Genotype Haplotypes Heart Humans Infant Male Medical sciences Middle Aged Mutation Pedigree Point Mutation
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Beschreibung
Zusammenfassung:	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.
ISSN:	0002-9149 1879-1913
DOI:	10.1016/S0002-9149(99)00032-6