title: Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.
abstract: Pathogenic germline mutations in ELN can be detected in patients with supravalvular aortic stenosis. The mutation might occur de novo or be inherited following an autosomal dominant pattern of inheritance. In this report we describe a three-generation family suffering from supravalvular aortic stenosis, various other arterial stenoses, sudden death, and intracranial aneurysms. A frameshift mutation in exon 12, not described before, was detected in the affected family members. This report emphasises the importance of family history, genetic counselling, and demonstrates the great variability in the phenotype within a single SVAS family.
authors.affiliation: Department of Clinical Genetics, Odense University Hospital, Sdr.Boulevard 29, 5000 Odense C, Denmark. Electronic address: anne.marie.jelsig@rsyd.dk.
authors.forename: Anne Marie
authors.initials: AM
authors.lastname: Jelsig
authors.affiliation: Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh 15261, USA.
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Urban
authors.affiliation: Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.
authors.forename: Vishwanathan
authors.initials: V
authors.lastname: Hucthagowder
authors.affiliation: Department of Cardiology, Odense University Hospital, Odense C, Denmark.
authors.forename: Henrik
authors.initials: H
authors.lastname: Nissen
authors.affiliation: Department of Clinical Genetics, Odense University Hospital, Sdr.Boulevard 29, 5000 Odense C, Denmark.
authors.forename: Lilian Bomme
authors.initials: LB
authors.lastname: Ousager
mesh_terms: D000328:Adult; D021921:Aortic Stenosis, Supravalvular / Q000235:genetics* / Q000503:physiopathology; D004549:Elastin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005817:Genetic Counseling; D018095:Germ-Line Mutation; D006801:Humans; D002532:Intracranial Aneurysm / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype
chemical_list: D004549:Elastin
keywords: ELN; Intracranial aneurysm; Sudden death; Supravalvular aortic stenosis