Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm

Anne Marie Jelsig, Zsolt Urban, Vishwanathan Hucthagowder, Henrik Nissen, Lilian Bomme Ousager

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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.

Original languageEnglish
JournalEuropean Journal of Medical Genetics
Volume60
Issue number2
Pages (from-to)110–113
ISSN1769-7212
DOIs
Publication statusPublished - 2017

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