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

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• 作者：Anne Marie Jelsig^a ; ^{anne.marie.jelsig@rsyd.dk} ; Zsolt Urban^b ; Vishwanathan Hucthagowder^c ; Henrik Nissen^d ; Lilian Bomme Ousager^a
• 关键词：ELN ; Supravalvular aortic stenosis ; Intracranial aneurysm ; Sudden death
• 刊名：European Journal of Medical Genetics
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：60
• 期：2
• 页码：110-113
• 全文大小：547 K
• 卷排序：60

文摘

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.