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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.

SUBMITTER: Jelsig AM

PROVIDER: S-EPMC5843366 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature

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

Jelsig Anne Marie AM Urban Zsolt Z Hucthagowder Vishwanathan V Nissen Henrik H Ousager Lilian Bomme LB

European journal of medical genetics 20161116 2

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 emphasi ...[more]

PMID: 27866049

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Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis.

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