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Article

A novel FBN1 variant in a large Marfan family with high penetrance of aortic dissection or rupture.

Danish medical journal - 1 Nov 2014

Rasmussen Maria, Pedersen Steen Fjord, Sunde Lone, Andersen Niels Holmmark, Ostergaard John R, Lildballe Dorte L

Abstract excerpt

INTRODUCTION: Marfan syndrome is an autosomal, dominantly inherited disorder of the connective tissue. We report the clinical data and results of a genetic analysis of a large Danish Marfan family. METHODS: Sanger sequencing of FBN1 was initially performed on genomic DNA from the index patient. Subsequently, four affected family members and three non-affected family members were tested for the variant identified...

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Identifiers

PMID: 25370960

Genes

FBN1

Variants

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