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

作者：Rasmussen Maria^*; Pedersen Steen Fjord; Sunde Lone; Andersen Niels Holmmark; Ostergaard John R; Lildballe Dorte L

来源：Danish Medical Journal, 2014, 61(11): A4949.

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. %26lt;br%26gt;METHODS AND MATERIAL: 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 in the index patient. %26lt;br%26gt;RESULTS: A novel variant (c.701G%26gt;T) in the FBN1 segregated with Marfan features in the family. %26lt;br%26gt;CONCLUSION: In the majority of the family members, this novel variant seems to cause a uniform and very detrimental set of disease characteristics including fatal aortic dissection.

• 出版日期2014-11