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

INTRODUCTION: Marfan syndrome is an autosomal, dom­ inantly inherited disorder of the connective tissue. We re­ port the clinical data and results of a genetic analysis of a large Danish Marfan family. 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 iden­ tified in the index patient. RESULTS: A novel variant (c.701G>T) in the FBN1 segregated with Marfan features in the family. CONCLUSION: In the majority of the family members, this novel variant seems to cause a uniform and very detrimen­ tal set of disease characteristics including fatal aortic dissec­ tion. FUNDING: not relevant.