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

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 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 detrimental set of disease characteristics including fatal aortic dissection.

FUNDING: not relevant.

TRIAL REGISTRATION: not relevant.