RESUMO
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.
