John Rosendahl Østergaard

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

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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.

Original languageEnglish
Article numberA4949
JournalDanish Medical Journal
Volume61
Issue11
Number of pages4
ISSN2245-1919
Publication statusPublished - Nov 2014

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