title: A novel FBN1 variant in a large Marfan family with high penetrance of aortic dissection or rupture.
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  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.
  
  
  BACKGROUND
  not relevant.
  
  
  BACKGROUND
  not relevant.
authors.affiliation: Klinisk Genetisk Afdeling, Aarhus Universitetshospital, Skejby, Brendstrupgårdsvej 21 C, 8200 Aarhus N, Denmark. marirasm@rm.dk.
authors.forename: Maria
authors.initials: M
authors.lastname: Rasmussen
authors.forename: Steen Fjord
authors.initials: SF
authors.lastname: Pedersen
authors.forename: Lone
authors.initials: L
authors.lastname: Sunde
authors.forename: Niels Holmmark
authors.initials: NH
authors.lastname: Andersen
authors.forename: John R
authors.initials: JR
authors.lastname: Ostergaard
authors.forename: Dorte L
authors.initials: DL
authors.lastname: Lildballe
mesh_terms: D001019:Aortic Rupture / Q000235:genetics; D003718:Denmark / Q000208:ethnology; D005091:Exons / Q000235:genetics; D000071838:Fibrillin-1; D000071837:Fibrillins; D056726:Genetic Association Studies; D014644:Genetic Variation; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D012189:Retrospective Studies; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines