Mutation Analysis of the FBN1 Gene in Patients With Marfan Syndrome

  • Paul Coucke
  • Petra Van Acker
  • Anne De Paepe
Part of the Methods in Molecular Medicine book series (MIMM, volume 126)


Marfan syndrome is an autosomal-dominant connective tissue disorder characterized by pleiotropic manifestations involving the skeletal, ocular, and cardiovascular systems and resulting from mutations in the gene for fibrillin, FBN1. The clinical diagnosis is based on a set of well-defined clinical criteria (Ghent nosology). Nevertheless, the age-related nature of some clinical manifestations and the variable phenotypic expression of the disorder may hamper the diagnosis. In those instances, molecular analysis of the FBN1 gene is helpful to identify at-risk individuals. Mutations are spread over the entire FBN1 gene and there are no particular hot spots. Different standard methodologies are available to identify these mutations, however, one of the most sensitive techniques is denaturing high-performance liquid chromatography. This approach allows the performance of the analysis in a semi-automated manner and has a mutation detection rate of approx 95%.

Key Words

Marfan syndrome fibrillin-1 molecular diagnosis mutation analysis DHPLC 


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Copyright information

© Humana Press Inc. 2006

Authors and Affiliations

  • Paul Coucke
    • 1
  • Petra Van Acker
    • 1
  • Anne De Paepe
    • 1
  1. 1.Department of Medical GeneticsGhent University HospitalGhentBelgium

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