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Marfan syndrome in the third Millennium

Gwenaëlle Collod-Béroud1, Catherine Boileau

  • 1INSERM U383, Université Paris V, Hôpital Necker-Enfants Malades, 149-161 rue de sèvres, 75743 Paris Cedex 15, France.

European Journal of Human Genetics : EJHG
|October 31, 2002
PubMed

Insights

Marfan syndrome (MFS) is a connective tissue disorder affecting multiple systems. Research advances, including animal models, enhance understanding of MFS pathogenesis and clinical variability.

Area of Science:

  • Genetics and Molecular Biology
  • Connective Tissue Disorders
  • Syndromology

Background:

  • Marfan syndrome (MFS) is a heritable connective tissue disorder.
  • MFS affects skeletal, ocular, and cardiovascular systems, with less studied involvement of lung, skin, and dura.
  • Significant clinical variability in onset and severity exists among patients.

Purpose of the Study:

  • To review current knowledge on Marfan syndrome.
  • To explore the structure and function of fibrillin-1 and related proteins.
  • To discuss FBN1 gene mutations, pathogenic mechanisms, and animal models.

Main Methods:

  • Review of accumulated clinical, molecular, and protein data.
  • Analysis of findings from natural and transgenic animal models.
  • Discussion of laboratory diagnostic tests and their limitations.

Main Results:

  • Recent data provide deeper insights into MFS pathogenesis.
  • Understanding of pleiotropic manifestations and clinical variability has improved.
  • Fibrillin-1 structure, function, FBN1 mutations, and animal models are key areas of study.

Conclusions:

  • Advances in research offer a better grasp of Marfan syndrome.
  • Continued investigation into fibrillin-1 and FBN1 is crucial.
  • Current diagnostic tests have limitations that warrant further development.

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