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Molecular genetics of Marfan syndrome

Catherine Boileau1, Guillaume Jondeau, Takeshi Mizuguchi

  • 1INSERM U383, Hôpital Necker-Enfants Malades, Université Paris 5, Paris, France. catherine.boileau@apr.aphp.fr

Current Opinion in Cardiology
|April 30, 2005
PubMed
Abstract

Insights

Marfan syndrome is linked to FBN1 and TGFBR2 gene mutations affecting connective tissues. Research explores these genetic links and their impact on the skeletal, ocular, and cardiovascular systems.

Area of Science:

  • Genetics and Molecular Biology
  • Connective Tissue Disorders
  • Cardiovascular Research

Background:

  • Marfan syndrome, a primary connective tissue disorder, affects skeletal, ocular, and cardiovascular systems due to microfibril alterations.
  • FBN1 mutations identified in 1991 cause Marfan syndrome; TGFBR2 mutations identified in 2004 cause Marfan syndrome type II.
  • Studies suggest a functional link between fibrillin-1 and transforming growth factor-beta (TGF-beta) signaling in the extracellular matrix.

Purpose of the Study:

  • To review recent molecular genetics advances in Marfan syndrome and related connective tissue disorders.
  • To present the mutation spectrum of FBN1 and TGFBR2 genes in relation to patient phenotypes.
  • To discuss the functional relationship between fibrillin-1 and TGF-beta signaling.

Main Methods:

  • Review of existing literature on Marfan syndrome genetics.
  • Analysis of mutation spectra for FBN1 and TGFBR2 genes.
  • Discussion of functional associations between fibrillin-1 and TGF-beta signaling.

Main Results:

  • Over 500 FBN1 mutations identified, with emerging genotype-phenotype correlations and insights from mouse models.
  • Limited TGFBR2 mutations reported, but also linked to a new aneurysm syndrome in 2005.
  • Functional association between fibrillin-1 and TGF-beta signaling in the extracellular matrix is established.

Conclusions:

  • Recent molecular genetics research has advanced understanding of Marfan syndrome and overlapping disorders.
  • The mutation spectrum of FBN1 and TGFBR2, and their phenotypic correlations, are increasingly understood.
  • The functional relationship between fibrillin-1 and TGF-beta signaling is a key area of ongoing study.

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