The molecular genetics of Marfan syndrome and related disorders

Peter N. Robinson, E. Arteaga-Solis, C. Baldock, G. Collod-Béroud, P. Booms, A. De Paepe, H. C. Dietz, G. Guo, P. A. Handford, D. P. Judge, C. M. Kielty, B. Loeys, D. M. Milewicz, A. Ney, F. Ramirez, D. P. Reinhardt, K. Tiedemann, P. Whiteman, Maurice Godfrey

Research output: Contribution to journalReview article

242 Citations (Scopus)

Abstract

Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the gene for fibrillin-1 (FBN1). The leading cause of premature death in untreated individuals with MFS is acute aortic dissection, which often follows a period of progressive dilatation of the ascending aorta. Recent research on the molecular physiology of fibrillin and the pathophysiology of MFS and related disorders has changed our understanding of this disorder by demonstrating changes in growth factor signalling and in matrix-cell interactions. The purpose of this review is to provide a comprehensive overview of recent advances in the molecular biology of fibrillin and fibrillin-rich microfibrils. Mutations in FBN1 and other genes found in MFS and related disorders will be discussed, and novel concepts concerning the complex and multiple mechanisms of the pathogenesis of MFS will be explained.

Original languageEnglish (US)
Pages (from-to)769-787
Number of pages19
JournalJournal of medical genetics
Volume43
Issue number10
DOIs
StatePublished - Oct 1 2006

Fingerprint

Marfan Syndrome
Molecular Biology
Microfibrils
Mutation
Premature Mortality
Cardiovascular System
Cell Communication
Connective Tissue
Genes
Aorta
Dissection
Dilatation
Cause of Death
Intercellular Signaling Peptides and Proteins
Research
Fibrillins

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Robinson, P. N., Arteaga-Solis, E., Baldock, C., Collod-Béroud, G., Booms, P., De Paepe, A., ... Godfrey, M. (2006). The molecular genetics of Marfan syndrome and related disorders. Journal of medical genetics, 43(10), 769-787. https://doi.org/10.1136/jmg.2005.039669

The molecular genetics of Marfan syndrome and related disorders. / Robinson, Peter N.; Arteaga-Solis, E.; Baldock, C.; Collod-Béroud, G.; Booms, P.; De Paepe, A.; Dietz, H. C.; Guo, G.; Handford, P. A.; Judge, D. P.; Kielty, C. M.; Loeys, B.; Milewicz, D. M.; Ney, A.; Ramirez, F.; Reinhardt, D. P.; Tiedemann, K.; Whiteman, P.; Godfrey, Maurice.

In: Journal of medical genetics, Vol. 43, No. 10, 01.10.2006, p. 769-787.

Research output: Contribution to journalReview article

Robinson, PN, Arteaga-Solis, E, Baldock, C, Collod-Béroud, G, Booms, P, De Paepe, A, Dietz, HC, Guo, G, Handford, PA, Judge, DP, Kielty, CM, Loeys, B, Milewicz, DM, Ney, A, Ramirez, F, Reinhardt, DP, Tiedemann, K, Whiteman, P & Godfrey, M 2006, 'The molecular genetics of Marfan syndrome and related disorders', Journal of medical genetics, vol. 43, no. 10, pp. 769-787. https://doi.org/10.1136/jmg.2005.039669
Robinson PN, Arteaga-Solis E, Baldock C, Collod-Béroud G, Booms P, De Paepe A et al. The molecular genetics of Marfan syndrome and related disorders. Journal of medical genetics. 2006 Oct 1;43(10):769-787. https://doi.org/10.1136/jmg.2005.039669
Robinson, Peter N. ; Arteaga-Solis, E. ; Baldock, C. ; Collod-Béroud, G. ; Booms, P. ; De Paepe, A. ; Dietz, H. C. ; Guo, G. ; Handford, P. A. ; Judge, D. P. ; Kielty, C. M. ; Loeys, B. ; Milewicz, D. M. ; Ney, A. ; Ramirez, F. ; Reinhardt, D. P. ; Tiedemann, K. ; Whiteman, P. ; Godfrey, Maurice. / The molecular genetics of Marfan syndrome and related disorders. In: Journal of medical genetics. 2006 ; Vol. 43, No. 10. pp. 769-787.
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