FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders

Lynn Sakai, Douglas R. Keene, Marjolijn Renard, Julie De Backer

Research output: Contribution to journalReview article

44 Citations (Scopus)

Abstract

FBN1 encodes the gene for fibrillin-1, a structural macromolecule that polymerizes into microfibrils. Fibrillin microfibrils are morphologically distinctive fibrils, present in all connective tissues and assembled into tissue-specific architectural frameworks. FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection. More than one thousand individual mutations in FBN1 are associated with Marfan syndrome, making genotype–phenotype correlations difficult. Moreover, mutations in specific regions of FBN1 can result in the opposite features of short stature and brachydactyly characteristic of Weill–Marchesani syndrome and other acromelic dysplasias. How can mutations in one molecule result in disparate clinical syndromes? Current concepts of the fibrillinopathies require an appreciation of tissue-specific fibrillin microfibril microenvironments and the collaborative relationship between the structures of fibrillin microfibril networks and biological functions such as regulation of growth factor signaling.

Original languageEnglish (US)
Pages (from-to)279-291
Number of pages13
JournalGene
Volume592
Issue number1
DOIs
StatePublished - Oct 10 2016

Fingerprint

Microfibrils
Marfan Syndrome
Inborn Genetic Diseases
Connective Tissue
Mutation
Genes
Arachnodactyly
Ectopia Lentis
Brachydactyly
Thoracic Aortic Aneurysm
Dissection
Intercellular Signaling Peptides and Proteins
Fibrillins

Keywords

  • FBN1
  • Fibrillin
  • Fibrillinopathies
  • Marfan syndrome
  • Microenvironment
  • Thoracic aortic aneurysm
  • Weill–Marchesani syndrome

ASJC Scopus subject areas

  • Genetics

Cite this

FBN1 : The disease-causing gene for Marfan syndrome and other genetic disorders. / Sakai, Lynn; Keene, Douglas R.; Renard, Marjolijn; De Backer, Julie.

In: Gene, Vol. 592, No. 1, 10.10.2016, p. 279-291.

Research output: Contribution to journalReview article

Sakai, Lynn ; Keene, Douglas R. ; Renard, Marjolijn ; De Backer, Julie. / FBN1 : The disease-causing gene for Marfan syndrome and other genetic disorders. In: Gene. 2016 ; Vol. 592, No. 1. pp. 279-291.
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