Fibrillin mutations in Marfan syndrome and related phenotypes

Francesco Ramirez

    Research output: Contribution to journalArticlepeer-review

    107 Scopus citations

    Abstract

    A casual association has been established between mutations in the fibrillin 1 gene and Marfan syndrome and related phenotypes. Analysis of mutations in these disease types has provided new insights into microfibril assembly and function. These include evidence for a mutation in a fibrillin 1 domain associated with the severe phenotype; indication of profibrillin processing by a furin-like endoprotease; linkage between extracellular processing and fibrillin 1 polymerization; and involvement of calcium binding in monomer stabilization and microfibril assembly. Identification of intragenic DNA polymorphisms and determination of intron/exon junction sequences have significantly improved our ability to diagnose Marfan syndrome and to detect fibrillin 1 mutations. Additional work has provided strong evidence for structural and functional heterogeneity of microfibrils. The evidence includes the identification of fibrillin 2, a microfibrillar component structurally related to fibrillin 1; the differential pattern of gene expression of the two fibrillins; and the association of fibrillin 2 mutations with congenital contractural arachnodactyly.

    Original languageEnglish
    Pages (from-to)309-315
    Number of pages7
    JournalCurrent Opinion in Genetics and Development
    Volume6
    Issue number3
    DOIs
    StatePublished - Jun 1996

    Fingerprint

    Dive into the research topics of 'Fibrillin mutations in Marfan syndrome and related phenotypes'. Together they form a unique fingerprint.

    Cite this