The Molecular Basis of Marfan Syndrome

Cheryl L. Maslen, Robert W. Glanville

    Research output: Contribution to journalArticlepeer-review

    22 Scopus citations


    The Marfan syndrome is an inherited, autosomal dominant disorder that affects the skeletal, ocular, and cardiovascular systems. Recent biochemical and genetic studies have demonstrated that this deadly genetic disorder arises from defects in the connective tissue protein fibrillin. Fibrillin is a component of microfibrils, structures found in the extracellular matrices of most tissues, including those affected in Marfan patients. The appearance of microfibrils in the matrix produced by Marfan patient fibroblasts is different from that of normal cells. Genetic linkage between the fibrillin gene and the Marfan phenotype has been established and the gene mapped to the same chromosomal position as the disease locus. In several instances, the disease has been associated with mutations in the fibrillin gene, confirming that defects in fibrillin cause the Marfan syndrome.

    Original languageEnglish (US)
    Pages (from-to)561-572
    Number of pages12
    JournalDNA and Cell Biology
    Issue number7
    StatePublished - Sep 1993

    ASJC Scopus subject areas

    • Molecular Biology
    • Genetics
    • Cell Biology


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