Genetic fibrillinopathies: new insights in molecular diagnosis and clinical management.

The Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with a prevalence of 2-3 per 10,000 individuals and symptoms ranging from skeletal overgrowth, cutaneous striae to ectopia lentis and aortic dilatation leading to dissection. Mutation in the gene for fibrillin-1 (FBN1) cause MFS and other related disorders of connective tissue, grouped as fibrillinopathies. Fibrillin-1 is the main constituent of extracellular microfibrils. Microfibrils can exist as individual structures or associate with elastin to form elastic fibers. This article provides an overview of the current diagnostic criteria and medical management, estimates the role of fibrillin-1 mutation analysis, sheds new light on genotype-phenotype correlations and summarizes new insights on the pathogenesis of this disorder based on mouse models.