The Marfan syndrome is an inherited, autosomal dominant disorder that
affects the skeletal, ocular, and cardiovascular systems. Recent bioch
emical and genetic studies have demonstrated that this deadly genetic
disorder arises from defects in the connective tissue protein fibrilli
n. Fibrillin is a component of microfibrils, structures found in the e
xtracellular matrices of most tissues, including those affected in Mar
fan patients. The appearance of microfibrils in the matrix produced by
Marfan patient fibroblasts is different from that of normal cells. Ge
netic 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 assoc
iated with mutations in the fibrillin gene, confirming that defects in
fibrillin cause the Marfan syndrome.