Marfan syndrome is due to mutation of:: (A) Collagen, (B) Elastin, (C) Fibrillin, (D) Fibronectin
Answer is C. Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15, which encodes Fibrillin-1. Fibrillin normally binds to TGF-b (Transforming Growth Factor) Mutated fibrillin can't bind to TGF-b. Elevated levels of TGF-b contribute to the features of Ectopia lentis, arachnodactyly, and aoic dilatation.