Marfan Syndrome: Understanding the FBN1 Gene Mutation

Marfan syndrome is caused by mutations in the FBN1 gene, which encodes a protein called fibrillin-1. Fibrillin-1 is a key component of the extracellular matrix, which provides structural support for cells and tissues. Mutations in the FBN1 gene can lead to defects in the synthesis and assembly of fibrillin-1, which can in turn lead to the development of Marfan syndrome.