FBN1 gene mutation

An FBN1 gene mutation is a genetic alteration in the fibrillin-1 gene, which encodes a critical protein for connective tissue integrity and elasticity. This mutation disrupts the structural framework of connective tissues, leading to weakened vessel walls and skeletal abnormalities. It is most notably associated with Marfan syndrome, a disorder that increases the risk of life-threatening aortic aneurysms and dissections.