Surgery>>>>>Wound Healing
Question 5#

Patients with Marfan syndrome are associated with what genetic decect?

a. MFN-1 gene deletion
b. Type I collagen gene mutation
c. COL7 A 1 gene mutation
d. FBN-1 gene mutation

Correct Answer is D

Comment:

Patients with Marfan's syndrome have tall stature, arachnodactyly, lax ligaments, myopia, scoliosis, pectus excavatum, and aneurysm of the ascending aorta. Patients who suffer from this syndrome are also prone to hernias. Surgical repair of a dissecting aneurysm is difficult, as the soft connective tissue fails to hold sutures. Skin may be hyperextensible, but shows no delay in wound healing. The genetic defect associated with Marfan's syndrome is a mutation in the FBN-1 gene which encodes for fibrillin. Previously, it was thought that structural alteration of the microfibrillar system was responsible for the phenotypic changes seen with the disease. However, recent research indicates an intricate relationship that FBN-1 gene products play in TGF-β signaling.