A 30-year-old man presents for a routine physical examination. The patient is tall (6 ft, 5 in) and has long fingers (shown in the image). One year later, he suffers a dissecting aortic aneurysm. This patient most likely carries a mutation in a gene that encodes which of the following proteins?
Answer : A Collagen
Condition described in question is marfan syndrome
The cause of Marfan syndrome has been established as missense mutations in the gene coding for fibrillin-1.
Fibrillin is a family of connective tissue proteins analogous to the collagens.
It is widely distributed in many tissues in the form of a fiber system termed microfibrils.
For example, the deposition of elastin on microfi brillar fibers produces the concentric rings of elastin in the aortic wall.
Collagen gene mutations are found in patients with Ehlers-Danlos syndrome and osteogenesis imperfecta.
Dystrophin gene mutations are found in patients with muscular dystrophy.