Sunday, January 11, 2015

The answer is C. Marfan’s syndrome

More than 90% of patients with Marfan’s syndrome have mutations in which gene?


A. BMPR2
B. COL1A1
C. Fibrillin
D. TGFb
E. Type IV collagen

The answer is C. Marfan’s syndrome is an autosomal dominant syndrome characterized
by skeletal changes including long, thin extremities; loose joints; lens dislocation
with reduced vision; and aortic aneurysms. The incidence is high, affecting 1 in 3000–5000
live births in most racial and ethnic groups. More than 90% of Marfan’s syndrome patients
have mutations in the fibrillin-1 gene. Although Marfan’s syndrome is rarely associated
with mutations in TGFb, recent work has highlighted the close interaction between fibrillin
mutation and alterations in TGFβ signaling, offering new therapeutic potential. BMPR2
mutation is associated with heritable pulmonary arterial hypertension. COL1A1 mutation
is found in Ehlers-Danlos syndrome and osteogenesis imperfecta. Type IV collagen mutations
have been described in Alport’s syndrome.

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