A male patient is seen for the first time by a physician; the patient has very thin, slender legs and unusually long, slender fingers. The patient's history indicates that he has been diagnosed with a connective tissue disorder known as Marfan syndrome. The mutation that causes this syndrome affects
A)tropomyosin
B)troponin
C)microfibrils
D) elastin
E) fibrillin

Question

Quizplus · Accepted Answer

Marfan syndrome is caused by a mutation in the FBN1 gene, which encodes the protein fibrillin. Fibrillin is a major component of microfibrils, which are an important structural component of connective tissues such as skin, bones, and blood vessels. The mutation causes a defect in fibrillin production, which leads to abnormal connective tissue formation and the characteristic features of Marfan syndrome.

A Male Patient Is Seen for the First Time by a Physician;