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FBN1 encodes a protein called fibrillin, which is essential for the formation of elastic fibers found in the connective tissue. Without structural support provided by fibrillin, many tissues are weakened which can have severe consequences (i.e. ruptures in the walls of major arteries).
Marfan’s syndrome affects men, women and children, and has been found among people of all races and ethnic backgrounds. It is estimated that at least one in five thousand people in the United States have this disorder. To inherit the disorder, the child only needs to inherit one copy of the marfan mutation to develop the syndrome, because the mutation is dominant...
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