Marfan syndrome is an autosomal dominant condition caused by a
genetic mutation. The mutation occurs on chromosome 15 and affects
the gene that encodes a protein called fibrillin-1. Over 100
mutations have been described, all of which impair the function of
fibrillin-1.
The precise reasons for the mutations are unknown. How the
mutation manifests as the Marfan syndrome is also uncertain. There
is mounting evidence that the fibrillin-1 defect allows for
unabated activity of transforming growth factor-beta (TGF-beta),
which causes the clinical manifestations of the syndrome (eg,
hyperextensible joints, arachnodactyly, dislocation of the lens,
aortic aneurysm).
Because the condition is inherited in an autosomal dominant
pattern, a parent with Marfan syndrome has a 50% chance of passing
the defective gene on to his/her offspring.
Some diseases are also associated with features that resemble
Marfan syndrome. For example, multiple endocrine neoplasia (MEN)
type III is associated with what's been called a marfanoid habitus
-- patients commonly have the elongated axial bones and
hyperextensible joints seen in true Marfan syndrome. MEN-III is
caused by a mutation in the RET gene on chromosome 10. It is
inherited in an autosomal dominant pattern.