The gene that the mutation occurs in is the FBN1 gene. Which provides instructions for making the fibrilin-1 protein.
Marfan Syndrome was discovered in 1896 by French doctor Antoine Marfan. The incidence rate of Marfan Syndrome is 1/5000 people in the United and States, and 1/5000 people in the world. It affects all people and ethnicites.
Symptoms can include: Dilation of the aorta, leakage of the aortic valve, tears in the aorta, deformities of the breastbone, scoliosis, misalignment of certain bones, joint contractures, unusual arm span, long fingers and toes, and dislocation of the lens (the transparent structure inside the eye that focuses light rays onto the retina. Marfan Syndrome is diagnosed through electrocardiograms, echocardiography, a complete eye examination, X-rays, or through DNA studies.
There is no current cure for Marfan Syndrome. Treatment is based off of what organ system is affected. Recomendations fro manageing Marfan Syndrome are an annual echocardiogram, a periodic eye examination, and lifestyle adjustments.
The genetic pattern of inheritance for Marfan Syndrome is autosomal dominant. Without proper treatment or management, a person with Marfan Syndrome is expected to live to be 45 years old, but with proper treatment and managemnet, a person is expected to live a happy and normal life.
Current research being conducted for people with Marfan Syndrome is being conducted by the Marfan Foundation in which they are funding a proposal that will identify fibrillin-1 (FBN-1) and fibrillin-2 (FBN-2) rare genetic variants that play an important role in severe isolated scoliosis and whether or not the transforming growth factor-b pathway is involved in scoliosis development.
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