Yes. Yes it is a mutation in the fbn1 gene on chromosome 15. This gene is responsible for providing the instructions for making a protien called fibrillin which becomes part of microfibrils. Microfibrils are important for providing the strength and flexibility of connective tissue. Connective tissue provides strength and flexibility to bones, ligaments, muscles, blood vessels and heart values.
Yes. Marfan syndrome is caused by a mutation in the fbn1 gene, which codes for the fibrillin 1 protein, which is a component of connective tissue. Marfan syndrome inheritance is autosomal dominant. The majority of people with marfan syndrome have an affected parent. 25% of cases are spontaneous mutations.
Www.marfan.org. Fibrillin-1 gene defect leads to inefficient connective tissue building. It is inherited 70% of time. Symptoms occur in any organ that is dependent on healthy connective tissue such as the heart, lungs, skin, eyes. Marfans are tall people with thin narrow face, scoliosis, heart disease, small jaw, spidery fingers, flat feet, abnornal chest bone. You should see your dr if you suspect having it. Read more...