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A 34-year-old member asked:

Is marfan's syndrome a genetic mutation?

2 doctor answers7 doctors weighed in
Dr. Betty Keller
Rheumatology 35 years experience
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.
Dr. Steven Neish
Pediatric Cardiology 38 years experience
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.

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Last updated Feb 21, 2016

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