A 34-year-old member asked:
Is marfan's syndrome a genetic mutation?
2 doctor answers • 7 doctors weighed in
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.
6.3k viewsReviewed >2 years ago
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.
4.7k viewsReviewed >2 years ago
Last updated Feb 21, 2016
Connect with a U.S. board-certified doctor by text or video anytime, anywhere.
24/7 visits - just $39!
50% off with $15/month membership
Content on HealthTap (including answers) should not be used for medical advice, diagnosis, or treatment, and interactions on HealthTap do not create a doctor-patient relationship. Never disregard or delay professional medical advice in person because of anything on HealthTap. Call your doctor or 911 if you think you may have a medical emergency.