7 doctors weighed in:
Is marfan's syndrome a genetic mutation?
7 doctors weighed in

Dr. Betty Keller
Internal Medicine - Rheumatology
4 doctors agree
In brief: 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.

In brief: 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. Betty Keller
Dr. Betty Keller
Thank
Dr. Steven Neish
Pediatrics - Cardiology
1 doctor agrees
In brief: 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.

In brief: 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.
Dr. Steven Neish
Dr. Steven Neish
Thank
Get help from a real doctor now
Dr. Warren Strudwick
Board Certified, Sports Medicine
26 years in practice
490K people helped
Continue
108,000 doctors available
Read more answers from doctors