Marfan syndrome

Causes

What genetic change causes Marfan syndrome?

Marfan syndrome is caused by genetic changes (called mutations) within a gene called FBN1. Over 1300 mutations within this gene have been found to cause Marfan syndrome. It is estimated that as high as 25% of Marfan syndrome is caused by a de novo mutation, which means that the mutation was not inherited from a parent, and instead came about as a spontaneous, random change that happened around the time that individual was conceived.

References
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What happens because of the FBN1 gene change?

Does anything make Marfan syndrome worse?

Can you have Marfan syndrome without a gene mutation?

What happens because of the FBN1 gene change?

The FBN1 gene makes a protein called fibrilin-1, which is important for connective tissue. Changes (mutations) to the FBN1 gene can interrupt the production or function of the fibrillin-1 protein. Sometimes no protein is made and other times fibrillin-1 protein is made but the structure has been altered. The body needs fibrillin-1 protein to make microfibrils. Microfibrils allow the skin, blood vessels, and ligaments to stretch and they also give elasticity to many organs. When fibrillin-1 is not made or is made incorrectly, microfibrils are impaired.

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Does anything make Marfan syndrome worse?

Any co-existing condition that places additional strain on the heart, the eyes, the skeletal system, or the nervous system can worsen the symptoms Marfan syndrome. In addition, individuals with this syndrome should avoid high impact sports as that can increase the risk for heart issues (such as weakening of the aorta, the main artery that brings blood from the heart to the body), eye issues (such as retinal detachment), and joint problems (such as chronic pain).

References
  • The Marfan Foundation. (2018, September 21). How is the body affected? Retrieved from http://www.marfan.org/about/body-systems.
  • Dietz, H. (2017, October 12). Marfan Syndrome. Retrieved from http://www.ncbi.nlm.nih.gov/books/NBK1335/
Can you have Marfan syndrome without a gene mutation?

It is possible to have a mutation in the FBN1 gene and not have Marfan syndrome. There are some genetic changes in our bodies that are considered benign and do not affect the way that proteins are formed. Benign changes in the FBN1 gene will not lead to a diagnosis of Marfan syndrome. Additionally, it is possible to have a clinical diagnosis of Marfan syndrome without having a pathogenic FBN1 mutation if you meet the Ghent criteria that is necessary to have a clinical diagnosis.

References

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