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Genetics of Marfan Syndrome

written by: Ricky•edited by: Paul Arnold•updated: 10/31/2008

Marfan syndrome is a genetic disorder of the connective tissue and is caused by mutations in the FBN1 gene on chromosome 15. It's believed to affect 1 in 5,000 people and its most noticeable characteristics are a tall, thin physique.

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    Marfan syndrome

    The FBN1 gene is responsible for the encoding of fibrillin-1 which is a type of glycoprotein. This glycoprotein is very essential for the formation of connective tissue which extends throughout the whole body. This tissue is sometimes described as the 'glue that holds the body together.' The genetic disorder is caused by a mutation on the FBN1 gene.

    This disorder does not differentiate much between genders and is equally found in males as well as females. It also exhibits a tendency to be found anywhere in the world without any special geographical considerations. Marfan syndrome is autosomal dominant and therefore the chances of a child inheriting the genetic disorder from an affected parent is 50%. A child only needs to inherit one mutated version of the gene to be born with the condition.

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    Signs and Symptoms

    As it's connective tissue that is affected there are many areas of the body that can fall victim to this genetic disorder, for example;

    • The individual having this disorder normally grows to more than the average height he or she should have attained. Apart from the extra height the proportion of limbs is abnormal as well, and the limbs tend to be lean and extra-long.
    • Some people might experience speaking difficulties which is a result of abnormal sized palates or jaws.
    • Several eye diseases such as glaucoma, hypermetropia, myopia are caused as a result of this disorder.
    • One of the most fatal effects that this syndrome could have is the onset of various types of heart disease.
    • The disorder can also effect the lungs and central nervous system to different extents.
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    Is there a Cure?

    Once we know the symptoms of a disease the first question that pops into our minds is whether there is a cure for it? - otherwise, as some people think, it would have been better not to know about the symptoms and follow the principle of ignorance is bliss. At the present time there is no known cure for Marfan syndrome. Yet the good news is that life expectancy of patients has been increasing as drugs and treatments are available to help cope with some of the potentially life-threatening symptoms.