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Genes and Inheritance in MFS

Posted By Alan Hakim, February 7, 2015

Marfan syndrome is relatively rare, buy affecting approximately 1 in every 10000-15000 people. There is usually a family history but about a quarter the cases may be the first in the family. This is because a new (‘spontaneous’) gene defect has occurred during the earliest stages of that persons’ embryonic development.

The condition has an ‘autosomal dominant’ pattern of inheritance, which means that a parent with MFS has a 50:50 chance of passing on the faulty gene to each of their children.

Although there is a gene test that can help support the diagnosis there are two very important things to be aware of:

1. The finding of a defective gene does not give any indication as to how serious the condition might be. This is because ‘expression’ of the gene (how it manifests itself clinically) varies between individuals, even in the same family. Offspring may have very mild problems and symptoms, even if a parent has a lot of problems.

2. A negative test does not completely rule out concern. This is because there are so many gene defects that the relevant one may be so rare or brand new that it cannot be found using the tests undertaken. In most cases a diagnosis of MFS will be based on a detailed physical examination and assessment of the medical and family history.

Dr Alan J Hakim, Trustee and Chief Medical Advisor

Published February 2015. Planned update January 2017.

 


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