marfan syndrome

[strdsbrg]

I suspect I may have Marfans based on a number of its symptoms.  I've read that older father's are more likely to have new mutations of the fibrillin gene appear in chromosome 15, which is the cause of Marfans.  My father was 49 when I was born but I suspect, based on some of my mother's characteristics and the appearance of some of my relatives of my mother's side of the family, that I may have inherited Marfan's from her.  My question is whether the "older father" theory means that my father was the one passing the down the gene or whether it is just more likely the gene would be passed down to me because I have an older father even though the gene being passed is from my mother.  

Also, is it important to have this officially diagnosed if I am aware of and am monitoring and treating the serious symptoms (aortic root dilatation, sleep apnea and early emphysema)?  Thanks for your help.

[Lisa Kessler, MS, CGC]

In contrast, sometimes someone is the first person in the family to be diagnosed with Marfan syndrome.  In this scenario, the person has Marfan syndrome as a result of a “new mutation” in the FBN1 gene.  There is evidence that older fathers have an increased risk to have children with specific conditions including Marfan syndrome.  This risk has to do with an increased chance to develop a new mutation in the sperm.  Without a complete exam and through pedigree (medical family history), it is not possible to determine a diagnosis of Marfan syndrome or from which side of the family it is coming from.  If someone has Marfan syndrome (without other family history of Marfan syndrome) as the result of a new mutation from an older father, then the father is the likely source of the mutation.  

It is important to have a complete exam specific for Marfan syndrome to completely rule out or diagnose the condition.   A medical geneticist would be the appropriate type of physician to perform a complete exam.  You can find a medical geneticist through the American College of Medical Genetics.