This fascinates me, personally, because I have a hypothesis that, in my case at least, there has to be something else involved besides FBN1. My grandmother has back and aorta problems, but not Marfan syndrome. Two of her brothers died of a rare cancer that began in their backs.
My Mom has some sort of autoimmune disease that’s kinda like MS & kinda like Sjogren’s, but she’s seen some of the best neurologists possible lately, and they’re all clueless as to what the underlying cause of it all is.
I’ve done informal inquiries to other Marfs about what other rare disorders are in their immediate families, and many have immeduate family members with autoimmune diseases like Lupus and MS.
Now, this study comes out from Dr. Dietz that says, as I understand it, that there’s is this one genetic factor that effects the cells’ receptors and thus cellular development. People with that factor have aortic aneurysms and some other features often associated with Marfan, but not enough to warrant Marfan syndrome. And some people with Marfan apparently have that defect, but others have it who don’t have Marfan. . . .
So it sounds like this is close to the kind of thing I’m talking about.