Connective tissues disorders, cancer and autoimmune disease run on my maternal side. I have never heard of Loeys-Dietz Syndrome but I have quite a few mutations in my report. Is this something I could test for with a definitive answer? Does anyone share a similar profile?
Contact Gretchen at the Loeys Dietz Foundation at Johns Hopkins. She is a Genetic Councilor that runs an on line forum. They want your genes for reseach. The forum can give you detailed anwers as well. I have a de novo mutation, which means I am the only one found so far.
Mostly is is a yes or no answer. In my case, I appear to be a new mutation.
Like you, I have a quite a few hetero and one homo snp for smad3 and tgfbr1. I havent seen any geneticist to discuss yet. I am an hEDSer.
I have a lot of features of LDS & EDS. However so far my cardiac echo considered normal. No aortic root dilation.
Do have trivial mitral & tricuspid regurgitation. Recently minor calcification of mitral valve.
Recently I did Whole Genome Sequencing through Dante Labs at reasonable cost. I asked for a Connective Tissue Disorders Panel. I do have VUS for COL1A1 & TGFBR1. Hard to know what the VUS mean!