Hello,
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?
|SMAD3|rs12102171|T|CT|+/-|
|SMAD3|rs12913547|C|CC|+/+|
|SMAD3|rs1470002|G|AG|+/-|
|SMAD3|rs2118612|C|CC|+/+|
|SMAD3|rs7162912|T|GT|+/-|
|TGFB2|rs1317681|A|AG|+/-|
|TGFB2|rs6657275|G|GG|+/+|
|TGFB2|rs6662137|G|GT|+/-|
|TGFB2|rs991967|C|CC|+/+|
|TGFBR2|rs1078985|G|AG|+/-|
|TGFBR2|rs1155705|G|GG|+/+|
|TGFBR2|rs12493607|C|CC|+/+|
|TGFBR2|rs13086588|G|GT|+/-|
|TGFBR2|rs1835538|A|AG|+/-|
|TGFBR2|rs2043136|G|AG|+/-|
|TGFBR2|rs2082224|A|AG|+/-|
|TGFBR2|rs3773644|T|CT|+/-|
|TGFBR2|rs3773649|A|AG|+/-|
|TGFBR2|rs3773652|A|AG|+/-|
|TGFBR2|rs3773662|C|CT|+/-|
|TGFBR2|rs6550005|A|AG|+/-|
|TGFBR2|rs876688|A|AG|+/-|
|TGFBR2|rs995435|A|AG|+/-|
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!