Ehlers-Danlos syndrome

Hello :slight_smile: I’m new here and not sure how to interpret my results for EDS. It appears that I have just about every type of EDS when I run multiple templates. How do I get it interpreted correctly? My results are–
COL5A1- homo
COL6A3- homo
PLOD3- homo
PLOD1- hetero
COL2A1- hetero
TGFB1- hetero
COL1A1- hetero
COL1A2- hetero
THXB- homo

I have a clinical diagnosis of EDS, suspected Classical. Any further info is appreciated.

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I have mutations in those genes as well, but I don’t think I have EDS (at least not in a visible way), if I do, it’s mild or maybe counteracted by my Psoriatic Arthritis since it has caused some of my connective tissue to stiffen/harden. But having this information could be really helpful since I can talk to my doctors about testing and monitoring in case I do have it or it manifests.

I’ll start with some important terminology and definitions that are vital to understanding what all of this stuff means, it’s kinda dry, but I’ll try to condense it as much as I can and make it understandable, definitely cut out some time to read this. So, genes are a specific section of DNA in a specific chromosome that codes for a specific function, genes can be really short to really long, meaning the amount of information each gene carries is different. DNA :dna: has this double helix structure, meaning there’s a nucleotide (an A C T or G) on one side that will pair up with a nucleotide on the other side creating a “base pair,” which is what we see when we are looking at the results of a specific “rsID” on the table (they look like AA, CC, TT, GG, AG, AC, GT, etc). The human genome (all of our genetic DNA) has around 3 billion “base pairs” which forms our DNA and are crammed into our Chromosomes, but there’s very little variation, in fact 99.5% of our DNA is the same as every other human. The other .5% is going to vary widely in how similar you are to someone else depending on how related you are to the person you are to them. These variations are called an “SNP” and are what happen when for example your AA turns into something like AAA/A/AC/CC, either you have a nucleotide added, deleted, or changed, making your base pair different than what it typically is. Humans have around 10 million of these variations and can end up doing nothing, which is typically the case, but they can end up doing something notable, anything from giving you the ability to curl your tongue into a taco shape to giving you EDS. The genetic tests we have done are called genotyping, and this means that a genotype is observed which makes a certain trait determined by the makeup of “alleles,” which refers to the form of a gene that produces different effects. A Genotype is the information contained within two alleles, it’s the genetic makeup of an organism (us) and it can be expressed visually (a phenotype) but it does not have to. To conclude (finally, sorry), on our variance reports: the column listed as “SNP” are actually genes that can become SNPs if your “rsID” (a specific sequence in the gene) has a minor allele that is expressed in your genotype and making that base pair either heterozygous (+/-) or homozygous (+/+). It is important to note that even if you have a variation(s) in alleles within a gene connected to the trait, you can happen to not have the disease manifest for plenty of reasons, but in EDS, that would likely be because it’s a recessive trait (you need both allele mutations to have manifestation but you’re heterozygous), it’s not an allele mutation in the gene that causes the disease, you may need multiple allele mutations, or your body just somehow corrected/counteracted the mutation.

Feel free to ask for clarification on anything, that was a lot and I could have missed something that you’d catch! I am currently looking for the specific alleles that do cause the disease, so I don’t have answers on that end just yet.