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Strawberrybee

550d

Hello, I got genetic testing recently and I came back with col11a1, fbn2 and LOX mutation. I was wanting to know if anyone else had a LOX mutation and wants to talk? This is a newly discovered mutation so I’m not sure how many people have it? There is almost no info on the internet about it and I have symptoms similar to classic/ classic like and am wondering if anyone with this mutation has these symptoms, and if this is possible a new gene that is causing ehlers danlos, and or a new type of ehlers danlos causing gene and I would like to get in contact with people who have this gene. My doctors are very confused by my symptoms, I am diagnosed hEDS but my symptoms don’t match up exactly. Please reach out if you have it, or if you know any info about LOX gene thank you so much.

Top reply
    • anemone

      484d

      FLNB, MICAL1, and TRPV4 mutations. all of unknown significance. according to the results page none of it seems especially relevant to my joint problems, either, and only TRPV4 "is expected to disrupt protein function" so while that could affect collagen the results also say it's a change detected in CMT, and i have some symptoms of neuropathy and tests concurrent with it so i guess that's possible. my ana results are making me wonder if the joint stuff really is some unknown autoimmune condition, though. i'll update again once i have my appt with the geneticist tuesday

    • anemone

      484d

      FLNB, MICAL1, and TRPV4 mutations. all of unknown significance. according to the results page none of it seems especially relevant to my joint problems, either, and only TRPV4 "is expected to disrupt protein function" so while that could affect collagen the results also say it's a change detected in CMT, and i have some symptoms of neuropathy and tests concurrent with it so i guess that's possible. my ana results are making me wonder if the joint stuff really is some unknown autoimmune condition, though. i'll update again once i have my appt with the geneticist tuesday

    • Happyfeet007

      550d

      I’ll get my results back at the end of the month. Also recently diagnosed hEDS without a perfect symptom match

      • Happyfeet007

        496d

        @Happyfeet007 I ended up with an FLNA gene mutation which is also fairly rare, and causes EDS like symptoms.

    • anemone

      550d

      i haven't made it in to a geneticist yet but i should be in the next few months, so i'll try and remember to get back in touch then. it'll be interesting if they find that same mutation! i also have some symptoms similar to classic/don't fully match but have a preliminary heds dx.

      • anemone

        505d

        @anemone hey wanted to drop that i've seen a geneticist now, he says he doesn't think i have heds but might have another condition? i should get my test results in a week or two so i'll update again then, and i'll have another geneticist appointment a couple months from now... so my results may not be as relevant, but i'll share anyway just in case. i'm honestly... really scared i'll get back another inconclusive or "healthy" result. makes me worry it really is just in my head, and it's really frustrating getting all sorts of weird results but still being told nothing is wrong.

☝ This content is generated by our users and it is not a substitute for professional medical advice. Please consult with your physician before making any medical decision

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