Here is an interesting Article about the genetics in ES:
Morrison, P., Morrison, R. J., & McKinstry, C. S. (2014). Familial ossification of the stylohyoid ligament in a three generation family–a new clinical entity displaying autosomal dominant inheritance. British Journal of Radiology, 85(1012), 458-459.
Ive been very curious about this one myself and wondered about the genetic implications since myself and kids all have some expression of Ehlers-Danlos. I would be curious what percentage of these family members in this study may have TMJ or other jaw related expressions? One of my daughters has jaw issues and had 2 rounds of braces and expanders at a young age. Just had a cone beam CT of her jaw and now have a baseline of her styloids. The technician went over them with me as I requested he zoom into the styloids. I educated him about eagles.
I wish there were more studies on Eagles…
I’m curious about this too and already made an appointment at an genetic doctor for next month. Maybe she can tell me more about that but I don’t expect much to be honest since it is ES.
If you might think of general questions of interest I should ask, you can write them here and I’ll try my best.
Well I have often thought about getting full genome sequencing as the prices have come down however translating the findings is a problem and then what to do about it. I had a friend that used to work with the Human Genome Project and she suggested it. I’m keeping my on eye on CRISPR technology as I think that is where the fixes will come in. I’m particularly watchful because of my daughter’s POTS is disabling her and she has no life.
My daughter, son and I saw a geneticist re: ehlers danlos. He did some targeting genome sequencing which showed positive up in the Marfan’s arena however nothing definitive and really no answers to act on. I personally am very fascinated in genetics and epogentics. A good geneticist has access to databases that can start to tie things together.
This study points towards “COL6A1 gene polymorphisms have been associated, although no definitive genes have been identified”
My suggestion would be to contact the authors of this study in Belfast and see what they have put together since this was done in 2010-2011. They would likely know what if any other studies are out there on this?
Thanks again, a really interesting article! I have an identical twin, she has no ES symptoms, always wondered if she has long styloids though!
We’ve had several members with ES who have one or more children who also have ES so there definitely seems to be a hereditary component in some cases. How great that there is now a study that is finding a genetic link to ES.