g1069r

emason

New member
I have spent countless hours trying to find anyone with the mutation g1069r. I'm really not expecting that anyone will respond because it just seems to be incredibly rare but figured I'd post anyways just in case. I've found some mention of the mutation in a few studies and listed on some patent requests - but I'm just curious if anyone out there has any experience with this mutation. My 9 month old has one copy of df508 and one g1069r which is currently categorized as a mutation of varying consequence in the CFTR database. He has a CRMS dx currently - but I'd love to find out more!
 
L

lauryn.tubes

Guest
Hi Emason -

My daughter doesn't have g1069r but she has f1052v and df508. Like your child there's only 5 people in the CFTR database with her combo and only 12 documented with f1052v! It's extremely frustrating (especially if you're a type A mother like myself).

Anyway...I found a medical journal that taught me A LOT about f1052v. Granted, I had to read it about 5 times to really understand what it was saying. I went and checked and your child's mutation is in there too. My understanding (and this is a basic one) is that the mutation allows for the protein to be made...but the "door" that allows the protein to make it out to the surface is irregular. The "door" is closed too often, or when it is open, its for a very short time.

Anyway - I urge you to read it if you haven't already. It really helped me gain an understanding of what's going on and what may be ahead.

http://www.jbc.org/content/271/25/15139.full?sid=614710bc-1151-454b-875f-a04a9a0e2a14
 

emason

New member
Thank you for your reply! I've come across that journal but I think I'm going to have to reread it a few more times too. Had I known that we would be in this position I'd have paid much better attention in all of my science classes lol.

One thing that really confuses me about g1069r is that while the average sweat test result listed in the cftr database is very low (40s for someone with my sons combo), it is likely to cause pancreatic insufficiency - of the 4 with his combo, 3 are PI. Every other mutation of varying consequence I've seen is likely to result in PS.

I can't seem to figure out what makes his combo different - and since the database only includes people diagnosed as CF (and not those diagnosed CRMS) I don't know if there are many others in our situation where PI doesn't happen. I really wish there was more information available about those diagnosed CRMS. I'm sure you feel the same!
 
L

lauryn.tubes

Guest
Hi emason -

The PI surprises me. But, my pulmunologist explained this to me (I believe this is general terms)

Someone with 0-5% CFTR function is PI
Someone with 50% CFTR function is fine (pancreatic and lung wise) because this is a carrier

The realm of 6%-49% is where the vast majority of the CRMS/A-typical CF people lie. I did meet another mother on here, who's son has F1052V. His other mutation is another Class IV so he should have mild/atypical CF per everyone's understanding. However, he is PI and has classic CF and his sweat tests have all been in the teens and very negative.

CRMS is a hard place to be. Just this morning my daughter started to cough again. Scares the crap out of me every time. Feel free to message or email me if you have any more questions. Our children's mutations aren't the same - but they're very similar at the least :)
 
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