Anyone with 1585-1G>A or 3140-26A>G? Uncommon variant

Dumpling8

New member
Any one with 1585-1G>A (legacy code 1717-1G>A) and/or 3140-26A>G ( heterozygous) ?

I am over 50yr old. CFer.
Hi Late Traveller,

I have DF508 and 1717-1G-Aa. I am 34 F, good overall health, work HARD at it! About to start Trikafta and beyond excited! What do you mean by legacy code? Is 1585-1G>A a new name for 1717 or is it that they are related? Is your other mutation DF508? Would be interested in hearing about your experience since it is rare to come across someone with this same combination!

Best wishes :)
 

Dumpling8

New member
My son's mutations are df508 and 1717-1G>A. He's 4 yrs old.
Hi Tnjackson2!
I have the same combination as your son! I am 34, female, and have enjoyed great health most of my life. Some tough experiences here and there but honestly nothing too bad. And now is the most exciting time ever in "CF history"! I would say you should feel very optimistic for your little guy!
If you don't mind me asking, how is he doing? And, again, if you don't mind the intrusion, what is his ethnic background? I am curious because I got the 1717-1G-A gene form my dad and he is adopted and does not know his biological parents' origins. I came across a paper once citing three individuals with this mutation in Italy...so maybe common in central Europe?
Wish you and your little guy the best!
 
Top