I have one nonsense mutation that produces no protein and ends with an X.I would love to hear from pancreatic sufficient people with cf or those who have a pancreatic sufficient child with cf. Is anyone else pancreatic sufficient with a class 1 and 2 mutation?
My son is 3 with the df508 mutation and a class 1 mutation (2184insA). I know there aren’t many people who are sufficient, but I was looking to see if there was anyone I could possibly connect with that had a child who is also ps with a class 1 mutation and the df508 mutation. Besides an elevated sweat chloride, my son has never had any other symptoms. He’s never had cf bacteria either.Asmith62,
It would be surprising to me if many/any people with one Class 1 and one Class 2 mutations are pancreatic sufficient.
Class 1 mutations do not produce any CFTR protein.
Class 2 mutations, create faulty CFTR protein that can't reach the cell wall.
Mutations of other classes are usually "residual function" mutations where some of the CFTR protein can function. Many of the people with at leas one mutation in these classes are pancreatic sufficient.
It does surprise me that people who are involved with CF are not interested in determining what class their mutations are. Googling "cf mutation classes" will bring up many sites that have good descriptions of the mutation classes. The site to start with is probably:
Here all the CF mutations are listed with descriptions and data on each.
Some other good sites with simplified class descriptions are:
Note: R117H referenced above is a Class 4 Residual Function mutation. It's not surprising that someone with one on mutation like this would be diagnosed later in life and be Pancreatic Sufficient. I fall into that category.
He’s also pancreatic sufficient. Over 500My son is 3 with the df508 mutation and a class 1 mutation (2184insA). I know there aren’t many people who are sufficient, but I was looking to see if there was anyone I could possibly connect with that had a child who is also ps with a class 1 mutation and the df508 mutation. Besides an elevated sweat chloride, my son has never had any other symptoms. He’s never had cf bacteria either.
Do you have a class 1 mutation well? Are you or were you pancreatic sufficient?For me, it wasn’t a lack of interest in determining what cf mutations I am. I was diagnosed 4 years ago (and had zero symptoms until 5 yrs ago) and this is the first time I’ve heard that there were mutations.
Thanks for the links. I find it all very interesting.
My son has cf and has 2184insA/df508. He is 3 now and hasn’t had any symptoms except an elevated sweat chloride. He’s still pancreatic sufficient. How is your child doing?Hi
I am from MOROCCO. My little baby is class I/class II mutations and she is PS till now.
She is 9 months.
Diagnosed at her birth thanks to Guthrie test. She is F508delta/2185insA.
Early colonization with PSA during her hospitalization (preterm baby) but She gets antibiotics-inhaled ones and her last analysis are good - no more PSA.
She is now in Intensive Cares because of a severe bronchiolitis RSV. She is still needing oxygen but she is improving.
Please tell me your symptoms if you have the same mutations