CFTR nonsense w-1204, nonsense w-1143

[oaktree]

Chr7: 117,267,718 G>A
Pathogenic
Zygosity: Homozygous
dbSNP ID: rs121908764
Population Allele Frequency: 0.00%
Gene Impact: CFTR NONSENSE W-1204-* NONSENSE W-1143-*
Gene Impact: AC000111.6 INTRON

Hello all,

I'm a 42 year old male and I had all kinds of problems with my lungs all my life (Pneumonia half a dozen times, Bronchitis more times than I can count, and asthma. A few months ago I ordered an Asthma Peak Flow Meter and my air flow is much worse than it should be even when I do not have any asthma symptoms.

For the past several weeks I have had Bronchitis. I didn't bother going to the doctor because this type of thing has happened so many times and the doctor doesn't really do anything. Every morning and every evening I make an attempt to cough up all the mucus I can out of my lungs and spit it into a trash can. This has been going on for weeks so I've been trying to stay in until my lungs are healed.

Over the summer I did a genetic test with 23andme and last night I paid money to have my Genes anayzed by Enlis. Turns out that I have a Pathogenic gene mutation for Cystic Fibrosis. I was skeptical because I thought it was a deadly disease and I'm 42 years old. But I read about it and I have had the following issues that could be related:
1. Almost died of double Pneumonia when I was an infant.
2. Pneumonia several times growing up. The worst was when it went undiagnosed for a long time because the doctor could not hear it. But when I got incredibly ill and had a chest X-Ray it was diagnosed then. A penicillin shot in the rear end cured it.
3. I've had elevated liver enzymes and a pale stool a couple of years ago
4. Asthma

Anyone know if it is possible to have the mutations I listed above and not have Cystic Fibrosis? Even if I don't have Cystic Fibrosis can NONSENSE mutations on the CFTR gene cause asthma, bronchitis, and pneumonia?

 

[JustaCFmom]

I don't know how to answer your question, really, but have you done a sweat test?

My daughter was PERFECTLY fine until she turned 14 and then coughed non-stop until her diagnosis a year later. She was being treated for asthma until the second pulmonologist sent us for further tests.

My kids are pancreatic "sufficient", meaning their pancreas works for now. They didn't/don't have height or weight issues.

I don't understand how you got these tests done, but I do believe in going to competent doctors. The first pulmonologist we went to is a nice guy, but we needed someone a bit more "cluey".

My advice? "Get thee to a CERTIFIED CF center"!!

My daughter's lung functions went from 75% to over 100% with the proper treatment. And she stopped coughing. Also, don't neglect your lungs! If your current doctor doesn't give your decent treatment, go to one who does!! You deserve quality treatment.

Good luck and I hope you get the answer you want here. There are many very helpful people on this site

 

[misnomar]

Hi Oaktree,
I recently found out I have these exact same mutations. I am 36 and female. I was seemingly healthy as a child and young adult. But have always had fatigue, low blood pressure, fainting spells and trouble breathing/wheezing in my lungs. I have had bronchitis several times and mild pneumonia once. I can't find much information on these mutations. They seem to be rare. I am awaiting an appointment to get a sweat test done. Have you had a diagnosis? Found any more information on these particular mutations? I would love to know. I found your thread through searching for these mutations.
Thanks