Topics

Mutations R1162X/R1048G Wish to have another child
My husband and I have a four-year-old daughter who inherited our mutations and suffers from a mild form of cystic fibrosis. She has lung infections quite often and the experts cannot give us any information about the course of the disease. My husband and I would like to have a second child. The ...
26.05.2009
CF excluded but a mutation R117H
Dear ladies and gentlemen, I am 33 years old with CF, my daughter is 7 years old with CF and my son is 14 years old. To him, a CF had been excluded via potential difference/ molecular genetic / sweat test in two different hospitals. But my son ought to be affected by a not-known mutation and he ...
26.05.2009
CF - prenatal diagnostics
Is it possible to diagnose CF in an embryo or by prenatal examinations?
23.04.2009
F508del/F508del
Thank you for your reply. Here is more detailed information about diagnosis of my son. In my first question I had no documentation at hand. My son was diagnosed with CF, F508del homozygote. I would like to ask what that means. Thank you very much.
23.04.2009
Examination for Delta F508 mutation of cystic fibrosis
Is it necessary during the examination for both the man and the woman to be present, or can it be carried out seperately?
08.04.2009
VX 809 -gene therapy
My son is 6 years old and he has a cystic fibrosis - genotype Delta F 508 in both allels. When we can to expect the gene therapy of product VX 809 in Europe as part of necessary medical therapy?
07.04.2009
Carriers CF
I have CF and my daughters are carriers. Now I have read that in America injections are being given to carriers so that they can’t become sick and they can’t give the disease to other people. Now this seems a major breakthrough and would certainly prevent lots of CF. It seems however unlikely. ...
07.04.2009
R1048G mutation
My husband is a heterozygous carrier of R1048G, I am a heterozygous carrier of R1162X; my 4-year-old daughter has a mild form of CF, which, however, seems to be attributable to my husband’s genes. What information is available about R1048G so far?
24.03.2009
PTC 124 / Vertex VX-809
My son has the following mutations: 1717 1g --> A (class I mutation) as well as s549R (class II mutation). “1717 1g --> a” is a class I mutation. More precisely, it is a splice site mutation which, however, triggers a stop codon. Is PTC 124 effective with this kind of mutation? The ...
24.03.2009
CF with two nonsense mutations
Hello, our son (5 weeks old) was born with meconium ileus and suffers from exocrine pancreatic insufficiency, which is being treated with pancreatin. By now, it is clear that he has CF. The genetic test showed a compound heterozygosity with nonsense mutation in exons 6 and 11 (heterozygous ...
02.03.2009
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