Topics

Non pathogenic polymorphisms
My husband was tested for 89& of the CF mutations and no pathogenic mutation was detected. However, three non pathogenic polymorphisms were detected. Why are they in the report, since they do not cause CF? What is their role?
11.12.2015
Ataluren
Is the new medication Ataluren appropriate for administration for the mutation G126D?
11.12.2015
p.Ala120Thr mutation
During the 9th week of my pregnancy I was checked for 89% of the CF mutations in the CFTR gene. The results were positive for the mutation p.Ala120Thr (c.358G>A, rs201958172). After the recommendation of my gynecologist my husband was checked for the same percentage of CF mutations in the CFTR ...
14.12.2015
CF?
Hello, my 3-year-old daughter has had several anal prolapses. She has quite some mucus in her throat up to 3 weeks after her colds. The sweat test was negative (27 nmol/l for the measurment of conductivity), regular stool elastase (over 500) and 50 mutatios in the test were negative. The mother ...
15.11.2015
Which mutation has more need for therapy?
Dear expert team, my son (4 years, CF) has the following known mutations: delF508 (inherited by me) and on the other allele R1070Q-S466X. The R1070Q is a missense mutation, the S466X is a nonsense mutation. In case of this rare combination, a marked pancreatic insufficiency has to be expected, ...
09.11.2015
Mutation update?
In the year 2003 my genotype had been confirmed to be compound-heterozygous for the mutations DF508 and 405+1G->A. At that time, about 1300 mutations were known. Today the number is about over 2000. Would it be sensibel to have a new mutation update done after 10 years? It seems to be ...
09.11.2015
Negative CFTR gene
Dear, If I have a negative CFTR gene sequencing and a negative sweat test, am I negative for Cystic Fibrosis? Although the symptoms (constipation, polyps in the nose, transparent and thick mucus in the nose?) My daughters have also symptoms (one with dwarfism and constipation, the second ...
26.10.2015
Diagnosis F508del and R1162X
Hello, my 11-months old son has been diagnosed to suffer from CF and F508del and R1162X have been detected. However, during the talk it became unfortunately not clear to me what kind of form it deals with here. Is that a rare combination? Can you make a recommendation for a CF center in ...
26.10.2015
3849+10 Kb C /F508del
Hello I wanted to know if the Guthrie test detects primarily pulmonary cystic fibrosis? Knowing that this test is sensitive to pancreatic enzymes... Thank you
28.09.2015
Hope for cure
I am a carrier of two mutations, G542X and 2183AA>G. Are there any grounds for hope for a cure in my case? If yes, what does it mean and what will change in my everyday life? If not, is there anything being done for my mutations, or are they rare and indifferent to the researchers?
19.09.2015
<<  < 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13  ...  51 >  >>