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, ...
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 ...
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 ...
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 ...
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
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?
Prenatal diagnosis
Hello, We have a 5 year-old daughter who was diagnosed with cystic fibrosis at the age of 4 months. Since this day we have been in safe hands in terms of medical and physiotherapeutic care. Our daughter is fine, till today she has not had any evidence of problematic germs. We have our ...
Genotype 7T/7T
My husband was tested for mutations in the CFTR gene, and in the results it writes: “ the genotype 7T/7T was detected in the sample in relation to the polymorphic region of the CFTR gene”. Does the above mean that my husband is a carrier of the disease? The reason for him being tested was ...
I was checked for >98% of CF mutations and I was found to carry the DF508 one. I am pregnant, therefor my husband was checked as well. If the results are negative, then the fetus has a 50% chance to be a carrier? If my husband is found to carry the same gene, then there is a 25% chance for the ...
Treatment for CF
Is there a treatment/cure for a person with the mutations DF508 & 621+1G>T?
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