Topics

MUTATION c.1680-886A>G (remainder)
Hello, Thank you for your reply on the mutation c.1680-886A> G. It is therefore a splicing mutation and not a "nonsense" mutation. However, since due to reading frameshift it leads to a stop codon, can we assume that patients with this mutation would be eligibe to ataluren (PTC124)? Thank ...
11.05.2016
MUTATION c.1680-886A>G
Hello, Could you give me information about the mutation c.1680-886A> G? Does it induce a stop-codon? Thank you in advance.
11.05.2016
Mild CF
Hello My daughter, 2 months old, has a positive genetic test with F508del and 5T abnormalities but sweat test has been negative; she has just been diagnosed as a mild form of cystic fibrosis... She will be followed in prevention every 6 months throughout her life ... Extremely rare cases ...
11.05.2016
French Registry
Hello, To a question I asked you about the mutation 3849 + 10 kb and neonatal screening you answered that 80 patients were carriers of this mutation and only 17 of them were detected by neonatal test. Were the other 63 patients false negatives because they were pancreatic sufficient? Thank you ...
11.05.2016
Neonatal Screening test
Hello, could you tell me if babies with at least one mutation 3849 + 10 Kb> C and another mutation have been diagnosed in Guthrie? Cordially
18.04.2016
Mild CF
Hello My daughter is 2 months old and had positive genetic testing (deltaF508 and 5T) but has a negative sweat test. She has just been diagnosed with cystic fibrosis borderline (moderate atypical). I wish I could learn more by finding people in the same situation and especially about the changes ...
18.04.2016
CF Screening Test
Hello, Currently pregnant 2 months and a half, I have a niece who has cystic fibrosis (my sister’s daughter) and my spouse has a cousin, a boy of his mother's sister, who is CF. I wonder if there is a chance we be carriers?
25.04.2016
Modifier genes ?
Hello, for several weeks, I hear a lot about modifier genes. Could you tell me more? How far is the research? Have they been identified?
08.04.2016
R1066H
Dear ladies and gentlemen, our son has been diagnosed to suffer from CF. It deals with the mutation R1066H, a rather seldom mutation. Do you know the clinical course and does it belong to atypical CF? Many thanks for your answer. Best regards, M.
14.03.2016
Genetic testing
I am in the 17th week of pregnancy and I was tested for 92% of the CF mutations. I received an answer saying that no pathological mutations were detected, but just the following non pathological polymorphisms: 7Τ/7Τ,p.V470M, rs213950. What are the chances for the child to have CF, bearing in mind ...
03.03.2016
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