Mutations F508del and R553X
Dear expert team, Our son has been diagnosed to suffer from CF at the beginning of January at the age of 9 weeks, after we had been admitted to hospital with a hemoglobin value of 6. The little boy became 2 blood transfusions and takes zinc tablets since then, as he also had a zinc deficiency. ...
Combination of the mutations c.650A>G and F508del
Dear expert team, In the frame of the genetic counseling the named mutations have been found in my boyfriend (F508del) and in me (c.650A>G). We are aware of the fact, that in case of family planning the probability is 25% to get a child suffering from CF. 1) Do you know anything about this ...
Transmission risk
Hello We are expecting a boy. As part of prenatal diagnosis, the father and I made blood screening for cystic fibrosis. Initially, the results came back negative (with the set of the thirty most common mutations). However, this Friday we learned I was carrying an unknown mutation of the gene ...
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 ...
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.
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 ...
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 ...
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
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 ...
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?
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