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Topics
- Genotype F508del/174del A/K14X
- Hello, we just got the diagnose of CF in my 2-year-old son, just a few days ago with the above mentioned mutations. What does the mutation really mean? Is that a mild or a severe mutation? Is it rare? Unfortunately I cannot find anything online. Many thanks in advance.
- 16.01.2017
- Genetics
- Hello, if a complete sequencing of the gene had been done 4 to 5 years ago, however the symptoms persist (mucus, colonization, pancreatic insufficieny, normal sweat test), does it make sense to have a new genetic investigation done after these years? Many thanks!
- 07.11.2016
- Sweat test and diagnostic algorithm
- Dear expert team, I have read the legal disclaimer and hope my question is possible. I do not want to get a diagnosis of course, however I am looking for further, additional expert opinions. Our son, 6 years old, is at the moment investigated for CF. This was because I had been on rehabilitation ...
- 07.11.2016
- Mutation c.3718-3T>G and deletion of exon 16 to exon 20 heterozygous found
- Hello dear experts, my daughter (today 12 weeks old) has been diagnosed to suffer from CF after she had a sweat test at the age of 5 weeks. A molecular genetic investigation had been done. Via this investigation, a heterozygous c.3718-3T>G-mutation in combination with a heterozygous ...
- 29.07.2016
- 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. ...
- 24.06.2016
- 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 ...
- 04.06.2016
- 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 ...
- 13.05.2016
- 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