Topics

Spontaneous mutations
Hello, As I said before, our daughter has been diagnosed with atypical cystic fibrosis (CF). Following this diagnosis, we did a gene test and it turned out that only one of us is a gene carrier. My questions: how frequently do spontaneous mutations occur? The human genetics laboratory ...
07.09.2010
Ν1303 mutation
I am a carrier of the N1303 mutation and my wife the S912X, which is considered an extremely rare mutation. My wife is at her 6th month of pregnancy, and we have been told that the fetus carries both the CF genes and has CF. We have searched and are fully aware of the situation. Can anybody tell us ...
11.11.2010
Germ colonization with atypical cystic fibrosis
Hello, is the probability of germ colonization as high in atypical cystic fibrosis (R553x and IVS8-5T-TG12 mutations) as in typical cystic fibrosis? Many thanks. Kind regards C.M.
06.09.2010
Progression with R553x/IVS8-5T-TG12 mutations
Hello, My daughter has been diagnosed with atypical cystic fibrosis. What does that mean? Do you possibly have any experience with the mutations mentioned above? Many thanks C.M.
06.09.2010
R553x/IVS8-5T-TG12 mutations
Hello, my 5-year-old daughter was diagnosed with cystic fibrosis two weeks ago. Sweat test was negative, but the paediatrician ordered a gene test, which showed that she has the R553x/IVS8-5T-TG12 mutations. This is supposed to be an atypical cystic fibrosis. What does that mean, and how does ...
06.09.2010
CF in Asian countries
My child has lung problems that seem like CF. After screening for 34 mutations he seems to have one common CF mutation. Specific tests to look for other mutations and a nasal potential measurement are ongoing. Her father comes from Indonesia and I wonder whether Asian people carry other mutations ...
16.06.2010
Mutations, do I have CF now?
Dear expert team, could you please explain the following mutations to me? Result and interpretation: I have in the exon 21 of the CFTR gene the mutation p.Asn1303lle (c.3908A>T, traditional writing 4040A>T) heterozygously. The clinical meaning of this change is not clearly described. ...
21.04.2010
CF: Mutation of chloride channel?
Dear Sir or Madam, During a test in the subject „clinical pharmacy“ the following statement was made: “In CF there is a mutation of the chloride channel.” One should consider if this statement is correct. In my opinion it is wrong (...). What do you think? Best regards M. ...
16.04.2010
genetics
In my 5-month-old daughter CF was diagnosed and mutations 3849+10kbC>T/2143delT were detected. I can't find any information about the second mutation. So far my daughter has no symptoms. On the basis of these mutations, can one predict the course of the disease: mild or severe?
14.04.2010
DNA
How many DNA variants are examined when CF is suspected?
23.03.2010
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