Topics

CF chance
My wife is 22 weeks pregnant and she was checked for 90% of CF mutations and the results were that the polymorphism p.V470M (het) rs213950 was detected. What are the chances for the foetus inheriting CF or some other disease? I have not been tested for CF.
06.01.2015
IVF with ovocyte donor
We intend to proceed within the next few months to IVF with ovocyte donation. My husband was tested for 50 basic CF mutations and was found concerning the intron 8-5T/7T/9T to be a carrier of 5T/9T polymorphic tracts. The results for the other subtypes were normal (for the subtype R117H in ...
10.01.2015
Gene mutation 2896insAG
Hello, I have a question, namely my friend has the mutation 2896insAG and we do not really know what to do with this mutation. Is this a stop mutation? Do stop mutations always end with X? If yes, the first question is already answered. Can you tell me something about this mutation? The other ...
22.12.2014
L558S
Hello, Could you give me some information about this mutation? Is it frequent worldwide? Do the homozygotes have a particular phenotype? Thank you
17.12.2014
Mycobacteria
Hello, My 6 year old son just had a sputum culture that shows the presence of mycobacteria. I wished to have more information on this germ and whether my son will have this germ all the life as I gather that it is resistant to antibiotics. Also I'd like to know where is the research regarding ...
03.12.2014
L227R mutation
Hello, From a strict physiological point of view, what is the impact of the substitution of Leucine at position 227 to Arginine? Can the different physicochemical properties of those aminoacids explain the dysfunction of the CFTR protein? There is very little documentation about it. Could you ...
03.12.2014
c.4251delA
Hello, I previously posted a message to know the impact of the 4472delT mutation. Actually I got confused because my son is a carrier of this mutation on the SAMD gene, not on the CFTR gene for that he is c.4251delA homozygous. Please remove my previous question please. What would the impact of ...
03.12.2014
Mutation 1717 1G-A homozygous
Dear expert team, our son has the above mutation. Are there possibly any insights in the context of a study by Vertex or others? Which class does this mutation belong to definitively (since I’ve seen it assigned to various classes), and if it is a splice mutation, what does that mean? Your ...
25.11.2014
Staphylococcus aureus
Hello, We got to know one month after the birth of our now 3-months-old daughter that she was suffering from CF. She carries the DF508 and G3272-26A mutations. She is followed every month at the CF Center. She has every day respiratory physiotherapy and is until now pancreatic sufficient. My ...
04.11.2014
Desire to have children
Dear Sir, dear Madam, I am an 18-year-old woman. My boyfriend is almost 18 and has CF. He takes medication but has little to no complaints. We are professionally and financially both doing well and we would like to have a baby. I have two questions: I know that the chance to get pregnant ...
04.11.2014
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