Diagnosis respectively exclusion of CF at adult age
Dear ladies and gentlemen, I suffer since 2 years without cessation from strong cough with sputum (I am non-smoker), burning and tightness in the throat, hoarseness, cramps in the thoracic cage, back pain, a feeling of pressure in the upper abdominal tract, frequent diarrhea. The cough starts ...
Heterzygous CBAVD mutation TG12-5T/TG10-9T
Hello, my daughter has the above mentioned mutation of an atypical CF, how did it happen? Many greetings, S.
hyperechogenic bowel
I am 22 weeks pregnant with my second child and during the ultrasound a hyperechogenic bowel was detected with no other indication of a chromosome anomaly. I am 33 years old and the chance for a down syndrome is 1:2500. I was tested for 90% of CF mutations and I am waiting for the results. If I am ...
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.
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 ...
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 ...
Hello, Could you give me some information about this mutation? Is it frequent worldwide? Do the homozygotes have a particular phenotype? Thank you
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 ...
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 ...
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 ...
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