Topics

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
CF test for only one parent
Hello, I would like to know the impact on my 5-year and 6-months-old daughter’s health who was F508del homozygous diagnosed in 2011. Regarding that only her mother has made genetic testing (her father did not wish to do), could you give me some information about it and whether it will affect ...
04.11.2014
Mutation delta f508/2789+5g a
My daughter has an atypical form of CF with the mutations delta F508 / 2789+5G>A. Do you have any experience with the mutation? What does atypical mean?
03.11.2014
R1162X and Q1035X
Hello dear expert team, recently, the mutations R1162X and Q1035X have been detected in my genetic material. Could you please answer the following questions about this combination: - Is there a prognosis concerning the course of the illness? - How is the frequency of both mutations ...
03.11.2014
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