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 ...
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 ...
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 ...
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 ...
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?
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 ...
Prognosis of mutation classes
Dear experts, I am always told that the prognosis for CF patients can never be predicted, that it is very different from patient to patient. It would depend on the genes and also on other factors. This is what I know - but as a parent of a CF child one is of course tortured by the insecurity if ...
CT scan of the lungs appropriate?
Hello, many thanks for your help in advance! Age: 36, male, in the frame of a genetic investigation at a center for reproductive medicine a genetic defect has been detected (before history of hypozoospermia, infertility diagnostics in case of CFTR-related disorder). Bronchial asthma, allergic ...
Suspicion of CF
Hello on your site again, Still with not that many answers to my questions regarding the diagnosis of my child who is now 15 years old. I'd like your opinion, my son is pancreatic insufficient, so he takes Creon. He had 3 sweat tests all positive, but the genetic test is negative!! He has a ...
Hello, We just received the two mutations of our daughter. The p.F508del and c.3140-26A> G (3272-26A> G) Please, what will be the common impacts of these changes even though I know it varies from one individual to another? Thank you in advance for your help and feedback.
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