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c.274-6T>C and ΔF508

I want to get pregnant and I was tested for CF. I was found to carry the C274-6T>C mutation and the DF508 mutation, one from my father and the other from my mother. It was suggested that my husband must be tested due to the DF508 mutation. For the other mutation I was told that the data are conflicting, but, since I do not suffer from CF, my child could not suffer. What is your opinion?
Dear friend,
You carry two CF mutations, the C274-6T>C and DF508. The CF gene is very large and is comprised of 1480 aminoacids. There have been more than 2000 mutations discovered till now. Most of them cause CF, but there are others with variable clinical significance and presentation. Some mutations do not cause CF, while others are of unknown clinical importance.
A person who suffers from CF carries two (2) pathological mutations.
The C274-6T>C mutation, which you carry, is not included in the large clinical database CFTR2, where there are 89052 CF patients recorded.
There is on reference in the international literature about a child which carries the combination C274-6T>C/DF508. The child has not presented any symptoms (like you) and has a normal sweat test. The above lead to the conclusion that the C274-6T>C mutation is a polymorphism, i.e. it does not have any clinical importance. A proof for this is you.
Your husband must be tested for CF mutations, since you carry one typical CF mutation (DF508). If you husband is also a carrier of typical CF mutation, then the fetus has a 25% chance to suffer from CF.
Yours friendly,
Dr. Stavros Doudounakis