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Human genetics

Question
Hello,
I, my husband and my daughter have been investigated for Del F 508 , Del I 507, Del TA 1677 , Del 21 kb. In my husband and my daughter (4 yrs) Del F508 have been found, nothing has been found in me. How does this influence the prognosis and further therapy? How necessary and sensible is it, that I and my daughter get investigated for further Del mutations? Many thanks!
Answer
Dear questioner,
at first: I assume that your daughter has a clinically proven CF with an unambigous diagnosis? If yes, you can read this answer further.
--> yes, clear diagnosis of CF has been made in your 4-year-old daughter by a CF-specialist:
F508del-CFTR is a classical CF mutation, that causes CF only together wir another not-functioning CFTR-gen and only in this case. Now you know one of two mutations that have to be found for the genetic diagnosis of CF - your mutation (thus the maternal mutation in your family) has not been found yet with the available genetic testing. For the prognosis and in times of possible molecular therapeutics for specific CF mutations, the kind of the second genetic defect is very important. For example there are drugs, that help only in case of the mutation G551D. You can get a profound genetic analysis at a human geneticist. The standard diagostics comprises about 30 well-known defects of the CFTR-gene and not only the four ones that you mentioned. Here, it is also improtant for the prognosis and therapy if those 30 well-known mutations have been tested.
With my best wishes for you and your family,
Frauke Stanke
28.01.2016