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Question
Dear all,
My son is 11years old.CF del F 508/525del T. (on exon 4). What is the prognose for this combination of genas?Hlor in sweat is 65.We leave in small country Montenegro on the Balkan and we don't have big medical centar for CF,so your answer will help us a lot...Thank you!
Answer
Dear Sir
Sweat chloride concentrations of 65 indicate cystic fibrosis however is not useful in making a prognosis. F508del is a class II mutation. Whilst 525delT (on exon 4) causes a frame shift. The prognosis for this combination of mutations is not known and it is important to note that making a prognosis based only on genotype is very difficult. People with the same two copies of the mutated CFTR gene may experience very different symptoms

I apologise I cannot be any more specific than this
Regards and best wishes
Stuart Elborn
02.03.2011
The answer is edited by: Prof Stuart Elborn