CF mutation

Question

Hello,

I wonder if the CF mutation 3417 from A to T, can cause the disease CF?

Answer

Dear questioner,

To suffer from CF or mucoviscidosis one needs to have 2 CF causing mutations, one on each CF gene. Here you only list 1 mutation, namely 3417 A to T (New mutation name: c.3285A>T).
This mutation has already been described in 1991 by the team of Prof. Tuemmler in Hannover. And they did consider this mutation a variant: that means this mutation was thought NOT to be ‘disease causing’.

Since it is a really rare mutation, one should interpret this information with caution. Not every change or variant of the genetic code leads to a poorly functioning protein. Only studies that measure the function of the changed CFTR chloride channel can prove beyond any doubt that a mutation is or is not disease causing. For the majority of mutations this test has not been done, so we cannot be entirely certain. It was also not done for the mutation that you mention. We do know however that this mutation does not change the composition nor order of the amino acids in the CFTR protein so that we expect that a normal CFTR protein will be made. It is thus very very unlikely that this mutation will cause CF.
Prof. Kris De Boeck

03.05.2012