F508del

Question

I carry the F508del mutation and I would like to know a bit more about this gene abnormality.

Answer

Dear Ecorn user,

Thank you for your question.
The CFTR gene is the genetic code to make the CFTR protein. The fact that someone carries the mutation F508del on one of his two CFTR genes means that he has an error in this code (mutation).
In Belgium and Holland about 1 in 30 to 40 individuals will carry an error in the CFTR gene. They are called a CF carrier. Being a carrier of one CF mutation does not lead to the disease cystic fibrosis. Indeed CF is a disease that only comes to expression when there is an error in both CFTR genes: one on the gene inherited from the father + one on the gene inherited from the mother.

If you are a CF carrier there is however a 1 in 2 chance that you will give this mutation to your offspring. Since being a CF carrier is rather frequent it is advised that- at the time of family planning -also the partner of such a person is examined for carriership of CF. When both partners carry the CF gene, the chance is 1 in 4 that the child will suffer from cystic fibrosis.

Until now more than 1800 different CFTR mutations have been described. In Northern Europe F508del is by far the most frequent CFTR mutation. This mutation will lead to a loss of one building block (called amino acid). This abnormal protein is then recognised and broken down. If this abnormal gene is not ‘compensated’ by a second normal gene, no normal CFTR appears at the cell membrane and one than suffers from cystic fibrosis.

You find more information about all of this under the section ‘carrier’ and ‘genetics’.

Best regards,
T Van Ackere, K De Boeck

08.05.2012