Mutations

Question

Hello
Could you give me some information about the mutations F508delta and S466X. I know that some touch more organs than others.
Thank you

Answer

Hello
Over 2000 CFTR gene mutations are described actually in the CFTR2 database. The mutations F508del and S466X are both known and, when combined, lead to a classical form of the disease (comparable to that of the patients who carry 2 mutations F508del for example). To date, besides the mutations that are known to be associated with a mild form of the disease, there is no known link between the different CF clinical disorders and the CFTR mutations.
It has to be highlighted that, besides CFTR mutations, several parameters can play on the patients’ symptoms evolution; as the regular follow-up by a specialized team, early treatment of the infections and a good nutrition status. All these parameters could favorably influence the prognosis.
You may ask all these questions to your physician, as he/she might be able to give you more appropriate information. You could also ask to meet a geneticist or a geneticist counselor who will be able to explain these rather complexes CFTR mutations. I hope to have answered your questions and do please feel free to reply if you do have other ones.
Best regards
Dr. Harriet Corvol

06.02.2017