Mutations TG12T5 and 1601F (or I1601F)

Question

Hello,
I have just learnt that I carry these two mutations and I would have liked to know more about them. Thanks to all those who can enlighten me.

Answer

Hello,
CFTR mutations, leading to cystic fibrosis (CF), are numerous and have variable consequences on CFTR protein, and, thus, on disease severity. Over 2000 CFTR gene mutations are described actually in the CFTR2 database.
As I did not know the I1601F mutation, I looked at the information available on the CFTR2 website (link: http: // www.cftr2.org /) and questioned a geneticist. There is so far no information available for this mutation on the CFTR2 website. According to the geneticist I have contacted, 2 patients in France carry this mutation, and its consequences are unknown.
The TG12T5 variant is reported on the CFTR2 website, as it is more frequent. Combined to another cystic-fibrosis causing variant, the TG12T5 has varying consequences: some patients having a “classical" form of cystic fibrosis and other a mild form of the disease.
This information need to be cautiously considered as the number of reported patients is very low, and as there may exist an important variability in the disease expression from a patient to another. Furthermore, 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 fill free to reply if you do have other ones.
Best regards
H. Corvol

30.01.2017