User login

Enter your username and password here in order to log in on the website:
Login

Forgot your password?

Please note: While some information will still be current in a year, other information may already be out of date in three months time. If you are in any doubt, please feel free to ask.

cf prospects

Question
I am pregnant and carry the c. 2758G>T(p.Va1902Leu/V920L mutation of the CFTR gene, while my husband carries in heterozygote state the c.902A>GCp.Tyr301Cys/Y301c mutation in exon 7. What are the chances of the baby having CF? Thank you.
Answer
Dear friend,
You are pregnant and you carry the V920L CF mutation and your husband carries the Y301C mutation.
The CF gene is a a large gene that is found on the long leg of chromosome 7. It regulates the production of the CFTR protein, which is comprised of 1400 aminoacids. This protein if found on the surface of epithelial cells of exocrine glands. The main function of this protein is to control the chlorine channels.
Uptodate there have been over 2000 mutations reported, the majority of which are considered pathological, i.e. the affect the production, or the function of the CFTR protein. In the greek population the most common mutation, the DF508, has been found in 53.4% of CF cases. There are 64 other CF mutations that are reported in over 0.1% of patients, and nearly as many others that are reported in less than 0.1% of patients, i.e. in one patient only.
For these reasons a world wide database has been created, the CFTR2, in which CF patients from all other the world (national registries, CF centers) are recorded, and clinical data of the most common CF mutations from 89509 patients are gathered.
During the last recording of 8/12/2017 the clinical significance of 374 mutations was noted.
312 mutations cause CF
36 present a variable clinical manifestation of CF
13 do not cause CF
13 are of unkown clinical significance.

There is no reference in this database about the mutations you and your husband carry.
I managed to locate, after personal communication, only one clinical report in the international literature about the mutation you carry, which was combined with the DF508 mutation, in a male who was detected after being checked for sterility (Girodon 1999).
Dear friend, the fetus has a 50% chance to be a carrier of a CF mutation (either yours, or your husband's), a 25% to not be a carrier of any CF mutation, and a 25% chance to carry both mutations (yours and your husband's), in which case the clinical importance of this combination is unknown.
Yours friendly,
Kostas Katsoulakis
25.05.2018