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c81c mutation

Question
My wife is 21 weeks pregnant. She was tested and found a carrier of the DF508 mutation. I was tested as well and I was found to carry the c81c>T mutation. My wife had an amniocentesis. The fetus was found to carry the DF508 mutation and we await the results for my mutation. What are the chances for the baby?
Answer
Dear friend,
Your wife carries the DF508 mutation and is at the 21th week of gestation. You are a carrier of the c81c>T mutation. You had an amniocentesis, and the fetus was found to carry the DF508 mutation. Now you await the find out if the fetus carries the c81c>T mutation as well.
The CF gene is located at the long arm of th 7th chromosome. It is a big gene that codifies a protein, which is made out fo 1480 aminoacids. Since it is such a big gene, the related mutations are numerous. In CFTR2, the largest database for CF mutations, which has been compiled out of information for the clinical significance of each CF mutation provided by national registries, or by large CF centers, for a total of 89502 patients, the clinical significance of 374 has been determined.
312 do cause CF
36 are connected to a graded clinical presentation
13 do not cause CF
13 mutations are of unknown clinical importance.

Both in the CFTR2 database and in the international literature there are no references for the clinical significance of the c81c>T mutation. The fetus has a 25% chance to carry a combination of DF508 and c81c>T mutations, and the impact of this combination is unknown. For more information you can contact me at 2132087304.

Yours friendly,
Dr. Stavros Doudounakis
09.03.2018