Ν1303 mutation

Question

I am a carrier of the N1303 mutation and my wife the S912X, which is considered an extremely rare mutation. My wife is at her 6th month of pregnancy, and we have been told that the fetus carries both the CF genes and has CF. We have searched and are fully aware of the situation. Can anybody tell us about these two specific genes, or for their combination in regard to the prognosed severity of the disease and what will the symptoms be? We have only a few days ahead of us before we decide to continue or terminate the pregnancy and the ordeal lies heavy upon us. cannot anybody answer us about the severity of the disease for these two specific genes?

Answer

The N1303K mutation is one of the most common mutations in Cystic Fibrosis (CF). The S192X is one of 1600 mutations in CF. It has been described in one patient in Sardinia, in combination with 2183AA mutation in the other chromosome and the patient suffers from pancreatic insufficiency (Cystic Fibrosis Mutation Database, QFTP).
The only relationship between mutations and clinical manifestations in CF is the pancreatic function. In order for the pancreas to function normally the newborn with CF must carry at least one mutation which is combined with normal pancreatic function (Christidis).
The mutations are not useful for the prediction of the pulmonary function or for the prognosis of the disease, something that basically is of interest to the patients with CF. For this reason they must not be used as predictors of the pulmonary disease in CF (ecorn-cf.eu/uploads/media/Castellani_C_et_al.__2008__Consensus_on_the_use....pdf).

Yours sincerely,
Dr. Dr. Doudounakis

11.11.2010