deltaF508 and R1070W study

Question

Our child is compound heterozygous for deltaF508 and R1070W, with minimal clinical manifestations so far (pancreatic sufficiency, without pulmonary complications so far, only episodes of severe dehydration). We found a study (link attached) which refers to the 2 mutations, but I dont understand it very well. What would be the conclusions of the study? How can I determine genetically how serious will manifest the disease in our case, that 3M? Thank you.
link: http://www.jbc.org/content/285/46/35825.full

Answer

Hello,
The problem of correlation between genotype (or allele mutations that make gene CFTR) and phenotype (clinical signs and symptoms) is still a problem unsolved. Until recently, it was considered that severe mutations associate classical clinical picture of disease and mild mutations associate mild disease symptoms, even situations with a single symptom (e.g. absence of deferens ducts in males). In this sense, R 1070 W mutation would fall into the mild mutations category (with pancreatic sufficiency and generally good evolution and favorable prognosis). Of course the question remains about the role of delta F 508 mutation which is a "severe" mutation. Most of the studies regarding this association of mutation, deltaF508 and R1070W reported a so called mild disease. The study you mentioned is an experimental study, about this aspect, without a clear conclusion. 3M is a monoclonal antibody (a special protein) used in the experiment. As a conclusion we can say the following: 1. Your child`s genotype is statisticaly correlated with mild form of the disease 2. eventually, every patient has an individual evolution, clinical and biological monitorisation with adequate treatment is very important for the disease`s outcome.
Sincerely, Prof.Dr.Liviu Pop

03.01.2012