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R334W/R117H in case of 7 T variant

Ερώτηση
Dear ladies and gentlemen,
we got to know, that our daughter has a mild form of CF.
She has the mutation p.Arg334Trp (R334W) and on the other allel the mutation p.Arg117His (R117H) with the 7T variant in the poly-T-region. According to our knowledge, both mutations belong to class IV. Furthermore we have been told, that the variant in the poly-T region would be most important for the severity of the clinical picture and in case of R117H 7T, a complete picture of CF would be improbable.
Wich kind of clinical symptoms do we have to expect in the course of lour daughter’s life in case those two mutations are underlying?
Many thanks for your help!
Απάντηση
Dear questioner,
you alreday know all about the mutation genotype R334W/R117H-7T: it deals with two variants of the CF gene, that both lead to an impaired function of the CFTR protein. R334W is a well known mutation, that is associated with a mild form of CF, as well as R117H. The additional information 7T says, that from the CF gene with R117H-7T quite much correct CF protein can be made (for the near relative R117H-5T less correct messenger-RNA is made in the step CF gene  messenger RNA).
More precise prediction on the course of the illness cannot be made – as this depends on many other factors, e.g. of the quality of health care at a CF center (therefore you are well cared for at your center, as your questions show, that you got the right information). The worldwide biggest and high quality information pool about the effect of CFTR mutation genotypes (https://www-cftr2.org) states therefore quite right about R334W/R117H-7T: "The consequences of this variant combination are unknown."
With my best wishes for you and your daughter,
Frauke Stanke
17.07.2017