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R1048G mutation
- Question
- My husband is a heterozygous carrier of R1048G, I am a heterozygous carrier of R1162X; my 4-year-old daughter has a mild form of CF, which, however, seems to be attributable to my husband’s genes.
What information is available about R1048G so far? - Answer
- There is no groundbreaking information available on R1048G. In the CFTR Mutation Database (Toronto), there is an entry on the subject from Padua (Italy) that reads as follows:
“The change was found in the asymptomatic husband of a CF carrier (sister of a CF patient). The couple, origin from Germany, have a daughter (1 y) R1162X/R1048G with a negative sweat chloride test, further clinical information is not available.”
This somehow reads as if it describes the questioner’s family.
Apart from that, one can only speculate that the effects of this missense mutation could be rather mild. However, even if one would check with the relevant software whether the mutation would lead to a shift in the CFTR function or not, one could not draw any conclusions from that for the individual prognosis.
Kind regards
Prof. Dr. M. Stuhrmann-Spangenberg - 24.03.2009
