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Mild CF?
- Question
- Hello,
I would like to know if it can be said that the splicing mutation 711+1G>T and the stop mutation p.R1162X. belong to a mild mutation?
- Answer
- Hello,
Both mutations are "typical" for CF. But even for the well known "typical" CF mutations, an individual prognosis about the course of the disease is not possible because the course of the disease can be very different even if CF patients have the same CFTR mutations. The distinction between "mild", "severe" or "typical" and atypical" with regard to CF (or rather CFTR mutations) is always a very rough classification and there is no clear classification either but there are many overlaps. Both mutations mentioned above belong to the category "severe" or "typical" while it cannot be said what this means in the single case.
Best regards,
Prof. Dr. Stuhrmann-Spangenberg - 07.05.2012
