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dele 2,3 / e822X
- Question
- dele 2,3 / e822X
- Answer
- Dear friend,
The mutation Ε822Χ (C2464G>T) has an incidence of 0.84% in the greek population. It is a severe mutation in regard to the peptic and respiratory system, when it is combined with another severe mutation (such as dele2,3 which is supposed to be an shortening for the CFTRdele2,3 mutation). Nevertheless, the prognosis for the child in not predetermined, and it can be good, provided that the child does systematic physiotherapy and follows the instructions of the CF center that is treating it. Furthermore, there is the potential for treatment with PTC124, which is tested at an experimental stage in France, Belgium, Israel and elsewhere, while the results seem to be very hopeful in the years to come for patients that carry mutations, which their name ends in X (e.g. E822X, G542X, W1282X etc).
Regards,
Dr. Stavros Doudounakis
- 22.11.2010
