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Mutation
- Question
- Hello,
Is the 1717-1G> A mutation (which is part of class I mutations) associated with premature discontinuation of protein production secondary to a stop codon? In this case, could it be accessible to PTC124 (Ataluren)?
Many thanks for your reply. Yours.
- Answer
- Hello,
It is right that the 1717-1G> A mutation is a class I mutation because it does not allow the expression of the CFTR protein. However, it is not a nonsense mutation resulting in the formation of a stop codon, but a mutation causing aberrant splicing of mRNA. This mutation is not part of the mutations identified for testing PTC 124 (Ataluren). Yours sincerely.
Dr Dominique Hubert
- 29.03.2011
