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MUTATION c.1680-886A>G (remainder)
- Question
- Hello,
Thank you for your reply on the mutation c.1680-886A> G.
It is therefore a splicing mutation and not a "nonsense" mutation.
However, since due to reading frameshift it leads to a stop codon, can we assume that patients with this mutation would be eligibe to ataluren (PTC124)?
Thank you in advance for your answer.
- Answer
- Hello,
I just received the laboratory response regarding accessibility to clinical studies on Ataluren for cystic fibrosis patients being carrier of a splicing mutation including the mutation 1680-886A> G. I was confirmed that Ataluren does not treat splicing mutations causing a frame-shift. Clinical studies testing this product (phase II) concern only patients with at least one nonsense mutation: no patient with the mutation 1680-889G> A has been included in these studies.
Hope this answer can help.
Best wishes
Gilles RAULT, MD, Roscoff CF Center
- 11.05.2016
