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Please note: While some information will still be current in a year, other information may already be out of date in three months time. If you are in any doubt, please feel free to ask.

very rare mutation

Question
Hello

I have been diagnosed with CF at 5 months old, with a very rare mutation: R569 homozygote. I would like to have more information on this mutation.
Answer
Hello,

I’ve contacted a geneticist after researches I’ve done in international mutation databases (www.genet.sickkids.on.ca/app and CFTR2), but we did not find any information regarding the R569 mutation. Contrairwise there is information on the Y569 mutation.

Could you please check with your CF center the mutation’s name? Please keep in touch, so we will be able to give you the information you need.

Best regards

Harriet Corvol
22.03.2012