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Dear ladies and gentlemen,
our son has been diagnosed to suffer from CF. It deals with the mutation R1066H, a rather seldom mutation. Do you know the clinical course and does it belong to atypical CF?
Many thanks for your answer.
Best regards,
Dear questioner,
at first: from the diagnosis "CF" derives the existance of TWO illness-causing mutations in the CFTR gen - besides R1066H, your son carries another mutation in case of a secure diganosis, that influences the course of the illness as well.
To R1066H:
R1066H is known to be a "mild" CF-causing mutation. In the international database "CFTR2" there is drawn from the data of 97 patients, who carry the mutation R1066H, that CF patients with R1066H and another illness-causing mutation in the CFTR gen are with high probability pancreatic sufficient.
R1066H is not a variant that is more often found in case of atypical CF. An atypical CF occurs, for example, if there is only one CF-mutation, the other gene is however healthy. Typically the diagnosis is not unambiguous, as some classical CF symptoms are lacking.
Best regards,
Frauke Stanke