User login
Enter your username and password here in order to log in on the website:
Please note: While some information will still be current in a year, other information may already be out of date in three months time.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.
Mutation delta f508/2789+5g a
- Question
- My daughter has an atypical form of CF with the mutations delta F508 / 2789+5G>A.
Do you have any experience with the mutation?
What does atypical mean? - Answer
- Dear questioner,
in case of a typical CF both CF genes are not functioning. There are many different disturbances in the CF gene CFTR, one of those, F508del-CFTR (or delta F508) is such a typical CF mutation.
The other mutation of your daughter can be described to have an impaired function, however not a total loss of function: 2789+5G>A means, that the mistake in the genetic material is only partially recognized by the cell. The messegner molecule that is made out of the genetic material, the so-called mRNA however, is only partially defective. A part of those messegner molecules of the mutation 2789+5 G>A is in contrast totally correctly tranlsated by the cell, processed and leads to functioning CFTR.
Atypical means in the context with CF, that the symptoms of CF do not occur in all organs or that the illness is only diagnosed, if the patient is markedly older than the average (typical) CF patient.
Best regards,
Frauke Stanke - 03.11.2014
- 3.11.14
Please find even more information in 2 former question:
ecorn-cf.eu/index.php?id=65&L=0&tx_expertadvice_pi1[showitem]=1563&tx_expertadvice_pi1[search]=2789
ecorn-cf.eu/index.php?id=65&L=0&tx_expertadvice_pi1[showitem]=28&tx_expertadvice_pi1[search]=2789
D. d'Alquen
