c.3121-2A

Question

Hello,
after 1.5 years of running from one doctor to the other finally a sweat test had been done and a CF had been diagnosed to our son. From the father came the Phel508del- and from the mother the c.3121-2A G> mutation. Is there any experience with this combination?
Since we give Kreon to the meals, our son seem to develop normally and looks good.
Greetings

Answer

Dear questioner,
first of all I am glad, that the diagnosis could finally be made after the long waiting period. The answer to your question in short: c.3121-2A>G is from the view of a CF-genetician a "typical" CF-mutation. That means for your son, that he will benefit optimally from the therapeutic proposals of the doctors in charge - your first sight, that the treatment is effective, is therefore correct.
To the history of the sequence variant and that, what is behind the abbreviation c.3121-2A>G: this rare CFTR-mutation has first been described by CF-geneticians in a laboratory in Baltimore in the yeqar 1993. The so-called index-case patient carries the variant c.3121-2A>G on both chromosomes and has a CF-typically increased sweat test (> 110mmol/l). This is to expect regarding the mutation: translated the name of the mutation means "outgoing from the position nr. 3121 of the messenger-ribonucleic-acid there has happend a change of bases from A to G two positions ahead." At this position there is a processing instruction of the messenger ribonucleic-acid which is essential for the CF-protein - this message can only be read correctly from the cell, in case there is an A there, with the G, that carries your son, this does unfortunately not function. Behind this long-winded description there is the technical statement: "in case of c.3121-2A>G it deals with a splice mutation."
Best wishes,
Frauke Stanke

16.11.2009