Mutations delF508 and L1480p

Question

Hello, my daughter has CF with the mutations delF508 and L1480p. Nobody knows however, which course of the disease will bring the mutation L1480p.
Do you know anything about this mutation?
Yours sincerely

Answer

Hello,
in case of the mutation L1480p it deals with a very rare so-called missense mutation of the CFTR gene, and about its impact on the CFTR function no secure statements can be made. Different biometric analysis programs come here to differing results, which range from "probably changed protein function" to "pathologic", that means disease causing.
As the mutation is so seldom, there is no reliable data about the clinical courses of patients, who have this mutation. In the CFTR mutation data base only one hint can be found on this, that this mutation has been found in a 40-year old Italian man with borderline sweat test and pancreatitis, that means this man, who carries also the mutation R553X (whose clinical impact can be compared to the mutation F508del) besides the L1480p, does not have a "typical" CF.
In conclusion one can not make a secure statement about the possible course of the CF of your daughter, whereas one could indeed assume that the illness could be located rather on the "milder" side of the braod spectrum of possible courses of the CF.
Yours sincerely,
Prof. M. Stuhrmann-Spangenberg

07.04.2011