CFTR gene

Question

Hello,

in my husband, the CFTR-mutation R553X has been diagnosed heterozygous.
In order to exclude a CF at our daughter, a sequence analysis of the CFTR gene had been done to her. The CFTR-mutation p.R553X has been detected heterozyogous, a second mutation could not be detected fortunately.

And now to my question:
Is the mutation R553X of my husband and the mutation p.R553X of my daughter the same one?
Many thanks in advance!

Answer

Dear questioner,
Yes, the mutation R553X is today named according to a new notation as p.R553X. The traditional notation R553X is however furthermore recommended (according to the European guidelines for the moleculargenetic diagnosis of CF), but as for a few years, a uniform notation is demanded for the description of mutations for all genes, today this new notation for CFTR-mutations is also now frequently found, which can lead then to misunderstandings. Therefore, your daughter has inherited this mutation from your husband. For suffering from CF, your daughter must however have inherited also a mutation from you. I would recommend to you to get an explanation of the result of the molecular genetic investigation during a genetic counselling, if this has not happend already. A table with sites for genetic counselling can be found on the homepage of the German Association for human genetics (www.gfhev.de).
Yours sincerely, Prof. Dr. M. Stuhrmann-Spangenberg

08.06.2009