User login

Enter your username and password here in order to log in on the website:
Login

Forgot your password?

Please note: While some information will still be current in a year, other information may already be out of date in three months time.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 update?

Question
In the year 2003 my genotype had been confirmed to be compound-heterozygous for the mutations DF508 and 405+1G->A.
At that time, about 1300 mutations were known.
Today the number is about over 2000. Would it be sensibel to have a new mutation update done after 10 years?
It seems to be reasonable to me that possibly all patients know their mutation profil "in time" (knowledge for the participation in studies...etc.)
Regards and many thanks,

CF patient from Switzerland, 46 years old
Answer
Dear questioner,

no, here the human genetist does not have to work-up anything again: you have two typical CF-causing mutations and have therefore a "clarified" or also "fully infomationable" genotype. F508del-CFTR is as the most common CF mutation well known, 405 +1G->A is a change at one of the very conserved positions +1, +2 at the beginning of an intron (highly conserved means that at the position 405+1 there has to be a G - A is falsely recognized). From the human genetic standpoint there is everything known about you for 12 years, that a physician has to know.

Best regards,
Frauke Stanke
09.11.2015