Forgot your password?
Please enter your username or email address. Instructions for resetting the password will be immediately emailed to you.
Please note: While some information will still be current in a year, other information may already be out of date in three months time.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
- Question
- Hello,
my daughter is five months old and has cystic fibrosis. She carries the mutation delta F508 and we have just learned that the other mutation, is rare: Q1280X. Could you give me information on this mutation and on the association of these two mutations? on the manifestations of the disease they can cause, even if a case is not the other ... thank you in advance. - Answer
- Hello,
I did not find information on the mutation Q1280X, but Q1281X is a mutation described in 1996 by a Spanish team.
This mutation is a class 1 mutation (as all mutations ending with X) and typically gives a form that can involve the respiratory and pancreatic tract. But as you say, each CF is unique and it is difficult to predict an individual prognosis. Outside of CFTR mutations, many other parameters can affect the evolution of patients' symptoms, such as regular monitoring by a specialized team, early treatment of infections and good nutrition. All these parameters influence the prognosis favorably.
You can discuss these points with the CF centre team and ask to see a geneticist or genetic counselor who can, if desired, give you more details on this mutation.
Sincerely,
Dr. Sophie Ravilly - 27.02.2012
