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Please note: While some information will still be current in a year, other information may already be out of date in three months time.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.
mutations
- Question
- Hello
The 2 mutations p.W1204X et p.I507del led to which clinical profile? Thanks for your help. - Answer
- Hello,
W1204X et I507del are rare CFTR mutations. Combination of the 2 led to a clinical profile comparable to that of patients homozygous for F508del (DF508/DF508): a classical form.
However, many other parameters can affect the development of the patients’ symptoms; as such the regular monitoring by a specialized team, early treatment of infections and good nutrition. These are all factors that could favorably influence the prognosis.
Please discuss these points with the CF center team and ask to consult a geneticist, or a geneticist counselor, who will be able, if you whish, to give you more details on these mutations.
Sincerely,
Harriet Corvol
- 15.11.2011
