Please note: While some information will still be current in a year, other information may already be out of date in three months time.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

Gene mutations DELf 508 and 3300_3014del

Dear Experts,

I´ve already asked in March but my question has not been answered (up to now), so I try it again: I would like to know, if there is any information about the Mutations-combination: delta f 508 c.1521_1523 del and 3300_3014del, heterozygote? What kind of Mutation is the 3300_3014del- Mutation? I couldn´t find any more precise information about these kind of CF-Mutationscouple.
Thanks in avdance
Dear Questionner
Many thanks for your question and please accept our apologies for the late response. When we receive a question on specific mutations we usually consult the online database the CFTR2 ( Unfortunately the database does not hold any information for the mutation 3300_3014del. We then investigated a bit further with our geneticist who has not experienced this mutation either. We wonder if there may be a typo and the mutation might actually be 3300_3314del? The mutation 3300_3314del which would result in the absence of 5 amino acids. This is likely to have a detrimental effect on either protein folding or transport much like the F508del mutation.

There are many mutations that can cause cystic fibrosis. Some can cause mild dysfunction of the CFTR protein and therefore cause milder disease. And there are others that cause greater dysfunction of CFTR protein and generally more severe disease. It is however difficult to predict with certainty, the clinical presentation and future course of a patient’s condition. People with the same two copies of the mutated CFTR gene may experience very different symptoms. The job of prognosis is much more complicated when we have a rare mutation.

It would be useful to discuss the results of genetic testing and prognosis with the medical team caring for your boyfriend. They would have the results of all assessments and be able to perform a face-to-face consultation and discuss your concerns in detail.
The answer is edited by: PhD Lisa Kent