gene mutation heterozygotes

Question

dear All,

My boyfriend received the diagnosos Cf, mutations delta f 508 c.1521_1523 del and 3300_3014del. I tried to find something about this mutations, without success so far. Could you tell me more about this (second part 3300_3014) of the heterozygotes mutation.
Kind regards,
Georgina

Answer

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 (www.cftr2.org/). 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.

23.05.2013

The answer is edited by: PhD Lisa Kent