Mutation 2789+5G A

Question

Hello,
My two year old son has this mutation, coupled with deltaF508.
What can you tell me about this association?
Thanking you,

Answer

Hello,
The mutation 2789+5 G-A is a splicing mutation. It was found in 492 patients from the CFTR2 database which lists information on nearly 40,000 patients worldwide, including 311 associated with F508del. Whatever the other mutation associated, the sweat test is on average comparable to patients who have a form called "classic" combining two mutations F508del (the most common). Nevertheless patients with 2789+5G-A are on average slightly older, have a respiratory function a little higher, rate of colonization with Pseudomonas aeruginosa is a little lower and have less often pancreatic insufficiency. Of course this information is statistical data that can not fully apply to an individual case. For your son, besides the combination with the F508del mutation (deltaF508), other factors may intervene, such as nutritional status, the presence or absence of modifier genes, which are so far not sought routinely, the earliness of the management and regular monitoring.

I hope that answers your question,
Sincerely,
Dr. Sophie Ravilly

11.06.2012

Please find even more information in 2 former question:
ecorn-cf.eu/index.php?id=65&L=0&tx_expertadvice_pi1[showitem]=1563&tx_expertadvice_pi1[search]=2789


ecorn-cf.eu/index.php?id=65&L=0&tx_expertadvice_pi1[showitem]=28&tx_expertadvice_pi1[search]=2789

D. d'Alquen