Please note: While some information will still be current in a year, other information may already be out of date in three months time.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

delta F508 and G542X

Question
My son has delta F508 and G542X .Can you tell me anything about children with cf with the above genes and how they are effected. Many thanks
Answer
Dear Questioner

Thank you for your question. These genes are common mutations seen in CF. F508 is a class 2 mutation and the commonest seen in CF. G542X is class 1 mutation and also is common (one of the five most commonly seen). Both mutations contribute to CF and some studies have looked at the groups of patients with this combination (heterozygous) and those with two F508 mutations (homozygous). One of the largest studies studies looking at this showed that there was no difference between the two groups for lung function, pancreatic function etc (New England Journal of Medicine, 1993, 329:1308-1313).
It remains extremely difficult to predict the outcome and progression even in commonly seen mutations, however there are new drugs being developed which target different classes of mutations. Class 1 mutations show promise with Ataluren and there is ongoing work in class 2 mutations.
In summary, your son has 2 of the most common mutations and are from different classes. Research in the past has shown that this combination is very similar to those with F508:F508 combinations, but like all patients, each one progresses differently and not all reach the same levels of severity over time.
Kind regards,
Dr Stephen Rowan
04.07.2012
The answer is edited by: Prof Stuart Elborn