F508del+L206W mutations (suite)

Question

Hello,
thank you very much for your answer and your support. During pregnancy, Cystic fibrosis had been suspected prenatally in our daughter (and confirmed one week after her birth), she is since then followed by one CF doctor-pediatrician. We had a first disappointing contact with a geneticist (he had made no research on the L206W mutation). We thus requested another interview with one of his colleagues, more interested in the subject. We have of course other questions, if you would like to answer it: is it possible to know the average age of the compound heterozygous patients as our daughter, if there are patients also suffering from a very short small intestine (32cm after operation at 33 weeks), and if the L206W mutation is more frequent in a certain country (Canada maybe?). We understood well that there was necessarily no correlation between the genotype and the phenotype, and that the perspectives of every "sick person" depend on multiple factors (that no "prognosis" is possible, and that the case of our baby is severe). Having said that, we notice that every answer brought to our question calms us, and thus allows us to accompany her a little more serenely. Thank you again for your first answer (and for its rapidity)
Best regards,

Answer

Hello,

Here is the information that I found, as last time, on the CFTR2 website (www.cftr2.org/mutation.php?view=general&mutation_id=41). As I previously told you, 134 patients worldwide carry at least one copy of L206W, among which 99 are compound heterozygous L206W/F508del. On this website, it’s indicated that the current average age of these patients is 22 years. However, I found no indication of short small intestine (information not communicated, what does not mean that none patient has short small intestine).

According to some scientific publications, this mutation would be “European", found in the South of France, Spain, Canada (" French Canadians ", Quebec), United States (Hispanic American) and in Brazil.

As you highlighted, there is not necessarily a correlation between the genotype (CFTR mutations) and the phenotype (disease severity), and the evolution of every patient depends on numerous factors.

I hope to have answered, at least partially, your questions, and do please feel free to reply if you do have other ones, especially if it helps you!

Best regards

Harriet Corvol

24.03.2014