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mutation
- Question
- Hello,
My 3 years old son has these 2 mutations: 1811+1.6kbA>G and G542X. What do you know about these mutations and their association? Thanks.
- Answer
- Hello,
The 1811+1.6kbA>G mutation is a splice mutation reported in 32 patients in the CFTR2 database which gives information from 40000 patients worldwide. G542X is a nonsense mutation described in 1651 patients. The association of these 2 mutations results in a “classical” form of CF with pancreatic insufficiency and a Pseudomonas aeruginosa colonization rate of 70%. Of course these data are pooled from different patients and do not reflect an individual case. For your son, you have also to consider the nutritional status, the presence or absence of modifiers genes (they are not screened currently in routine), the kind of treatment and follow-up.
I hope to have answered your question. With my best regards,
Prof Jean-Christophe Dubus
- 25.06.2012
