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CF yes or no?
- Question
- Hello,
my son (19 weeks old) has had a sweat test 3 times and it was pathologic 3 times.
Now the final result of the genetic analysis is still underway. However, I got an intermittend report:
Mutation 2183AA>G (HGVS- Nomenklatur: c.2051_2052delAAinsG,Exon 14, CFTR-Gen) in heterozygous form,
as well as 33 further frequent mutations: G85E, 394delTT, R117H, 621+1G^T,711+1G^T, 1078delT, R334W, R347P, R347H, A455E, I507del, F508del, V520F, 1717-1G^A, G542X, S549R, S549N, G551D, R553X, R560T, 1898+1G^A,
2183AA^G, 2184delA, 2789+5G^A, 3120+1G^A, R1162X, 3659delC, 3849+10kbC^T, 3876delA, 3905insT, W1282X, u. N1303K
Unfortunately, I did not get a real explanation in the hospital, and the appointment in the CF-center is still a bit away. I only know, that the genetic analysis is not finished, yet. The pancreatic elastase is about 500. At the moment his weight is stagnant, however we already have been 2 times in hopsital as he decompensated. His skin is extremely salty. I have once learned (I am physical technical assistant) that 2 genes have to be found, however I have no much knowledge about genetics. Can it be that he has CF even if we have the assurance only for 1 gene? And how long does a genetic analysis take? The arrival of the sample was the 26.07.11.
Many thanks for your answer,
H.
31.08.11 --addition from the ECORN-CF team:
Before the answer to the above question we got the following additional information:
"Many thanks for your efforts. We know by now, that he has CF. The mutations 2183AA>G and L206W have been found in compound heterozygousity. Now I have a new question: Is this a frequent combination or is it known in such a way that one can say something to the course of the illness? I am of course aware of the fact that there are always variations.
Greetings,
H. - Please log in to read the answer.
- 10.10.2011