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Genetic analysis – interpretation
- Question
- Hello,
our six-month-old daughter was diagnosed with CF a while ago. My husband and I have taken a gene test which returned the following result.
The following molecular genetic result has been determined for our daughter: heterozygous mutations delta F508 (exon 10) from me, and G542X (exon 11) from my husband.
What exactly does this mean for our daughter regarding
1) progression
2) potential participation in clinical trials for new drugs
3) standard therapy
4) potential future gene therapy?
Does she have classic CF or a rather rare form?
Many thanks for your answer. - Answer
- Hello,
from what you are describinig, your daughter is “compound“ homozygous. This genotype is relatively common, and many big studies have shown that patients with the F508del/G542X genotype practically do not differ from those who are homozygous for the most common mutation (F508del). Therefore, from a molecular genetic perspective, your daughter has “classic” CF.
Progression even for “classic” CF varies widely, however, i.e. patients with the same genotype can have very different clinical progressions. Other than the assumption that your daughter will most likely have to take “digestive enzymes” (she will probably have “pancreatic insufficiency”), it is not possible to make any relevant prognostic statements from the genotype.
Concerning clinical trials, it would potentially be an option for your daughter to get treated with drugs that are targeted against the effects of the F508del mutation (e.g. VX809), or with those that are used with premature stop mutations (PTC 124® – ataluren), since G542X is such a mutation. Participation in such therapeutic trials is currently very limited, but you can talk to the doctors at your daughter’s CF clinic about it even though she might not be able to participate right now.
Your daughter’s genotype does not affect standard therapy, and it is not possible to make any reliable statements about future gene therapy.
Kind regards
Prof. M. Stuhrmann-Spangenberg - 07.09.2010
