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Heterozygote 621+1G>T and F508del
- Question
- My daughter carries the mutations 621+1G>T and F508del. How serious is her condition?
- Answer
- Dear friend,
Your daughter carries two mutations of the CFTR gene who are responsible for a typical presentation of CF, i.e. pancreatic insufficiency and pulmonary infections (Castellani 2008).
Yours friendly,
Dr. Stavros Doudounakis - 12.06.2015
- 12.06.15
Please notify that a clinical condition cannot be foreseen according to the mutations alone, as many other epigenetic factors and environmental factors influence the clinical outcome.
D. d'Alquen
