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Combination of ΔF508 and E822X mutations
- Question
- Good evening. I am pregnant and after amniocentesis it was found that the fetus is a compound heterozygote for the mutations ΔF508 and c.2464G>T (E822X). I understand that these are mutations of a severe form of CF. However, could you describe to me a clinical picture of this combination? Thanks in advance
- Réponse
- The clinical presentation of each patient may vary in severity, but someone who is compound heterozygous for the ΔF508 and c.2464G>T (E822X) mutations would be expected to present with typical disease.
Manifestations are usually in early childhood or, in some cases, even at birth (meconium ileus). Almost any internal organ can be affected, but primary manifestations involve the respiratory system (chronic bronchitis), the pancreas (pancreatic insufficiency, juvenile diabetes, pancreatitis) and, more rarely, the intestine (fecal obstruction) or the liver (cirrhosis).
Best regards,
M. Poulou - 09.03.2025
