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parents carriers of Phe508del and D924N
- Question
- Hello. I am a cystic fibrosis carrier in FD508 and I am pregnant. My husband was heterozygously found to have the c2770G>a variant. It is characterized by the database as having varying clinical significance. I spoke with a geneticist biologist and they told me that the husband's mutation is rare, very mild and non-pathogenic, so if our baby inherits the 2 mutations it will not be in a severe form of K.I . What is your opinion?
- Réponse
- The c.2770G>A variant is a variant of varying clinical significance. It is quite rare and therefore we do not have enough data to evaluate it. According to the literature, its combination with p.Phe508del is not expected to lead to the appearance of typical disease but perhaps to a milder clinical picture.
Best regards,
M. Poulou
- 09.03.2025
