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Combination of CF gene mutations F508del & Gly404Val
- Question
- Good evening. We are in the 14th week of pregnancy. The wife has ΔF508 and I have Gly404Val. We know if the combination of the two mutations is pathological. If so, do you estimate whether the symptoms of CF will be severe?
- Réponse
- The ΔF508 variant (p.Phe508del) is the most common pathogenic variant of the disease. The p.Gly404Val variant has not been reported in any of the specialized databases for cystic fibrosis (CFTR-France Database, Cystic Fibrosis Mutation Database (CFTR1), Clinical and Functional Translation of CFTR (CFTR2)).
For this reason, there are no data for its evaluation. The assessment using computer programs shows that it is probably pathogenic without however being able to assess the clinical presentation of a patient who has inherited both variants.
Best regards,
M. Poulou - 17.04.2025
