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Combination of mutations
- Question
- My husband and I were found to carry the c.358G>A variant in the prenatal screening. while my husband carries the TG11 polymorphism? 5T/7T of the inner 8. Will there be a problem with our baby?
- Réponse
- The mutation c.358G>A (ή p.Ala120Thr) is a mutation of the CFTR gene with various consequences.
Some patients with this variant, in combination with another variant that causes cystic fibrosis (CF), have symptoms of the disease. Other patients with this variant, in combination with another variant that causes CF, do not have CF.
The 5T;TG11 mutation DOES NOT cause CF when combined with another mutation that causes CF.
According to the above, a person carrying c.358G>A and 5T;TG11 is not expected to show symptoms of Cystic Fibrosis.
Reference:
• https://cftr2.org/mutation/general/5T%253BTG11/
• https://cftr2.org/mutation/general/A120T
Best regards,
M. Poulou - 09.03.2025
