mutation c.3154T>G (p.Phe1052Val)

Question

Good morning, in the prenatal checkup we did the cystic fibrosis carrier testing and me and my husband (testing at 100% ) were both heterozygous carriers for the variant c.3154T>G (p.Phe1052Val, rs150212784). If the child is homozygous for c.3154T>G (p.Phe1052Val, rs150212784) what problems might he have?
Thank you very much in advance

Answer

This variant combination has varying consequences. Some patients with this combination of variants have CF while other patients with this combination of variants do not have CF.
Because of this variability, it is very important to use CLINICAL CRITERIA ONLY to determine whether a person with this variants has CF. Because the clinical manifestations of CF can vary over a person's lifetime, people who have this combination of variants should have periodic checkups with their doctor even if they do not have clinical signs or symptoms of CF at this time.
Cystic fibrosis patients who have this combination are likely to have pancreatic sufficiency and have mild disease symptoms with an older age of onset of symptoms
Reference: https://cftr2.org/mutation/general/F1052V/F1052V
Prof. M Poulou

07.10.2024