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c.3154T>G (p.Phe1052Val)
Good morning, during the prenatal checkup we did the cystic fibrosis test and both my husband and I were 100% positive and we were both heterozygous for the c.3154T>G (p.Phe1052Val, rs150212784) variant. If the child turns out to be homozygous for c.3154T>G (p.Phe1052Val, rs150212784) what problems might he have? Thank you very much in advance
05.03.2025
pancreatitis / Cystic fibrosis
Good evening. I am 11 weeks pregnant and the cystic fibrosis test showed the following: No pathogenic or likely pathogenic variant mediating the classic cystic fibrosis disease was detected in the examined sample. The examined sample carries the mild variant c.3705T>G (p.Ser1235Arg, rs34911792) in heterozygosity, which is characterized as non-pathogenic with regard to the manifestation of cystic fibrosis from the CFTR2 genotype-phenotype association database (non CF-causing). Based on the international scientific literature, the p.Ser1235Arg allele may be a risk factor for the occurrence of clinical conditions that have been associated with mutations of the CFTR gene (CFTR-Related Disorders) such as pancreatitis alone or together with variants of other genes involved in the occurrence of pancreatitis. (PMID: 11186891, 25799511, 25033378 ) Now the husband will also be examined. In case a mutation is found in him, is it dangerous? Or must exactly the same heterozygotes be found??
05.03.2025
Cystic Fibrosis
In a MOLECULAR TEST OF MUTATIONS OF ALL CODING REGIONS OF THE CFTR GENE WITH Next Generation Sequencing that I did, the result was: In the sent material, no mutation was detected that is associated with a typical Cystic Fibrosis phenotype. However, in the other findings it was written that the nucleotide change c.2002C>T (p.Arg668Cys) was detected in a heterozygous state. I would like to know what this means? and if there is a problem in future pregnancies.?
05.03.2025
Cystic Fibrosis
My husband was found to be heterozygous for the f1052v variant located in exon 20 of the cystic fibrosis gene. And I was found to be heterozygous for the c.1558G>A variant located in exon 11 of the cystic fibrosis gene. I am 18 weeks pregnant. What could happen to my baby?
05.03.2025
Cystic Fibrosis
Hello doctor. I am 12 weeks pregnant and I took the CF test at 99.6% and the following result was obtained: The tested sample did not detect any pathogenic or likely pathogenic mutation that mediates the classic CF disease. The tested sample is heterozygous for the p.Pro750Leu (c.2249C>T, rs140455771) variant of the CFTR gene (NM_000492.4) which is characterized as having multiple effects by the CFTR2 genotype-clinical phenotype association database. The clinvar database has conflicting reports regarding the possible pathogenicity of the mutation: 1 entry as pathogenic, 12 as probably pathogenic and 5 as of unknown clinical significance. Based on the current literature, the above variant appears to be positively associated with congenital absence of the seminiferous tubules. We were recommended genetic counseling. Our doctor urged us to have our husband do the full test. We received the first results where he had done the ΔF508del and it came out negative. Is there a chance that the mutation I have is pathogenic and the fetus will suffer from CF? Would a mutation on the husband's side have a negative outcome? Thank you
05.03.2025
Genetic counselling - Parents carriers of cystic fibrosis mutations
Good morning, I am in the 1st trimester of my second pregnancy. Both my husband and I carry cystic fibrosis mutations. (Husband in 95% resolution carries the change c.476T>C, while I carry D614G). Our first child did not inherit any of these (as we knew after trophoblast testing & karyotyping) and is perfectly healthy. In this pregnancy, recommendation is to receive trophoblast testing again, which I will certainly do. My question is, what is the genetic counseling if the fetus is at 25% and inherits both changes? As far as we were informed in the 1st pregnancy, there is no recorded case in the literature of the appearance of a typical form of the disease with these combinations. Thank you, Christine
07.10.2024
mutation c.3154T>G (p.Phe1052Val)
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
07.10.2024
Chance of CF in the fetus
Hello, in the prenatal test for me, the mutation c.2620-15C>G in the CFTR gene was found, which is characterized as a possibly non-pathogenic polymorphism, and for my husband, c.3718-24G>A was found, which is characterized as possibly non-pathogenic/unspecified of clinical significance. What is the probability that the fetus will show both polymorphisms and what is the probability that it will suffer from CF.
22.09.2024
Effect of Trikafta
Dear experts, our son is 1 year old and has the mutations del508 and W1218X. We have a question on the effect of modulator therapy. He will get Kaftrio (Trikafta) due to his one del508 mutation. Is there any knowledge about the effect of Kaftrio (Trikafta) in case of this mutation combination? We have read, that modulators are not effective in nonsense (stop-) mutations, but they are effective in del508. Is the del508 mutation, that is corrected by modulators overtaking the whole functioning? Or how could one imagine it works? Many thanks for your answer!
07.11.2023
Recommendations for vaccination in case of lung transplantation
Dear expert team, I have a question about recommendations for Corona vaccination in case of transplantation. Transplanted patients are treated with immunosuppressive drugs, in oder to avoid organ rejection. After vaccination, there should be a reaction of the immune system, however I think this could only be a slight reaction. Until now, the physicians were not able to explain, why a patient should be vaccinated if the effectiveness is only very small. What is even more dramatic in my example is, that the patient is threaten not to be treated if he refuses the vaccination. This is how it happened. In general, we are not against vaccinations, however it has to be taken into account, if this is the best in case of a grade 4 kidney failure. Healthy people are free to decide, even if they have only advantages in case of vaccination. Could you please help me further in this situation?
18.07.2022
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