Mutations F508del / Q220X
Hello, Our three month old son was diagnosed at birth. It has the mutations F508del and Q220X. I would like to know how people with its two mutations evolve. Thank you
CF mutation carriers
My wife and I are carriers of a CF mutation. Four years ago my wife was pregnant and she and I were tested and found positive. Afterwards, since the pregnancy was advanced, the doctor took a sample from the fetus, which was found to be just fine, not even a carrier. My wife is now pregnant for the ...
Lack of understanding of F508del-9T/Variant 5T
Hello my partner received his result of genetic analysis and it is noted that he is compound heterozygous F508del and 5T variant. Until then I understand but it is also noted (genotype [p.phe508del / 9T] + [- / 5T]) then why the 9T? Are theF508del and 9T located on the same chromosome? Does it mean ...
CF and populations
Hello, I would like to know why, when we do research on cystic fibrosis, it is very often said that this disease mainly affects Caucasian (European) populations. Outside, I come from Sub-Saharan Africa and my husband is a native of the Maghreb and our child suffers from cystic fibrosis. Likewise, ...
Hello, is it possible to have these 2 genes and have a staphylococcus aureus in a throat sampling for bronchiolitis? Because the 5T gene is a mild gene and I have never heard of Staphylococcus aureus for a patient with this combination of genes. Cordially
E1104X Mutation
Hello, My eldest son, 16 and a half years old, has cystic fibrosis with G542X / E1104X mutations. My mutation, E1104X, is native of the Maghreb (kabylie for my part but by searching on the net, I understand that there are children being homozygous for E1104X in Tunisia). This mutation is ...
Maghrebian mutations
Hello, Is it true that the mutations of persons of Maghrebian and sub-Saharian origin lead to lighter forms of cystic fibrosis? Thanks in advance. Cordially.
Mutation 3199del6
Hello My 6 year old son has CF with mutations F508/3199del6. I try to find on the net the classification of mutation 3199del6 but I cannot find any information about it. I inform you that my son was not born in France, no neonatal screening was done where we live. According to your explanation, ...
Mutations F508del / L227R
Hello, My 3 year old son has cystic fibrosis that was diagnosed less than a year ago. The two mutations found were F508del and L227R. As we live in Morocco we do not have a genetic counseling center that can tell us the degree of severity of this type of mutations and how this will develop in the ...
Moderate forms
Hello, My son 9 months old, has moderate form cystic fibrosis F508 / R347H. He is to this day without symptoms, without pancreatic involvement. I do not understand the term "mild" since I am told that this can evolve into a classic form like staying moderate. Do moderate forms have a somewhat ...
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