Topics

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
17.03.2017
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 ...
24.02.2017
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 ...
24.02.2017
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, ...
24.02.2017
F508/5T
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
24.02.2017
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 ...
24.02.2017
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.
24.02.2017
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, ...
24.02.2017
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 ...
24.02.2017
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 ...
14.02.2017
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