Topics

Genotype F508del / G85E
Please, I would like to get general information about the phenotype associated with the mutations F508del and G85E. Thanks
30.04.2014
Mutation 2711delT
Hello, I would like to know more about the homozygous mutation 2711delT. Is it a mutation-stop, are there any other people known with this case? Thank you very much for your Response.
30.04.2014
MUTATION
Hello, according to the result of the genetic test we know that our 9 year old son is carrying the mutation C.579 3 A sup.G and c.1521_1523 delCTT or also called p.Phe508del. Could you tell me more about these changes? Thank you in advance and thank you for this very helpful site.
05.05.2014
mutation delF508 / R553X
My son (8 years old) suffers for years from gastrointestinal problems. For him as a CF patient, lung problems are not the main focus. He has already had an ileus 2 times (as a consequence resection of 50 cm of the gut), furthermore an exocrine pancreatic insufficiency, an enlargement of the spleen ...
28.04.2014
Disease Causing or not?
Hi, my 18 month old son's CFTR renotyping results are back. He is heterozygous for; c.[1521_1523delCTT] + c.[1584G>A] they also found sequence variants of limited or no known clincal significance; c.744-31TTGA[5]+[6] c.869+11C>T c.1210-12T[7]+[9] (poly T ...
08.04.2014
DF508 and T7, T9 polymorphism
Hello, my daughter is 7 months old and she has been diagnosed with CF when she was 2 1/2 months based on her clinical symptoms and sweat test result over 100. She is severely pancreatic insufficient with no lung implications so far. We performed genetic testing for her and it seems they ...
08.04.2014
Please help me understand CF mutations.
Hello, I previously asked this question which was not answered. I am hoping to receive some information. My husband and I are in the process of electing PGD and would like to know what clinical symptoms, if any, we can expect in offspring with the following mutations: Husband: one copy ...
08.04.2014
Diagnosis during pregnancy
Hello, mother of a 18 months old girl with cystic fibrosis, I'd like to get more information about the methods of detection of CF during natural pregnancy. At what point of pregnancy are these exams performed? When are the results known? Thank you!
08.04.2014
query - carrier
Dear Sirs I sent a question to the cystic fibrosis organisation and they directed me onto you as it was medical question. I have just found out that myself and my sister are carriers of the cystic fibrosis gene only and do not actually have it. I wanted to know if it was true that if you are a ...
08.04.2014
genetic test
My son aged 11 years is diagnosed with CF since infancy, he was diagnosed at 2 months. He has Pulmozyme®, pancreatic enzymes, vitamins, etc. With about 4 years of age he did the genetic test in Cluj-heterozygous for F508del, but we don't know if the other mutation was identified. I would like to ...
08.04.2014
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