Topics

very rare mutation
Hello I have been diagnosed with CF at 5 months old, with a very rare mutation: R569 homozygote. I would like to have more information on this mutation.
22.03.2012
mutations database
Hello, We are the parents of a 7 month old CF girl, who has 2 CFTR mutations: p.W1204X and p.I507del. We understood that they were rare mutations. We know that there is a database gathering several CFTR mutations and giving information on the phenotype related to such mutations. Is there any ...
22.03.2012
amniocentesis
Hello, I had a son diagnosed with CF (homozygot delta F508). If we decide to have another child, will the amniocentesis test all the chromosomes or just the chromosome responsible for CF. Is it possible that we, the parents, might have other mutations besides deltaF508? How many mutations exist in ...
22.03.2012
mutation classes and effects
My daughter has a h1054d, often classified in articles as a missense class 4 mutation. Her 2nd mutation is 4021inst. I have been told that it was a frameshift mutation. In my web researches, frameshift mutations are said to be class 1 mutations. Mutations 2, 3 and 4 are always missense ...
22.03.2012
Cystic Fibrosis deltaF508/deltaF508
Hello. I am "host family" and I look after a 12 years old CF girl. On her annual assessment, I could read: mutations delta F508 /delta F508. What does it mean? I know that there are several CF. Could you tell me if she belongs to those who have "moderate form", so to speak? Her treatment is: 8 to ...
28.02.2012
Genotype
I have been identified with dF508 as my first mutation, and Q493X. What does it mean? Im really confused with the numbers, the letters. I have no clue but i really would like to know as I have cf.
28.02.2012
Class II & III muations
I am fairly new to learning about CF but have accepted the baby has this and the mutations are Class II & III. The little one is now 6 months and 2 wks old and so far the health has been excellent, not even a slight cold. The weight gain on average is about 0.64grms per week and his CF clinic are ...
22.03.2012
Question #1: Is it PTC 124? / Question #2: Amendment to my question
[Note from ECORN-CF: This combines two questions the questioner asked consecutively.] Dear expert team, I have three important questions: 1) My doctor, who unfortunately is not there anymore now, had me examined in order to find out which mutation I have. I do not remember the name now; ...
28.02.2012
mutation
Hello, my daughter is five months old and has cystic fibrosis. She carries the mutation delta F508 and we have just learned that the other mutation, is rare: Q1280X. Could you give me information on this mutation and on the association of these two mutations? on the manifestations of the disease ...
27.02.2012
Normal lifespan
My baby has deltaF508 and R1070W and is almost healthy (details are in a previous question). I found a study that shows the combination of the two mutations can lead to a normal life span. see below http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2785447/ What kind of treatment and further ...
14.02.2012
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