Fel,
You certainly seem to have a good understanding of the possibilities. There are a lot of families like yours where the genetics doesn't quite add up. It seems like the S912L is definitely not a severe disease causing mutation and may not be a mild one either but it is possible that it...
Thanks LL for a good background and update for many. Just to clarify about the 5T polymorphism issue. Everyone carries a certain number of T's that are strung together in intron 8 of the CFTR gene. Most people carry 7 or 9, and about 7% of the population carry 5. Right next to this poly T...
Sorry that I have not been getting notifications when questions are posted to this thread. hopefully that has been fixed and I should be available to answer questions in a reasonable time. If someone still has questions that need an answer please let me know, otherwise I should be able to...
Answer from Ambry
Beccamom
The test that you need done is Ambry CF Amplified. This is full sequencing and deletion testing and is the most comprehensive testing available for CF. all panels only check for certain mutations, that is why you need sequencing to be able detect all mutations...
Rare mutation
Sara,
Only one other person with that mutation besides your daughter, no real information to share. All this tells us is that this mutation is very rare but there is no way to predict anything about it. Your daughter will be the best predicter of what will happen.
best of...
child's results
It looks like all they found was deltaF508, no 5T, so she is just a carrier. The other variant is R75Q which is not a disease causing mutation, I hope that helps.
steve
This string was just recently brought to my attention. There seems to have been some misunderstanding I would like to clear up. Yes the 3849+10kb mutation is one of the non X mutations that will work with Ataluren.
The typical stop mutation is any mutation that ends in an X. This mutation is in...
Jeanine and Pam,
Both R334W and R1066H are classic CF causing mutations that can result in typical severe CF when combined with another severe mutation. I am not sure of the class of mutation but the Class of mutation is not significant.
All mutations can vary and the disease is not the same in...
Jeanne,
It looks like he has deltaF508 and 3199del6, This is a less common mutation but would be considered a typical classic CF causing mutation. Each child is different so you can never predict exact symptoms from the mutations.
I am not sure what class of mutation this is.
Steve
Julie,
Basically he is a carrier of the 5T, which is like being a carrier of a mild mutation. Not going to cause CF like disease by itself. If deletions were not performed it would be a reasonable option to check for that since that does account for a group of CF mutations. I would also think...
Sweetninis,
Yes it is possible for someone to be a carrier of CF and Thalassemia since they are located on different chromosomes and have no interaction with each other. It is also possible for a person to be affected with two different genetic conditions as well.
Steve
Jen,
V470 is the same as M470V. And yes if one parent has two V's then the child would have to have at least 1. In fact many people have two and about half the population has at least one. So this is a very common variant that has no clinical significance.
Steve
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