Mutations?

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anonymous

New member
Hi, is pretty much everyone on this board a DeltaF508 mutation? I'm trying to understand the differences in cases between different mutations. I know that severity can vary widely between people, but some mutations are generally considered more severe, and some more mild and I wanted to know if anyone with another mutation can describe their CF history?

Thanks!
 
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anonymous

New member
My newborn son was diagnosis through newborn screening. He has the mutations Delta508 & P67L. The doctors tell us he should have a mild case.
 
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anonymous

New member
My son has a delta F508 and r560t mutation.
I have looked up the r560t and it is listed as a severe mutation because it causes pancreatic insufficency.
However doctors tell me they do not know what type of disease severity this will cause him.
Rebekah
Mother to Matt 22mths w/CF
 
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anonymous

New member
I'm not sure what class it is. I will have to check the lab paper to tell you for sure. He is 4 months old and hasn't had any signs of the disease. The P67L mutation has been said to not be diagnosed until later in life or at all.

Rachel
 
J

Jenica

Guest
Has there been much research done regarding two different mutations, one that is the common DF508 and more severe or one more mild? My daughter will be born with one DF508 and one R347P, which is supposed to be more mild. Does this mean much to her symptoms or life expectancy, etc?
 
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anonymous

New member
Ive always been told that they cant predict severity by mutations.. you wont know til later in life.. cf is a tricky thing and effects everyone differently.. even ppl with the same mutations in a family have different symptoms/problems.. ....


melissa
 
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