V520f

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amykay1965

New member
I am desperate to know any others with the V520F mutation, or if anyone knows what class of mutation it is. The little bit of information I can find on it makes no sense to me. I'm just wanting to know if I can fight for Kalydeco for my daughter with it. Her other mutation is Delta F508. Thanks so much, Amy
 
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brandonalbert

New member
My son has the same mutations. I can not answer your question but would love to know that answer too. How old is your daughter?
 
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lcdbot27

New member
It's a Class III mutation and Kalydeco alone does not work on that mutation, according to the Vertex presentation slides.
 
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Taylersmom

New member
Hello, my son has V520F & 17 17 ig<a.... I was told that this is a class 3 mutation, with pancreatic insufficiency characteristics... Which doesn't make sense for my son, because he has always been able to keep weight on.. He is more asthmatic... He is 16 and pretty healthy overall, on minimal meds... Hope this helps....
 
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Printer

Active member
Taylersmom:

I didn't begin to become PI until I was 27. It took about 30 years to become 100% PI.

Bill
 
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stephen

Guest
According to the "The Clinical and Functional TRanslation of CFTR (CFTR2); available at http://cftr2.org. Copyright 2011 US CF Foundation, Johns Hopkins University" website:

http://www.cftr2.org/

V520f is a missense mutation.
There are 73 instances of this mutation in their data base which contains over 40,000 patients world wide.
There are 48 (38 ?) patients with V520F and F508del, all pancreatic insufficient.

The data base contains information gathered from CF centers around the world wide. The site has more information on the V520F mutation along with many other mutations.

I found the site a bit confusing to use at first but once you get use to it there is a lot of useful data to be found. Happy "hunting".
 
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kyeev

New member
amykay1965 said:
I am desperate to know any others with the V520F mutation, or if anyone knows what class of mutation it is. The little bit of information I can find on it makes no sense to me. I'm just wanting to know if I can fight for Kalydeco for my daughter with it. Her other mutation is Delta F508. Thanks so much, Amy
Click to expand...

I think I have replied to you before, but anyway...
...I also have have DF508/V520F.
I'm aged 38, pancreatic insufficient, had meconium ileus as a baby and my lung function is now about 40%.

From the little data I've seen, kalydeco, on its own, doesn't work for V520F.
But who knows, it might work when they try it along with their other corrector drugs vx-660 or vx-809.

And finally nobody has published data to definitively say whether V520F is class II or III.
Class III looks like being the best guess.
 
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GenH

New member
I haven't looked up info about this mutation recently, but looking at the Vertex graphs it has minimal baseline function, which means it is not class 4 or 5. Based on the name it is not class 1 (these end in X, have an arrow or have del/ins etc). This leaves class 2 and 3. It does not respond to Kalydeco in the Vertex graphs, but it could still be class 3. Some mutations also have more than one defect, eg P5L seems to have a mild processing and a gating defect, so it may be more complex than just one type of defect.
 
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