Just found out 2nd mutation...

C

Caleblove0802

New member
I just received my son's 2nd mutation. His first one they found was G551D. This mutation was every where on the internet. I found lots of stuff on it. But then there is his 2nd mutation and I cannot locate it anywhere. It is 2585delT. Told you it seemed latin <img src="i/expressions/face-icon-small-smile.gif" border="0"> Does anyone have any information on this mutation? Or can anyone guide me in the right direction. I asked my center and they were pretty vague with their answers.

Thanks!
Melissa
1 son Caleb 14mos old w/CF
 
C

Caleblove0802

New member
I just received my son's 2nd mutation. His first one they found was G551D. This mutation was every where on the internet. I found lots of stuff on it. But then there is his 2nd mutation and I cannot locate it anywhere. It is 2585delT. Told you it seemed latin <img src="i/expressions/face-icon-small-smile.gif" border="0"> Does anyone have any information on this mutation? Or can anyone guide me in the right direction. I asked my center and they were pretty vague with their answers.

Thanks!
Melissa
1 son Caleb 14mos old w/CF
 
C

Caleblove0802

New member
I just received my son's 2nd mutation. His first one they found was G551D. This mutation was every where on the internet. I found lots of stuff on it. But then there is his 2nd mutation and I cannot locate it anywhere. It is 2585delT. Told you it seemed latin <img src="i/expressions/face-icon-small-smile.gif" border="0"> Does anyone have any information on this mutation? Or can anyone guide me in the right direction. I asked my center and they were pretty vague with their answers.

Thanks!
Melissa
1 son Caleb 14mos old w/CF
 
A

anonymous

New member
Just wanted to say I have G551D (and Delta F508) I don't know anything about your son's other mutation though. G551D has celtic origins and is a class III mutation.
 
A

anonymous

New member
Just wanted to say I have G551D (and Delta F508) I don't know anything about your son's other mutation though. G551D has celtic origins and is a class III mutation.
 
A

anonymous

New member
Just wanted to say I have G551D (and Delta F508) I don't know anything about your son's other mutation though. G551D has celtic origins and is a class III mutation.
 
A

Allie

New member
Super rare, I had a hard time finding things on it. The only other person I found with it was a 13 year old Hispanic, it seems to be a Hispanic mutation. The information I found on it referred to it as a stop codon, which would make it a class one mutation.

Hope this helps.
 
A

Allie

New member
Super rare, I had a hard time finding things on it. The only other person I found with it was a 13 year old Hispanic, it seems to be a Hispanic mutation. The information I found on it referred to it as a stop codon, which would make it a class one mutation.

Hope this helps.
 
A

Allie

New member
Super rare, I had a hard time finding things on it. The only other person I found with it was a 13 year old Hispanic, it seems to be a Hispanic mutation. The information I found on it referred to it as a stop codon, which would make it a class one mutation.

Hope this helps.
 
S

StevenKeiles

New member
Melissa,

This is not a mutation that has been reported much. Ambry was the first to identify this mutation and we reported it in an article that we published with Stanford in 2005. Here is the link <a target=_blank class=ftalternatingbarlinklarge href="http://jmd.amjpathol.org/cgi/content/full/7/2/289
">http://jmd.amjpathol.org/cgi/content/full/7/2/289
</a>
We have seen this in many other individuals as well and it appears to be a typical CF mutation.

I hope that helps.

Steve
 
S

StevenKeiles

New member
Melissa,

This is not a mutation that has been reported much. Ambry was the first to identify this mutation and we reported it in an article that we published with Stanford in 2005. Here is the link <a target=_blank class=ftalternatingbarlinklarge href="http://jmd.amjpathol.org/cgi/content/full/7/2/289
">http://jmd.amjpathol.org/cgi/content/full/7/2/289
</a>
We have seen this in many other individuals as well and it appears to be a typical CF mutation.

I hope that helps.

Steve
 
S

StevenKeiles

New member
Melissa,

This is not a mutation that has been reported much. Ambry was the first to identify this mutation and we reported it in an article that we published with Stanford in 2005. Here is the link <a target=_blank class=ftalternatingbarlinklarge href="http://jmd.amjpathol.org/cgi/content/full/7/2/289
">http://jmd.amjpathol.org/cgi/content/full/7/2/289
</a>
We have seen this in many other individuals as well and it appears to be a typical CF mutation.

I hope that helps.

Steve
 
C

Caleblove0802

New member
Thank you everyone for helping me with this. Thank you Steve for the link-I appreciate it. Now I just need to read through it several times to understand it <img src="i/expressions/face-icon-small-smile.gif" border="0">

Thanks again!
Melissa
1 son, Caleb, 14 mos w/CF
 
C

Caleblove0802

New member
Thank you everyone for helping me with this. Thank you Steve for the link-I appreciate it. Now I just need to read through it several times to understand it <img src="i/expressions/face-icon-small-smile.gif" border="0">

Thanks again!
Melissa
1 son, Caleb, 14 mos w/CF
 
C

Caleblove0802

New member
Thank you everyone for helping me with this. Thank you Steve for the link-I appreciate it. Now I just need to read through it several times to understand it <img src="i/expressions/face-icon-small-smile.gif" border="0">

Thanks again!
Melissa
1 son, Caleb, 14 mos w/CF
 
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