What's new
Cystic Fibrosis Forum (EXP)

This is a sample guest message. Register a free account today to become a member! Once signed in, you'll be able to participate on this site by adding your own topics and posts, as well as connect with other members through your own private inbox!

Any info on the polyT 6T/9T variant?

B

Beofett

Guest
Hi all,<div><br></div><div>My 10 month son has been diagnosed with CF.  High-normal/low-borderline sweat tests, pancreatic sufficient.</div><div><br></div><div>The genetic testing revealed a single DF508 mutation, and the 6T/9T polyT variants.  The lab test indicated that the 6T variant was "likely to be clinically significant", which, in conjunction with the DF508 mutation, resulted in the diagnosis.</div><div><br>However, I have been able to find very little information on the 6T variant.  What little I found on the PolyT variants was generally linked to other mutations (such as the R117H), and most were discussing the 5T/7T/9T variants.</div><div><br>Can anyone point me in the direction of some resources for the 6T variant by itself, or in conjunction with single DF508?</div><div><br></div><div>Thanks</div>
 
B

Beofett

Guest
Hi all,<br>My 10 month son has been diagnosed with CF. High-normal/low-borderline sweat tests, pancreatic sufficient.<br>The genetic testing revealed a single DF508 mutation, and the 6T/9T polyT variants. The lab test indicated that the 6T variant was "likely to be clinically significant", which, in conjunction with the DF508 mutation, resulted in the diagnosis.<br>However, I have been able to find very little information on the 6T variant. What little I found on the PolyT variants was generally linked to other mutations (such as the R117H), and most were discussing the 5T/7T/9T variants.<br>Can anyone point me in the direction of some resources for the 6T variant by itself, or in conjunction with single DF508?<br>Thanks
 
B

Beofett

Guest
Hi all,<br>My 10 month son has been diagnosed with CF. High-normal/low-borderline sweat tests, pancreatic sufficient.<br>The genetic testing revealed a single DF508 mutation, and the 6T/9T polyT variants. The lab test indicated that the 6T variant was "likely to be clinically significant", which, in conjunction with the DF508 mutation, resulted in the diagnosis.<br>However, I have been able to find very little information on the 6T variant. What little I found on the PolyT variants was generally linked to other mutations (such as the R117H), and most were discussing the 5T/7T/9T variants.<br>Can anyone point me in the direction of some resources for the 6T variant by itself, or in conjunction with single DF508?<br>Thanks
 
Top