First off, let me just say that I am quite impressed by this community; it's wonderful to see so many people connecting and supporting one another. It's also been great in helping me educate myself about CF - an education that began just a few days ago.<br><br>I'm a married, 34-year-old, male and my wife is pregnant with our second child. Though we didn't do genetic screening with our first pregnancy we opted for it this time as my wife is now 31. It turns out she is a carrier with the r668c mutation. So, I was tested.<br><br>I have the r668c mutation as well, which I'm told is a fairly common mutation. I also have the p.T925A mutation, which I'm told is rare and its impact is not understood. My parents will be screened in the coming weeks to see if I am merely a carrier with both mutations on the same chromosome, or an as-of-yet asymptomatic CF person.<br><br>Of course, my primary concern is for my 4 year old daughter (she will be screened this week) and my unborn child (we're not doing amneo b/c of the miscarriage risk, albeit a slight one). <br><br>I can find some literature on the r668c mutation, which appears to be a somewhat milder form of CF. I can find nothing on p.T925A - does anyone here know anything about this particular mutation, or share it as well?<br><br>Thanks again for creating such a wonderful community!<br><br>Best,<br>Shawn<br>
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r668c & p.T925A
- Thread starter Silent55
- Start date
First off, let me just say that I am quite impressed by this community; it's wonderful to see so many people connecting and supporting one another. It's also been great in helping me educate myself about CF - an education that began just a few days ago.<br><br>I'm a married, 34-year-old, male and my wife is pregnant with our second child. Though we didn't do genetic screening with our first pregnancy we opted for it this time as my wife is now 31. It turns out she is a carrier with the r668c mutation. So, I was tested.<br><br>I have the r668c mutation as well, which I'm told is a fairly common mutation. I also have the p.T925A mutation, which I'm told is rare and its impact is not understood. My parents will be screened in the coming weeks to see if I am merely a carrier with both mutations on the same chromosome, or an as-of-yet asymptomatic CF person.<br><br>Of course, my primary concern is for my 4 year old daughter (she will be screened this week) and my unborn child (we're not doing amneo b/c of the miscarriage risk, albeit a slight one). <br><br>I can find some literature on the r668c mutation, which appears to be a somewhat milder form of CF. I can find nothing on p.T925A - does anyone here know anything about this particular mutation, or share it as well?<br><br>Thanks again for creating such a wonderful community!<br><br>Best,<br>Shawn<br>
First off, let me just say that I am quite impressed by this community; it's wonderful to see so many people connecting and supporting one another. It's also been great in helping me educate myself about CF - an education that began just a few days ago.<br><br>I'm a married, 34-year-old, male and my wife is pregnant with our second child. Though we didn't do genetic screening with our first pregnancy we opted for it this time as my wife is now 31. It turns out she is a carrier with the r668c mutation. So, I was tested.<br><br>I have the r668c mutation as well, which I'm told is a fairly common mutation. I also have the p.T925A mutation, which I'm told is rare and its impact is not understood. My parents will be screened in the coming weeks to see if I am merely a carrier with both mutations on the same chromosome, or an as-of-yet asymptomatic CF person.<br><br>Of course, my primary concern is for my 4 year old daughter (she will be screened this week) and my unborn child (we're not doing amneo b/c of the miscarriage risk, albeit a slight one). <br><br>I can find some literature on the r668c mutation, which appears to be a somewhat milder form of CF. I can find nothing on p.T925A - does anyone here know anything about this particular mutation, or share it as well?<br><br>Thanks again for creating such a wonderful community!<br><br>Best,<br>Shawn<br>
Shawn, welcome to the site.
As for mutations, your best bet is if you go to the "families" forum, the very first post is Ambry Genetics who does CF genetic testing. You can reach Steve with Ambry via the thread and he is usually good about sharing whatever knowledge they have about mutations.
As for mutations, your best bet is if you go to the "families" forum, the very first post is Ambry Genetics who does CF genetic testing. You can reach Steve with Ambry via the thread and he is usually good about sharing whatever knowledge they have about mutations.
Shawn, welcome to the site.
As for mutations, your best bet is if you go to the "families" forum, the very first post is Ambry Genetics who does CF genetic testing. You can reach Steve with Ambry via the thread and he is usually good about sharing whatever knowledge they have about mutations.
As for mutations, your best bet is if you go to the "families" forum, the very first post is Ambry Genetics who does CF genetic testing. You can reach Steve with Ambry via the thread and he is usually good about sharing whatever knowledge they have about mutations.
Shawn, welcome to the site.
<br />
<br />As for mutations, your best bet is if you go to the "families" forum, the very first post is Ambry Genetics who does CF genetic testing. You can reach Steve with Ambry via the thread and he is usually good about sharing whatever knowledge they have about mutations.
<br />
<br />As for mutations, your best bet is if you go to the "families" forum, the very first post is Ambry Genetics who does CF genetic testing. You can reach Steve with Ambry via the thread and he is usually good about sharing whatever knowledge they have about mutations.