So we just found out my son has both DF508 and C.3140-26A>G. Of course there's a decent amount of information about the 508 but I've searched and searched online for any information at all about the C.3140. Anyone know of any good sites that has any information at all? Also, how and when might we find out which mutation is the more dominant? We have yet to meet our doctor to discuss but like most parents, we're wanting answers now! Another question is since he's pancreatic sufficient now, is that because of the C.3140 or because there is a good chance it might change in the future?
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Genetic Test Result Questions
- Thread starter ashinhoc
- Start date
So we just found out my son has both DF508 and C.3140-26A>G. Of course there's a decent amount of information about the 508 but I've searched and searched online for any information at all about the C.3140. Anyone know of any good sites that has any information at all? Also, how and when might we find out which mutation is the more dominant? We have yet to meet our doctor to discuss but like most parents, we're wanting answers now! Another question is since he's pancreatic sufficient now, is that because of the C.3140 or because there is a good chance it might change in the future?
So we just found out my son has both DF508 and C.3140-26A>G. Of course there's a decent amount of information about the 508 but I've searched and searched online for any information at all about the C.3140. Anyone know of any good sites that has any information at all? Also, how and when might we find out which mutation is the more dominant? We have yet to meet our doctor to discuss but like most parents, we're wanting answers now! Another question is since he's pancreatic sufficient now, is that because of the C.3140 or because there is a good chance it might change in the future?
Hello - I am glad you found the mutations but I'm sorry it is a positive diagnosis.
Regarding the C.3140-26A>G, it has a legacy name of 3272-26A>G. You might try googling the legacy name. For example, I found this article indicating that is possibly a "mild" disease-causing mutation: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ionchannels.org/showabstract.php?pmid=10425036">article</a>
It is also often the case that the "milder" genotype controls the phenotype and leads to milder symptoms. I'm sure you've discovered that the DF508 is <i>not</i> considered a mild mutation. However I would caution you (and others will, as well) <b>that the same genes will cause different disease progression in different people,</b> so preventive care is important. Your CF care team at an accredited CF center will obviously be a good resource.
This forum doesn't get much traffic for some reason, so I hope others will also respond. The Families section gets the most traffic for parents of CF'ers. I wish you all the best.
Edited to add this article: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734751/pdf/v038p00777.pdf">lengthy article indicating a Class V mutation</a>
Once you click on the link, scroll down. I read your other posts - a Class V mutation is a reason for positivity! <img src="i/expressions/face-icon-small-smile.gif" border="0">
Regarding the C.3140-26A>G, it has a legacy name of 3272-26A>G. You might try googling the legacy name. For example, I found this article indicating that is possibly a "mild" disease-causing mutation: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ionchannels.org/showabstract.php?pmid=10425036">article</a>
It is also often the case that the "milder" genotype controls the phenotype and leads to milder symptoms. I'm sure you've discovered that the DF508 is <i>not</i> considered a mild mutation. However I would caution you (and others will, as well) <b>that the same genes will cause different disease progression in different people,</b> so preventive care is important. Your CF care team at an accredited CF center will obviously be a good resource.
This forum doesn't get much traffic for some reason, so I hope others will also respond. The Families section gets the most traffic for parents of CF'ers. I wish you all the best.
Edited to add this article: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734751/pdf/v038p00777.pdf">lengthy article indicating a Class V mutation</a>
Once you click on the link, scroll down. I read your other posts - a Class V mutation is a reason for positivity! <img src="i/expressions/face-icon-small-smile.gif" border="0">
Hello - I am glad you found the mutations but I'm sorry it is a positive diagnosis.
Regarding the C.3140-26A>G, it has a legacy name of 3272-26A>G. You might try googling the legacy name. For example, I found this article indicating that is possibly a "mild" disease-causing mutation: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ionchannels.org/showabstract.php?pmid=10425036">article</a>
It is also often the case that the "milder" genotype controls the phenotype and leads to milder symptoms. I'm sure you've discovered that the DF508 is <i>not</i> considered a mild mutation. However I would caution you (and others will, as well) <b>that the same genes will cause different disease progression in different people,</b> so preventive care is important. Your CF care team at an accredited CF center will obviously be a good resource.
This forum doesn't get much traffic for some reason, so I hope others will also respond. The Families section gets the most traffic for parents of CF'ers. I wish you all the best.
Edited to add this article: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734751/pdf/v038p00777.pdf">lengthy article indicating a Class V mutation</a>
Once you click on the link, scroll down. I read your other posts - a Class V mutation is a reason for positivity! <img src="i/expressions/face-icon-small-smile.gif" border="0">
Regarding the C.3140-26A>G, it has a legacy name of 3272-26A>G. You might try googling the legacy name. For example, I found this article indicating that is possibly a "mild" disease-causing mutation: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ionchannels.org/showabstract.php?pmid=10425036">article</a>
It is also often the case that the "milder" genotype controls the phenotype and leads to milder symptoms. I'm sure you've discovered that the DF508 is <i>not</i> considered a mild mutation. However I would caution you (and others will, as well) <b>that the same genes will cause different disease progression in different people,</b> so preventive care is important. Your CF care team at an accredited CF center will obviously be a good resource.
This forum doesn't get much traffic for some reason, so I hope others will also respond. The Families section gets the most traffic for parents of CF'ers. I wish you all the best.
Edited to add this article: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734751/pdf/v038p00777.pdf">lengthy article indicating a Class V mutation</a>
Once you click on the link, scroll down. I read your other posts - a Class V mutation is a reason for positivity! <img src="i/expressions/face-icon-small-smile.gif" border="0">
Hello - I am glad you found the mutations but I'm sorry it is a positive diagnosis.
<br />
<br />Regarding the C.3140-26A>G, it has a legacy name of 3272-26A>G. You might try googling the legacy name. For example, I found this article indicating that is possibly a "mild" disease-causing mutation: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ionchannels.org/showabstract.php?pmid=10425036">article</a>
<br />
<br />It is also often the case that the "milder" genotype controls the phenotype and leads to milder symptoms. I'm sure you've discovered that the DF508 is <i>not</i> considered a mild mutation. However I would caution you (and others will, as well) <b>that the same genes will cause different disease progression in different people,</b> so preventive care is important. Your CF care team at an accredited CF center will obviously be a good resource.
<br />
<br />This forum doesn't get much traffic for some reason, so I hope others will also respond. The Families section gets the most traffic for parents of CF'ers. I wish you all the best.
<br />
<br />Edited to add this article: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734751/pdf/v038p00777.pdf">lengthy article indicating a Class V mutation</a>
<br />Once you click on the link, scroll down. I read your other posts - a Class V mutation is a reason for positivity! <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />
<br />Regarding the C.3140-26A>G, it has a legacy name of 3272-26A>G. You might try googling the legacy name. For example, I found this article indicating that is possibly a "mild" disease-causing mutation: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ionchannels.org/showabstract.php?pmid=10425036">article</a>
<br />
<br />It is also often the case that the "milder" genotype controls the phenotype and leads to milder symptoms. I'm sure you've discovered that the DF508 is <i>not</i> considered a mild mutation. However I would caution you (and others will, as well) <b>that the same genes will cause different disease progression in different people,</b> so preventive care is important. Your CF care team at an accredited CF center will obviously be a good resource.
<br />
<br />This forum doesn't get much traffic for some reason, so I hope others will also respond. The Families section gets the most traffic for parents of CF'ers. I wish you all the best.
<br />
<br />Edited to add this article: <a target=_blank class=ftalternatingbarlinklarge href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734751/pdf/v038p00777.pdf">lengthy article indicating a Class V mutation</a>
<br />Once you click on the link, scroll down. I read your other posts - a Class V mutation is a reason for positivity! <img src="i/expressions/face-icon-small-smile.gif" border="0">
Thanks, I appreciate the reply and I'll look into those two websites. I not entirely positive what the different Classes of mutations are but hopefully either the websites or doctors might be able to help with that. I did know the DF508 is the most negative one and we have heard that there are different levels for different people even with the same mutation and so on. Nonetheless, thanks for the help.
Thanks, I appreciate the reply and I'll look into those two websites. I not entirely positive what the different Classes of mutations are but hopefully either the websites or doctors might be able to help with that. I did know the DF508 is the most negative one and we have heard that there are different levels for different people even with the same mutation and so on. Nonetheless, thanks for the help.
Thanks, I appreciate the reply and I'll look into those two websites. I not entirely positive what the different Classes of mutations are but hopefully either the websites or doctors might be able to help with that. I did know the DF508 is the most negative one and we have heard that there are different levels for different people even with the same mutation and so on. Nonetheless, thanks for the help.
Tinkerbellxxxxxxxxx
New member
Hi there, my daughter of 5 months has this Genotype! So far pancreaticsufficientand well. I see this is an old post, but i hope you might still get email notifications. Would be nice to keep in touch <img src="i/expressions/face-icon-small-smile.gif" border="0">
Tinkerbellxxxxxxxxx
New member
Hi there, my daughter of 5 months has this Genotype! So far pancreaticsufficientand well. I see this is an old post, but i hope you might still get email notifications. Would be nice to keep in touch <img src="i/expressions/face-icon-small-smile.gif" border="0">
Tinkerbellxxxxxxxxx
New member
Hi there, my daughter of 5 months has this Genotype! So far pancreaticsufficientand well. I see this is an old post, but i hope you might still get email notifications. Would be nice to keep in touch <img src="i/expressions/face-icon-small-smile.gif" border="0">
Hello all, hope everything is well.<br><br>If it helps, I am almost 34 years old and have CF with that exact mutation. While this may not be the case for everyone with this mutation, the disease has been *extremely* mild for me. So mild, in fact, that I rarely feel like I have CF.<br><br>To this day, I regularly hit 94% expected on PFTs and have never been hospitalized for pneumonia or any other lung infection. I do get infections from time to time but they go away quickly with antibiotics. About the only thing that occurs is that I get asthma like effects at times, but nothing major. In fact, I regularly run 4-6 miles non stop. <br><br>I do culture out staph on a regular basis, and just a few years ago I
cultured out pseudomonas. However, it comes and goes after time with
TOBI. Again, I haven't developed pneumonia at all.<br><br>I am pancreatic sufficient and only once had an issue. About two years ago I was hospitalized for pancreatitis. I woke up one night with pains in my abdomen and the next day they admitted me. After a couple of days with only IV and no food, the pancreatitis cleared up on its own. I was only in the hospital for about 4 days. I haven't had a reoccurence since (knock on wood).<br><br>Not sure if this is just a factor of my mutation, where I live or other genes, but I will say that my case is the mildest that my doctors have seen. During the first 30 years of my life I will have to say that I rarely felt ANY effects from CF. It wasn't until I hit 30 that I started getting more *subtle* reminders, but even then, they are very, very manageable and hardly effect my day to day. However, I think even people without CF start to notice more and more "reminders" of our age after 30.<br><br>Hope this helps.<br>
cultured out pseudomonas. However, it comes and goes after time with
TOBI. Again, I haven't developed pneumonia at all.<br><br>I am pancreatic sufficient and only once had an issue. About two years ago I was hospitalized for pancreatitis. I woke up one night with pains in my abdomen and the next day they admitted me. After a couple of days with only IV and no food, the pancreatitis cleared up on its own. I was only in the hospital for about 4 days. I haven't had a reoccurence since (knock on wood).<br><br>Not sure if this is just a factor of my mutation, where I live or other genes, but I will say that my case is the mildest that my doctors have seen. During the first 30 years of my life I will have to say that I rarely felt ANY effects from CF. It wasn't until I hit 30 that I started getting more *subtle* reminders, but even then, they are very, very manageable and hardly effect my day to day. However, I think even people without CF start to notice more and more "reminders" of our age after 30.<br><br>Hope this helps.<br>
Hello all, hope everything is well.<br><br>If it helps, I am almost 34 years old and have CF with that exact mutation. While this may not be the case for everyone with this mutation, the disease has been *extremely* mild for me. So mild, in fact, that I rarely feel like I have CF.<br><br>To this day, I regularly hit 94% expected on PFTs and have never been hospitalized for pneumonia or any other lung infection. I do get infections from time to time but they go away quickly with antibiotics. About the only thing that occurs is that I get asthma like effects at times, but nothing major. In fact, I regularly run 4-6 miles non stop. <br><br>I do culture out staph on a regular basis, and just a few years ago I
cultured out pseudomonas. However, it comes and goes after time with
TOBI. Again, I haven't developed pneumonia at all.<br><br>I am pancreatic sufficient and only once had an issue. About two years ago I was hospitalized for pancreatitis. I woke up one night with pains in my abdomen and the next day they admitted me. After a couple of days with only IV and no food, the pancreatitis cleared up on its own. I was only in the hospital for about 4 days. I haven't had a reoccurence since (knock on wood).<br><br>Not sure if this is just a factor of my mutation, where I live or other genes, but I will say that my case is the mildest that my doctors have seen. During the first 30 years of my life I will have to say that I rarely felt ANY effects from CF. It wasn't until I hit 30 that I started getting more *subtle* reminders, but even then, they are very, very manageable and hardly effect my day to day. However, I think even people without CF start to notice more and more "reminders" of our age after 30.<br><br>Hope this helps.<br>
cultured out pseudomonas. However, it comes and goes after time with
TOBI. Again, I haven't developed pneumonia at all.<br><br>I am pancreatic sufficient and only once had an issue. About two years ago I was hospitalized for pancreatitis. I woke up one night with pains in my abdomen and the next day they admitted me. After a couple of days with only IV and no food, the pancreatitis cleared up on its own. I was only in the hospital for about 4 days. I haven't had a reoccurence since (knock on wood).<br><br>Not sure if this is just a factor of my mutation, where I live or other genes, but I will say that my case is the mildest that my doctors have seen. During the first 30 years of my life I will have to say that I rarely felt ANY effects from CF. It wasn't until I hit 30 that I started getting more *subtle* reminders, but even then, they are very, very manageable and hardly effect my day to day. However, I think even people without CF start to notice more and more "reminders" of our age after 30.<br><br>Hope this helps.<br>
Hello all, hope everything is well.<br><br>If it helps, I am almost 34 years old and have CF with that exact mutation. While this may not be the case for everyone with this mutation, the disease has been *extremely* mild for me. So mild, in fact, that I rarely feel like I have CF.<br><br>To this day, I regularly hit 94% expected on PFTs and have never been hospitalized for pneumonia or any other lung infection. I do get infections from time to time but they go away quickly with antibiotics. About the only thing that occurs is that I get asthma like effects at times, but nothing major. In fact, I regularly run 4-6 miles non stop. <br><br>I do culture out staph on a regular basis, and just a few years ago I
cultured out pseudomonas. However, it comes and goes after time with
TOBI. Again, I haven't developed pneumonia at all.<br><br>I am pancreatic sufficient and only once had an issue. About two years ago I was hospitalized for pancreatitis. I woke up one night with pains in my abdomen and the next day they admitted me. After a couple of days with only IV and no food, the pancreatitis cleared up on its own. I was only in the hospital for about 4 days. I haven't had a reoccurence since (knock on wood).<br><br>Not sure if this is just a factor of my mutation, where I live or other genes, but I will say that my case is the mildest that my doctors have seen. During the first 30 years of my life I will have to say that I rarely felt ANY effects from CF. It wasn't until I hit 30 that I started getting more *subtle* reminders, but even then, they are very, very manageable and hardly effect my day to day. However, I think even people without CF start to notice more and more "reminders" of our age after 30.<br><br>Hope this helps.<br>
cultured out pseudomonas. However, it comes and goes after time with
TOBI. Again, I haven't developed pneumonia at all.<br><br>I am pancreatic sufficient and only once had an issue. About two years ago I was hospitalized for pancreatitis. I woke up one night with pains in my abdomen and the next day they admitted me. After a couple of days with only IV and no food, the pancreatitis cleared up on its own. I was only in the hospital for about 4 days. I haven't had a reoccurence since (knock on wood).<br><br>Not sure if this is just a factor of my mutation, where I live or other genes, but I will say that my case is the mildest that my doctors have seen. During the first 30 years of my life I will have to say that I rarely felt ANY effects from CF. It wasn't until I hit 30 that I started getting more *subtle* reminders, but even then, they are very, very manageable and hardly effect my day to day. However, I think even people without CF start to notice more and more "reminders" of our age after 30.<br><br>Hope this helps.<br>
Tinkerbellxxxxxxxxx
New member
That helps more than yourealize, reading your post made my day! I know nothing is sure, but so far my Lily is doing unbelievably well. I so hope she is the same as you and continues to be one of the healthiest CF patients on their books. Thanks so much for taking the time to reply to this thread, means the world to me as I'm sure it will the original poster if they come back. Lily is pancreaticsufficient, but suffers with her bowel motions - she finds it hard to pass them and they are not as frequent as you would expect from a baby at all. She also suffers from reflux - like bad heartburn and regurgitation in a baby, which they tell me is associated with CF. She also becomes easily dehydrated, and has nasal symptoms frequently in the absence of infection. All very very mildcompairedwith the lung and pancreatic problems associated with CF, but wondered if you had any experience with such things with this genotype.<br>If you would like to keep in touch my email is JGreen095@aol.com, would be great to see how your getting on. I myself am being tested for CF now, they have a hunch I might have it as I have has the same symptoms as Lily all my life and if it is a very mild genotype It may be possible I suffer also. I'm 32 x
Tinkerbellxxxxxxxxx
New member
That helps more than yourealize, reading your post made my day! I know nothing is sure, but so far my Lily is doing unbelievably well. I so hope she is the same as you and continues to be one of the healthiest CF patients on their books. Thanks so much for taking the time to reply to this thread, means the world to me as I'm sure it will the original poster if they come back. Lily is pancreaticsufficient, but suffers with her bowel motions - she finds it hard to pass them and they are not as frequent as you would expect from a baby at all. She also suffers from reflux - like bad heartburn and regurgitation in a baby, which they tell me is associated with CF. She also becomes easily dehydrated, and has nasal symptoms frequently in the absence of infection. All very very mildcompairedwith the lung and pancreatic problems associated with CF, but wondered if you had any experience with such things with this genotype.<br>If you would like to keep in touch my email is JGreen095@aol.com, would be great to see how your getting on. I myself am being tested for CF now, they have a hunch I might have it as I have has the same symptoms as Lily all my life and if it is a very mild genotype It may be possible I suffer also. I'm 32 x