Another CF Mutation Found In Our Family

holmfamily1992 · May 30, 2008

I was speeking with my husbands cousin the other day we finally found out which side of my husbands family it comes from. BUT, its not the same mutation as what my son has. Dylan carries the R117H and Delta F508 was diagnosed within my husbands family.

So we could possible have 2 mutations one from each of us. Dylan was negative for the Delta 508 but I found out that Ambry must run a full panel to make sure that mutation doesnt show up in our other kids. All this genetic mumbo jumbo is very hard to understand. But I think they need to look at my husband gene panel to find out if he carries the 508 or not. They didnt run a full panel on us because they only new the one. That would determine if my other children will have any chance of having both mutations.

Is it more common for CFers to have more then one mutation??

PS. He had his first glucous tolorence test yesterday. Still waiting on the results.

Tina

<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">

holmfamily1992 · May 30, 2008

I was speeking with my husbands cousin the other day we finally found out which side of my husbands family it comes from. BUT, its not the same mutation as what my son has. Dylan carries the R117H and Delta F508 was diagnosed within my husbands family.

So we could possible have 2 mutations one from each of us. Dylan was negative for the Delta 508 but I found out that Ambry must run a full panel to make sure that mutation doesnt show up in our other kids. All this genetic mumbo jumbo is very hard to understand. But I think they need to look at my husband gene panel to find out if he carries the 508 or not. They didnt run a full panel on us because they only new the one. That would determine if my other children will have any chance of having both mutations.

Is it more common for CFers to have more then one mutation??

PS. He had his first glucous tolorence test yesterday. Still waiting on the results.

Tina

<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">

holmfamily1992 · May 30, 2008

I was speeking with my husbands cousin the other day we finally found out which side of my husbands family it comes from. BUT, its not the same mutation as what my son has. Dylan carries the R117H and Delta F508 was diagnosed within my husbands family.

So we could possible have 2 mutations one from each of us. Dylan was negative for the Delta 508 but I found out that Ambry must run a full panel to make sure that mutation doesnt show up in our other kids. All this genetic mumbo jumbo is very hard to understand. But I think they need to look at my husband gene panel to find out if he carries the 508 or not. They didnt run a full panel on us because they only new the one. That would determine if my other children will have any chance of having both mutations.

Is it more common for CFers to have more then one mutation??

PS. He had his first glucous tolorence test yesterday. Still waiting on the results.

Tina

<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">

holmfamily1992 · May 30, 2008

I was speeking with my husbands cousin the other day we finally found out which side of my husbands family it comes from. BUT, its not the same mutation as what my son has. Dylan carries the R117H and Delta F508 was diagnosed within my husbands family.

So we could possible have 2 mutations one from each of us. Dylan was negative for the Delta 508 but I found out that Ambry must run a full panel to make sure that mutation doesnt show up in our other kids. All this genetic mumbo jumbo is very hard to understand. But I think they need to look at my husband gene panel to find out if he carries the 508 or not. They didnt run a full panel on us because they only new the one. That would determine if my other children will have any chance of having both mutations.

Is it more common for CFers to have more then one mutation??

PS. He had his first glucous tolorence test yesterday. Still waiting on the results.

Tina

<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">

holmfamily1992 · May 30, 2008

I was speeking with my husbands cousin the other day we finally found out which side of my husbands family it comes from. BUT, its not the same mutation as what my son has. Dylan carries the R117H and Delta F508 was diagnosed within my husbands family.
 
 So we could possible have 2 mutations one from each of us. Dylan was negative for the Delta 508 but I found out that Ambry must run a full panel to make sure that mutation doesnt show up in our other kids. All this genetic mumbo jumbo is very hard to understand. But I think they need to look at my husband gene panel to find out if he carries the 508 or not. They didnt run a full panel on us because they only new the one. That would determine if my other children will have any chance of having both mutations.
 
 Is it more common for CFers to have more then one mutation??
 
 PS. He had his first glucous tolorence test yesterday. Still waiting on the results.
 
 Tina
 
 <img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">

just1more · May 30, 2008

To answer the quick part first, in order to have "CF" you must have 2 mutations. If you have a child with CF they would have gotten one from each of you, making you both at least carriers (1 mutation instead of 2).

As for which ones, DF508 is the most common mutation found in caucasions (~60% I believe), and should be caught on any CF test, even the smaller panels. However, some of the other mutations are harder to find, and since there are over 1500 you never know what you will find.

There are some with 2 of the same mutation, such as our son, who got the same defect from both parents. There are quite a few on here with 2-DF508 mutations.

Regardless, they need to check everyone. If they can ID your's & your husbands mutations, then they can check the kids just for those, or they can just run the Ambry on all the kids, not sure which is cheaper/simpler???

just1more · May 30, 2008

To answer the quick part first, in order to have "CF" you must have 2 mutations. If you have a child with CF they would have gotten one from each of you, making you both at least carriers (1 mutation instead of 2).

As for which ones, DF508 is the most common mutation found in caucasions (~60% I believe), and should be caught on any CF test, even the smaller panels. However, some of the other mutations are harder to find, and since there are over 1500 you never know what you will find.

There are some with 2 of the same mutation, such as our son, who got the same defect from both parents. There are quite a few on here with 2-DF508 mutations.

Regardless, they need to check everyone. If they can ID your's & your husbands mutations, then they can check the kids just for those, or they can just run the Ambry on all the kids, not sure which is cheaper/simpler???

just1more · May 30, 2008

To answer the quick part first, in order to have "CF" you must have 2 mutations. If you have a child with CF they would have gotten one from each of you, making you both at least carriers (1 mutation instead of 2).

As for which ones, DF508 is the most common mutation found in caucasions (~60% I believe), and should be caught on any CF test, even the smaller panels. However, some of the other mutations are harder to find, and since there are over 1500 you never know what you will find.

There are some with 2 of the same mutation, such as our son, who got the same defect from both parents. There are quite a few on here with 2-DF508 mutations.

Regardless, they need to check everyone. If they can ID your's & your husbands mutations, then they can check the kids just for those, or they can just run the Ambry on all the kids, not sure which is cheaper/simpler???

just1more · May 30, 2008

To answer the quick part first, in order to have "CF" you must have 2 mutations. If you have a child with CF they would have gotten one from each of you, making you both at least carriers (1 mutation instead of 2).

As for which ones, DF508 is the most common mutation found in caucasions (~60% I believe), and should be caught on any CF test, even the smaller panels. However, some of the other mutations are harder to find, and since there are over 1500 you never know what you will find.

There are some with 2 of the same mutation, such as our son, who got the same defect from both parents. There are quite a few on here with 2-DF508 mutations.

Regardless, they need to check everyone. If they can ID your's & your husbands mutations, then they can check the kids just for those, or they can just run the Ambry on all the kids, not sure which is cheaper/simpler???

just1more · May 30, 2008

To answer the quick part first, in order to have "CF" you must have 2 mutations. If you have a child with CF they would have gotten one from each of you, making you both at least carriers (1 mutation instead of 2).
 
 As for which ones, DF508 is the most common mutation found in caucasions (~60% I believe), and should be caught on any CF test, even the smaller panels. However, some of the other mutations are harder to find, and since there are over 1500 you never know what you will find.
 
 There are some with 2 of the same mutation, such as our son, who got the same defect from both parents. There are quite a few on here with 2-DF508 mutations.
 
 Regardless, they need to check everyone. If they can ID your's & your husbands mutations, then they can check the kids just for those, or they can just run the Ambry on all the kids, not sure which is cheaper/simpler???

holmfamily1992 · May 30, 2008

They never found 2 mutation in my son. What they did find and Im not sure if its concidered a mutation is this,

Mutation R117H
with 12-5T and 10-7T variant.

All I can understand is that I carry the R11H and my husband has the variants. That is how he was diagnosed. Ambry told me that they would only look for that mutation when testing our other chilren since nothing else showed up on his test results. But now we have the Delta F508 in our family. So now they will have to do a full panel on the other kids. Steve told me that normally mutations dont change so the Delta F508 may still be present in the other kids. Ambry did not run a full panel on my husband and I either. So they may have to do that with my husbands blood now that they found the other mutation. If they would have run full panel on my husband then they may find the Delta F508. Genetics said that this was a very hard case to crack. But testing is the Key. Now if I can get my clinic to do their job we would be great!!

Tina

<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">

holmfamily1992 · May 30, 2008

They never found 2 mutation in my son. What they did find and Im not sure if its concidered a mutation is this,

Mutation R117H
with 12-5T and 10-7T variant.

All I can understand is that I carry the R11H and my husband has the variants. That is how he was diagnosed. Ambry told me that they would only look for that mutation when testing our other chilren since nothing else showed up on his test results. But now we have the Delta F508 in our family. So now they will have to do a full panel on the other kids. Steve told me that normally mutations dont change so the Delta F508 may still be present in the other kids. Ambry did not run a full panel on my husband and I either. So they may have to do that with my husbands blood now that they found the other mutation. If they would have run full panel on my husband then they may find the Delta F508. Genetics said that this was a very hard case to crack. But testing is the Key. Now if I can get my clinic to do their job we would be great!!

Tina

<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">

holmfamily1992 · May 30, 2008

They never found 2 mutation in my son. What they did find and Im not sure if its concidered a mutation is this,

Mutation R117H
with 12-5T and 10-7T variant.

All I can understand is that I carry the R11H and my husband has the variants. That is how he was diagnosed. Ambry told me that they would only look for that mutation when testing our other chilren since nothing else showed up on his test results. But now we have the Delta F508 in our family. So now they will have to do a full panel on the other kids. Steve told me that normally mutations dont change so the Delta F508 may still be present in the other kids. Ambry did not run a full panel on my husband and I either. So they may have to do that with my husbands blood now that they found the other mutation. If they would have run full panel on my husband then they may find the Delta F508. Genetics said that this was a very hard case to crack. But testing is the Key. Now if I can get my clinic to do their job we would be great!!

Tina

<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">

holmfamily1992 · May 30, 2008

They never found 2 mutation in my son. What they did find and Im not sure if its concidered a mutation is this,

Mutation R117H
with 12-5T and 10-7T variant.

All I can understand is that I carry the R11H and my husband has the variants. That is how he was diagnosed. Ambry told me that they would only look for that mutation when testing our other chilren since nothing else showed up on his test results. But now we have the Delta F508 in our family. So now they will have to do a full panel on the other kids. Steve told me that normally mutations dont change so the Delta F508 may still be present in the other kids. Ambry did not run a full panel on my husband and I either. So they may have to do that with my husbands blood now that they found the other mutation. If they would have run full panel on my husband then they may find the Delta F508. Genetics said that this was a very hard case to crack. But testing is the Key. Now if I can get my clinic to do their job we would be great!!

Tina

<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">

holmfamily1992 · May 30, 2008

They never found 2 mutation in my son. What they did find and Im not sure if its concidered a mutation is this,
 
 Mutation R117H
 with 12-5T and 10-7T variant.
 
 All I can understand is that I carry the R11H and my husband has the variants. That is how he was diagnosed. Ambry told me that they would only look for that mutation when testing our other chilren since nothing else showed up on his test results. But now we have the Delta F508 in our family. So now they will have to do a full panel on the other kids. Steve told me that normally mutations dont change so the Delta F508 may still be present in the other kids. Ambry did not run a full panel on my husband and I either. So they may have to do that with my husbands blood now that they found the other mutation. If they would have run full panel on my husband then they may find the Delta F508. Genetics said that this was a very hard case to crack. But testing is the Key. Now if I can get my clinic to do their job we would be great!!
 
 Tina
 
 <img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">

LouLou · May 30, 2008

It is not unheard of for cfers to have more than two. I know of a handful on this site. Keep in mind that many people haven't been genetically tested all that extensively. Most of those diagnosed on this site were positive sweat test. With your family's scenario, size I mean, it may be more cost effective to only do extensive panels on you and dh. This way anything the kids may have will show up and then only selective testing can be done on the kids. I defintely wouldn't agree to selective testing only based on what was found in your son because you or your husband could have 2 mutations and not even know it. By the way, 2 mutations does not always warrant a cf diagnosis as is the case with my son.

LouLou · May 30, 2008

It is not unheard of for cfers to have more than two. I know of a handful on this site. Keep in mind that many people haven't been genetically tested all that extensively. Most of those diagnosed on this site were positive sweat test. With your family's scenario, size I mean, it may be more cost effective to only do extensive panels on you and dh. This way anything the kids may have will show up and then only selective testing can be done on the kids. I defintely wouldn't agree to selective testing only based on what was found in your son because you or your husband could have 2 mutations and not even know it. By the way, 2 mutations does not always warrant a cf diagnosis as is the case with my son.

LouLou · May 30, 2008

It is not unheard of for cfers to have more than two. I know of a handful on this site. Keep in mind that many people haven't been genetically tested all that extensively. Most of those diagnosed on this site were positive sweat test. With your family's scenario, size I mean, it may be more cost effective to only do extensive panels on you and dh. This way anything the kids may have will show up and then only selective testing can be done on the kids. I defintely wouldn't agree to selective testing only based on what was found in your son because you or your husband could have 2 mutations and not even know it. By the way, 2 mutations does not always warrant a cf diagnosis as is the case with my son.

LouLou · May 30, 2008

It is not unheard of for cfers to have more than two. I know of a handful on this site. Keep in mind that many people haven't been genetically tested all that extensively. Most of those diagnosed on this site were positive sweat test. With your family's scenario, size I mean, it may be more cost effective to only do extensive panels on you and dh. This way anything the kids may have will show up and then only selective testing can be done on the kids. I defintely wouldn't agree to selective testing only based on what was found in your son because you or your husband could have 2 mutations and not even know it. By the way, 2 mutations does not always warrant a cf diagnosis as is the case with my son.

LouLou · May 30, 2008

It is not unheard of for cfers to have more than two. I know of a handful on this site. Keep in mind that many people haven't been genetically tested all that extensively. Most of those diagnosed on this site were positive sweat test. With your family's scenario, size I mean, it may be more cost effective to only do extensive panels on you and dh. This way anything the kids may have will show up and then only selective testing can be done on the kids. I defintely wouldn't agree to selective testing only based on what was found in your son because you or your husband could have 2 mutations and not even know it. By the way, 2 mutations does not always warrant a cf diagnosis as is the case with my son.

Another CF Mutation Found In Our Family

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