My son was found having mutations F508 and 711 3A>G after a dehydration episode when he was 12 months old. He is now 8, and the only symptoms that he has had are a few episodes of bronchitis. His sweat test varied from 42-59. Is this a mild form of cystic fibosis? Is there any information on the progress of patients with these mutations? I can't seem to find information on the second mutation.
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F508& 711 3A>G
- Thread starter ES
- Start date
My son was found having mutations F508 and 711 3A>G after a dehydration episode when he was 12 months old. He is now 8, and the only symptoms that he has had are a few episodes of bronchitis. His sweat test varied from 42-59. Is this a mild form of cystic fibosis? Is there any information on the progress of patients with these mutations? I can't seem to find information on the second mutation.
My son was found having mutations F508 and 711 3A>G after a dehydration episode when he was 12 months old. He is now 8, and the only symptoms that he has had are a few episodes of bronchitis. His sweat test varied from 42-59. Is this a mild form of cystic fibosis? Is there any information on the progress of patients with these mutations? I can't seem to find information on the second mutation.
M
Mommafirst
Guest
You may be able to post on the Ambry board for Steve's imput.
Here's what I found...
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=132
">http://www.genet.sickkids.on.c...lPage.external?sp=132
</a>
711+3A->G
Region intron 5
Other Details This mutation was identified by SSCP and direct sequencing. This was detected in two out of 23 unrelated CF families of Albanian origin, giving a frequency of 4.3% among Albanian population. BOth patients carry the [delta]F508 mutation on the other CF chromosome.
From what I'm seeing, its looks like its considered "classic" CF. I'm glad your son is doing so well, and hope he continues to do so. I have a friend who is in his late 40's with double delta F508 and he's got very minimal symptoms still -- but his brother died at age 14 and was very ill all his life.
Here's what I found...
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=132
">http://www.genet.sickkids.on.c...lPage.external?sp=132
</a>
711+3A->G
Region intron 5
Other Details This mutation was identified by SSCP and direct sequencing. This was detected in two out of 23 unrelated CF families of Albanian origin, giving a frequency of 4.3% among Albanian population. BOth patients carry the [delta]F508 mutation on the other CF chromosome.
From what I'm seeing, its looks like its considered "classic" CF. I'm glad your son is doing so well, and hope he continues to do so. I have a friend who is in his late 40's with double delta F508 and he's got very minimal symptoms still -- but his brother died at age 14 and was very ill all his life.
M
Mommafirst
Guest
You may be able to post on the Ambry board for Steve's imput.
Here's what I found...
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=132
">http://www.genet.sickkids.on.c...lPage.external?sp=132
</a>
711+3A->G
Region intron 5
Other Details This mutation was identified by SSCP and direct sequencing. This was detected in two out of 23 unrelated CF families of Albanian origin, giving a frequency of 4.3% among Albanian population. BOth patients carry the [delta]F508 mutation on the other CF chromosome.
From what I'm seeing, its looks like its considered "classic" CF. I'm glad your son is doing so well, and hope he continues to do so. I have a friend who is in his late 40's with double delta F508 and he's got very minimal symptoms still -- but his brother died at age 14 and was very ill all his life.
Here's what I found...
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=132
">http://www.genet.sickkids.on.c...lPage.external?sp=132
</a>
711+3A->G
Region intron 5
Other Details This mutation was identified by SSCP and direct sequencing. This was detected in two out of 23 unrelated CF families of Albanian origin, giving a frequency of 4.3% among Albanian population. BOth patients carry the [delta]F508 mutation on the other CF chromosome.
From what I'm seeing, its looks like its considered "classic" CF. I'm glad your son is doing so well, and hope he continues to do so. I have a friend who is in his late 40's with double delta F508 and he's got very minimal symptoms still -- but his brother died at age 14 and was very ill all his life.
M
Mommafirst
Guest
You may be able to post on the Ambry board for Steve's imput.
<br />
<br />Here's what I found...
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=132
">http://www.genet.sickkids.on.c...lPage.external?sp=132
</a><br />
<br />711+3A->G
<br />Region intron 5
<br />Other Details This mutation was identified by SSCP and direct sequencing. This was detected in two out of 23 unrelated CF families of Albanian origin, giving a frequency of 4.3% among Albanian population. BOth patients carry the [delta]F508 mutation on the other CF chromosome.
<br />
<br />
<br />
<br />
<br />From what I'm seeing, its looks like its considered "classic" CF. I'm glad your son is doing so well, and hope he continues to do so. I have a friend who is in his late 40's with double delta F508 and he's got very minimal symptoms still -- but his brother died at age 14 and was very ill all his life.
<br />
<br />Here's what I found...
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=132
">http://www.genet.sickkids.on.c...lPage.external?sp=132
</a><br />
<br />711+3A->G
<br />Region intron 5
<br />Other Details This mutation was identified by SSCP and direct sequencing. This was detected in two out of 23 unrelated CF families of Albanian origin, giving a frequency of 4.3% among Albanian population. BOth patients carry the [delta]F508 mutation on the other CF chromosome.
<br />
<br />
<br />
<br />
<br />From what I'm seeing, its looks like its considered "classic" CF. I'm glad your son is doing so well, and hope he continues to do so. I have a friend who is in his late 40's with double delta F508 and he's got very minimal symptoms still -- but his brother died at age 14 and was very ill all his life.
A
ABray
Guest
Hi,
I have seven month old twins who have been identified as having F508 and 711+3A->G. I have not been able to find any information on it either. Did you end up finding any information on it? I'm told that we are the only case in Australia.
Thanks
I have seven month old twins who have been identified as having F508 and 711+3A->G. I have not been able to find any information on it either. Did you end up finding any information on it? I'm told that we are the only case in Australia.
Thanks
A
ABray
Guest
Hi,
I have seven month old twins who have been identified as having F508 and 711+3A->G. I have not been able to find any information on it either. Did you end up finding any information on it? I'm told that we are the only case in Australia.
Thanks
I have seven month old twins who have been identified as having F508 and 711+3A->G. I have not been able to find any information on it either. Did you end up finding any information on it? I'm told that we are the only case in Australia.
Thanks
PATRYCJA81
New member
I'm from Poland we have the same mutation, information please if your son has any symptoms of CF now?
PATRYCJA81
New member
I'm from Poland we have the same mutation or your twins has any symptoms of CF now? anywhere there is no information about the mutation