If anyone has any experience with a mutation called C812T>G, we're hoping to find out more information. Apparently it also goes by 741T>G AND 680T>G (?). Though we don't know it's possible for it to have three names. So I guess, separately, does that make any sense to anyone? We've tried finding out more information from our genetist, but it hasn't been a totally helpful experience. So, anyone with any thoughts on the best approach to researching mutations with professionals, or in other ways? I know nothing we find out will be definitive as to our son's future, but just trying to get a better handle on what we can know.
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help with understanding mutations
- Thread starter jodad
- Start date
If anyone has any experience with a mutation called C812T>G, we're hoping to find out more information. Apparently it also goes by 741T>G AND 680T>G (?). Though we don't know it's possible for it to have three names. So I guess, separately, does that make any sense to anyone? We've tried finding out more information from our genetist, but it hasn't been a totally helpful experience. So, anyone with any thoughts on the best approach to researching mutations with professionals, or in other ways? I know nothing we find out will be definitive as to our son's future, but just trying to get a better handle onwhat we can know.
<p>If anyone has any experience with a mutation called C812T>G, we're hoping to find out more information. <br /><br />Apparently it also goes by 741T>G AND 680T>G (?). Though we don't know it's possible for it to have three names. So I guess, separately, does that make any sense to anyone? <br /><br />We've tried finding out more information from our genetist, but it hasn't been a totally helpful experience. So, anyone with any thoughts on the best approach to researching mutations with professionals, or in other ways? I know nothing we find out will be definitive as to our son's future, but just trying to get a better handle onwhat we can know.
M
Mommafirst
Guest
Here's what I found from www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1 , it looks like a mutation that is pretty "classic" CF:
Mutation Details for c.-812T>G
cDNA Name c.-812T>G
Exon or Intron promoter
Legacy Exon or Intron promoter and 5' UTR
Legacy Name -741T->G
Other Details This mutation was detected by DGGE using chemical clamps and identified by direct sequencing: T->G at -741 from the cap site. This mutation is located in a potential Ap-1 binding site. This mutation can easily be detected by restriction enzyme digestion, as it destorys an Hph I site. This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. This patient has a [delta]F508 mutation on the other chromosome. The patient is insufficient pancreatic, presents a moderate from and cirrhosis.
Contributors Bienvenu T, Cazaneuve C, Kaplan JC, Beldjor C 1993-10-08
Institute Hopitaux de Paris Paris, France
Submitted Phenotype Details The mutation was identified in a 22 male CF patient with cirrhosis, diagnosed at 3 months of age, PI, with positive sweat chloride, moderate pulmonary disease with Pseudomonas Aeruginosa colonization. He carries deltaF508 on the other allele. (pers. corr. Bienvenu)
Reference Bienvenu et al. (NL#59)
Mutation Details for c.-812T>G
cDNA Name c.-812T>G
Exon or Intron promoter
Legacy Exon or Intron promoter and 5' UTR
Legacy Name -741T->G
Other Details This mutation was detected by DGGE using chemical clamps and identified by direct sequencing: T->G at -741 from the cap site. This mutation is located in a potential Ap-1 binding site. This mutation can easily be detected by restriction enzyme digestion, as it destorys an Hph I site. This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. This patient has a [delta]F508 mutation on the other chromosome. The patient is insufficient pancreatic, presents a moderate from and cirrhosis.
Contributors Bienvenu T, Cazaneuve C, Kaplan JC, Beldjor C 1993-10-08
Institute Hopitaux de Paris Paris, France
Submitted Phenotype Details The mutation was identified in a 22 male CF patient with cirrhosis, diagnosed at 3 months of age, PI, with positive sweat chloride, moderate pulmonary disease with Pseudomonas Aeruginosa colonization. He carries deltaF508 on the other allele. (pers. corr. Bienvenu)
Reference Bienvenu et al. (NL#59)
M
Mommafirst
Guest
Here's what I found from www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1 , it looks like a mutation that is pretty "classic" CF:
Mutation Details for c.-812T>G
cDNA Name c.-812T>G
Exon or Intron promoter
Legacy Exon or Intron promoter and 5' UTR
Legacy Name -741T->G
Other Details This mutation was detected by DGGE using chemical clamps and identified by direct sequencing: T->G at -741 from the cap site. This mutation is located in a potential Ap-1 binding site. This mutation can easily be detected by restriction enzyme digestion, as it destorys an Hph I site. This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. This patient has a [delta]F508 mutation on the other chromosome. The patient is insufficient pancreatic, presents a moderate from and cirrhosis.
Contributors Bienvenu T, Cazaneuve C, Kaplan JC, Beldjor C 1993-10-08
Institute Hopitaux de Paris Paris, France
Submitted Phenotype Details The mutation was identified in a 22 male CF patient with cirrhosis, diagnosed at 3 months of age, PI, with positive sweat chloride, moderate pulmonary disease with Pseudomonas Aeruginosa colonization. He carries deltaF508 on the other allele. (pers. corr. Bienvenu)
Reference Bienvenu et al. (NL#59)
Mutation Details for c.-812T>G
cDNA Name c.-812T>G
Exon or Intron promoter
Legacy Exon or Intron promoter and 5' UTR
Legacy Name -741T->G
Other Details This mutation was detected by DGGE using chemical clamps and identified by direct sequencing: T->G at -741 from the cap site. This mutation is located in a potential Ap-1 binding site. This mutation can easily be detected by restriction enzyme digestion, as it destorys an Hph I site. This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. This patient has a [delta]F508 mutation on the other chromosome. The patient is insufficient pancreatic, presents a moderate from and cirrhosis.
Contributors Bienvenu T, Cazaneuve C, Kaplan JC, Beldjor C 1993-10-08
Institute Hopitaux de Paris Paris, France
Submitted Phenotype Details The mutation was identified in a 22 male CF patient with cirrhosis, diagnosed at 3 months of age, PI, with positive sweat chloride, moderate pulmonary disease with Pseudomonas Aeruginosa colonization. He carries deltaF508 on the other allele. (pers. corr. Bienvenu)
Reference Bienvenu et al. (NL#59)
M
Mommafirst
Guest
Here's what I found from www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1 , it looks like a mutation that is pretty "classic" CF:
<br />
<br />Mutation Details for c.-812T>G
<br />
<br />cDNA Name c.-812T>G
<br />Exon or Intron promoter
<br />Legacy Exon or Intron promoter and 5' UTR
<br />Legacy Name -741T->G
<br />Other Details This mutation was detected by DGGE using chemical clamps and identified by direct sequencing: T->G at -741 from the cap site. This mutation is located in a potential Ap-1 binding site. This mutation can easily be detected by restriction enzyme digestion, as it destorys an Hph I site. This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. This patient has a [delta]F508 mutation on the other chromosome. The patient is insufficient pancreatic, presents a moderate from and cirrhosis.
<br />
<br />Contributors Bienvenu T, Cazaneuve C, Kaplan JC, Beldjor C 1993-10-08
<br />
<br />Institute Hopitaux de Paris Paris, France
<br />
<br />Submitted Phenotype Details The mutation was identified in a 22 male CF patient with cirrhosis, diagnosed at 3 months of age, PI, with positive sweat chloride, moderate pulmonary disease with Pseudomonas Aeruginosa colonization. He carries deltaF508 on the other allele. (pers. corr. Bienvenu)
<br />Reference Bienvenu et al. (NL#59)
<br />
<br />Mutation Details for c.-812T>G
<br />
<br />cDNA Name c.-812T>G
<br />Exon or Intron promoter
<br />Legacy Exon or Intron promoter and 5' UTR
<br />Legacy Name -741T->G
<br />Other Details This mutation was detected by DGGE using chemical clamps and identified by direct sequencing: T->G at -741 from the cap site. This mutation is located in a potential Ap-1 binding site. This mutation can easily be detected by restriction enzyme digestion, as it destorys an Hph I site. This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. This patient has a [delta]F508 mutation on the other chromosome. The patient is insufficient pancreatic, presents a moderate from and cirrhosis.
<br />
<br />Contributors Bienvenu T, Cazaneuve C, Kaplan JC, Beldjor C 1993-10-08
<br />
<br />Institute Hopitaux de Paris Paris, France
<br />
<br />Submitted Phenotype Details The mutation was identified in a 22 male CF patient with cirrhosis, diagnosed at 3 months of age, PI, with positive sweat chloride, moderate pulmonary disease with Pseudomonas Aeruginosa colonization. He carries deltaF508 on the other allele. (pers. corr. Bienvenu)
<br />Reference Bienvenu et al. (NL#59)
it's paired in that one case with a delta f508. our son's other mutation is pretty clearly "mild" (you know, as far as that goes) based on a larger number of cases... our understanding is that there's (usually) a difference when two nonclassic mutations are paired together, versus a mild and classic.
it's paired in that one case with a delta f508. our son's other mutation is pretty clearly "mild" (you know, as far as that goes) based on a larger number of cases... our understanding is that there's (usually) a difference when two nonclassic mutations are paired together, versus a mild and classic.
it's paired in that one case with a delta f508. our son's other mutation is pretty clearly "mild" (you know, as far as that goes) based on a larger number of cases... our understanding is that there's (usually) a difference when two nonclassic mutations are paired together, versus a mild and classic.
M
Mommafirst
Guest
If his other one is a class IV or V (the CFTR functions more -- thus the "mild" you were told), then it is possible that the more mild one will allow some CFTR functioning and have less severity at least for the short run. Or at least this is what the doctors will say.
I want to caution against this way of thinking though. My daughter has one "severe" mutation (Class 1 -- nonsense mutation) and one "mild" mutation (Class IV mutation). While she is pancreatic sufficient and the doctors were thinking she might have an easier time of it, hoping that the "mild" mutation would control the CFTR functioning, she is 5 and has been hospitalized for lung issues 4 times. She also has a feeding tube because of failure to thrive issues, despite her pancreas function being ok. I'm not trying to bum you out or scare you, but I just was soooo devestated when it became clear that she was more "classic" then the docs led me to believe. There truly is no continuity with the theories behind mutation combinations and severity of the disease.
There was an article published just this past week talking about finding some modifier genes that may give a better indication to severity. But of course, this research is still too new.
I want to caution against this way of thinking though. My daughter has one "severe" mutation (Class 1 -- nonsense mutation) and one "mild" mutation (Class IV mutation). While she is pancreatic sufficient and the doctors were thinking she might have an easier time of it, hoping that the "mild" mutation would control the CFTR functioning, she is 5 and has been hospitalized for lung issues 4 times. She also has a feeding tube because of failure to thrive issues, despite her pancreas function being ok. I'm not trying to bum you out or scare you, but I just was soooo devestated when it became clear that she was more "classic" then the docs led me to believe. There truly is no continuity with the theories behind mutation combinations and severity of the disease.
There was an article published just this past week talking about finding some modifier genes that may give a better indication to severity. But of course, this research is still too new.
M
Mommafirst
Guest
If his other one is a class IV or V (the CFTR functions more -- thus the "mild" you were told), then it is possible that the more mild one will allow some CFTR functioning and have less severity at least for the short run. Or at least this is what the doctors will say.
I want to caution against this way of thinking though. My daughter has one "severe" mutation (Class 1 -- nonsense mutation) and one "mild" mutation (Class IV mutation). While she is pancreatic sufficient and the doctors were thinking she might have an easier time of it, hoping that the "mild" mutation would control the CFTR functioning, she is 5 and has been hospitalized for lung issues 4 times. She also has a feeding tube because of failure to thrive issues, despite her pancreas function being ok. I'm not trying to bum you out or scare you, but I just was soooo devestated when it became clear that she was more "classic" then the docs led me to believe. There truly is no continuity with the theories behind mutation combinations and severity of the disease.
There was an article published just this past week talking about finding some modifier genes that may give a better indication to severity. But of course, this research is still too new.
I want to caution against this way of thinking though. My daughter has one "severe" mutation (Class 1 -- nonsense mutation) and one "mild" mutation (Class IV mutation). While she is pancreatic sufficient and the doctors were thinking she might have an easier time of it, hoping that the "mild" mutation would control the CFTR functioning, she is 5 and has been hospitalized for lung issues 4 times. She also has a feeding tube because of failure to thrive issues, despite her pancreas function being ok. I'm not trying to bum you out or scare you, but I just was soooo devestated when it became clear that she was more "classic" then the docs led me to believe. There truly is no continuity with the theories behind mutation combinations and severity of the disease.
There was an article published just this past week talking about finding some modifier genes that may give a better indication to severity. But of course, this research is still too new.
M
Mommafirst
Guest
If his other one is a class IV or V (the CFTR functions more -- thus the "mild" you were told), then it is possible that the more mild one will allow some CFTR functioning and have less severity at least for the short run. Or at least this is what the doctors will say.
<br />
<br />I want to caution against this way of thinking though. My daughter has one "severe" mutation (Class 1 -- nonsense mutation) and one "mild" mutation (Class IV mutation). While she is pancreatic sufficient and the doctors were thinking she might have an easier time of it, hoping that the "mild" mutation would control the CFTR functioning, she is 5 and has been hospitalized for lung issues 4 times. She also has a feeding tube because of failure to thrive issues, despite her pancreas function being ok. I'm not trying to bum you out or scare you, but I just was soooo devestated when it became clear that she was more "classic" then the docs led me to believe. There truly is no continuity with the theories behind mutation combinations and severity of the disease.
<br />
<br />There was an article published just this past week talking about finding some modifier genes that may give a better indication to severity. But of course, this research is still too new.
<br />
<br />
<br />
<br />I want to caution against this way of thinking though. My daughter has one "severe" mutation (Class 1 -- nonsense mutation) and one "mild" mutation (Class IV mutation). While she is pancreatic sufficient and the doctors were thinking she might have an easier time of it, hoping that the "mild" mutation would control the CFTR functioning, she is 5 and has been hospitalized for lung issues 4 times. She also has a feeding tube because of failure to thrive issues, despite her pancreas function being ok. I'm not trying to bum you out or scare you, but I just was soooo devestated when it became clear that she was more "classic" then the docs led me to believe. There truly is no continuity with the theories behind mutation combinations and severity of the disease.
<br />
<br />There was an article published just this past week talking about finding some modifier genes that may give a better indication to severity. But of course, this research is still too new.
<br />
<br />
thanks mommafirst, and, of course, i'm sorry. yes, we know we need to not be assuming anything at this point. but we'd like to at least find out as much as we can, just because it's frustrating and scary to not be able to do so. seems like we're 90% sure son's first gene is class V, but the second one... no idea... seems like pairing "mild" genes is better than one of each type, even if of course you never can tell... we keep asking dr.s for some information about son's mutations but their answers are vauge, and it's hard to know where to look for more. yes, in the case above in sickkid database, it wasn't a good presentation, but it was paired with a more severe gene. so who knows if that was just the severe gene talking! our genetic counselor said she talked with someone at ambry and they said they'd seen it several times more than found via sickkids database or cftr2, but only got vague information shared from them. it's like -- on top of the treatment we've started and whatever the future holds -- there's info out there and we can't find it, and that just makes it all a bit worse. ugh. i mean, there's like nowhere to go to find a semi-complete list of mutations by putative classes? what's up with that?!?!?!
thanks mommafirst, and, of course, i'm sorry. yes, we know we need to not be assuming anything at this point. but we'd like to at least find out as much as we can, just because it's frustrating and scary to not be able to do so. seems like we're 90% sure son's first gene is class V, but the second one... no idea... seems like pairing "mild" genes is better thanone of each type, even if of course you never can tell... we keep asking dr.s for some information about son's mutations but their answers are vauge, and it's hard to know where to look for more. yes, in the case above in sickkid database, it wasn't a good presentation, but it was paired with a more severe gene. so who knows if that was just the severe gene talking! our genetic counselor said she talked with someone at ambry and they said they'd seen it several times more than found via sickkids database or cftr2, but only got vague information shared from them. it's like -- on top of the treatment we've started and whatever the future holds -- there's info out there and we can't find it, and that just makes it all a bit worse. ugh. i mean, there's like nowhere to go to find a semi-complete list of mutations by putative classes? what's up with that?!?!?!
<p>thanks mommafirst, and, of course, i'm sorry. yes, we know we need to not be assuming anything at this point. but we'd like to at least find out as much as we can, just because it's frustrating and scary to not be able to do so. seems like we're 90% sure son's first gene is class V, but the second one... no idea... seems like pairing "mild" genes is better thanone of each type, even if of course you never can tell... <br /><br />we keep asking dr.s for some information about son's mutations but their answers are vauge, and it's hard to know where to look for more. yes, in the case above in sickkid database, it wasn't a good presentation, but it was paired with a more severe gene. so who knows if that was just the severe gene talking! <br /><br />our genetic counselor said she talked with someone at ambry and they said they'd seen it several times more than found via sickkids database or cftr2, but only got vague information shared from them. <br /><br />it's like -- on top of the treatment we've started and whatever the future holds -- there's info out there and we can't find it, and that just makes it all a bit worse. ugh. i mean, there's like nowhere to go to find a semi-complete list of mutations by putative classes? what's up with that?!?!?!<br />