Hi so my son was diagnosed in 2010 after the ambry genetics test was done, so it turns out that he has the most common gene which is the delta f508 but the second one which is c.4375-20A>G. is really rare as far as the doctors told me about 2% of the cf population has this gene. I am taking my son to childrens hospital of los angeles and even though it's a great hospital. I feel that i can't get any clear answers as to what the future holds. Don't get me wrong i know that every cf patient is different and that the genes have a lot to do with it and i'm not expecting a clear cut answer i just really want information on this particular gene. As of now my son hasn't gotten ill and i pray that it stays that way. he's going to turn 2 and doctors believe he has atypical cf so if anyone can give me information on c.4375-20A>G. i'd really appreciate it!
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rare mutation!!! c.4375-20A>G.
- Thread starter gio126
- Start date
Hi so my son was diagnosed in 2010 after the ambry genetics test was done, so it turns out that he has the most common gene which is the delta f508 but the second one which is c.4375-20A>G. is really rare as far as the doctors told me about 2% of the cf population has this gene. I am taking my son to childrens hospital of los angeles and even though it's a great hospital. I feel that i can't get any clear answers as to what the future holds. Don't get me wrong i know that every cf patient is different and that the genes have a lot to do with it and i'm not expecting a clear cut answer i just really want information on this particular gene. As of now my son hasn't gotten ill and i pray that it stays that way. he's going to turn 2 and doctors believe he has atypical cf so if anyone can give me information on c.4375-20A>G. i'd really appreciate it!
<BR>Hi so my son was diagnosed in 2010 after the ambry genetics test was done, so it turns out that he has the most common gene which is the delta f508 but the second one which is c.4375-20A>G. is really rare as far as the doctors told me about 2% of the cf population has this gene. I am taking my son to childrens hospital of los angeles and even though it's a great hospital. I feel that i can't get any clear answers as to what the future holds. Don't get me wrong i know that every cf patient is different and that the genes have a lot to do with it and i'm not expecting a clear cut answer i just really want information on this particular gene. As of now my son hasn't gotten ill and i pray that it stays that way. he's going to turn 2 and doctors believe he has atypical cf so if anyone can give me information on c.4375-20A>G. i'd really appreciate it!
M
Mommafirst
Guest
The best I can find when I search is that it can have typical CF symptoms, sometimes with pancreatic sufficiency. Probably your best best is to make an appointment with the genetics department and see if they can track it down. I know it sounds odd, but hitting 2% of the population, doesn't really make it all that rare. Since there are nearly 2000 mutations, it means its a known mutation in the population. For example, my daughter's second mutation has only been seen in 5 CF patients....EVER. All but one of these are young kids, so we have 0 data on how this muation might work or not. But the bottom line is that pinning your future on the muations your child has is bound to cause you either great undue stress, or give you false hopes. Focus on the fact that your son is doing so well and on the process of keeping him healthy for as long as you can.
M
Mommafirst
Guest
The best I can find when I search is that it can have typical CF symptoms, sometimes with pancreatic sufficiency. Probably your best best is to make an appointment with the genetics department and see if they can track it down. I know it sounds odd, but hitting 2% of the population, doesn't really make it all that rare. Since there are nearly 2000 mutations, it means its a known mutation in the population. For example, my daughter's second mutation has only been seen in 5 CF patients....EVER. All but one of these are young kids, so we have 0 data on how this muation might work or not. But the bottom line is that pinning your future on the muations your child has is bound to cause you either great undue stress, or give you false hopes. Focus on the fact that your son is doing so well and on the process of keeping him healthy for as long as you can.
M
Mommafirst
Guest
The best I can find when I search is that it can have typical CF symptoms, sometimes with pancreatic sufficiency. Probably your best best is to make an appointment with the genetics department and see if they can track it down. I know it sounds odd, but hitting 2% of the population, doesn't really make it all that rare. Since there are nearly 2000 mutations, it means its a known mutation in the population. For example, my daughter's second mutation has only been seen in 5 CF patients....EVER. All but one of these are young kids, so we have 0 data on how this muation might work or not. But the bottom line is that pinning your future on the muations your child has is bound to cause you either great undue stress, or give you false hopes. Focus on the fact that your son is doing so well and on the process of keeping him healthy for as long as you can.
thanks for the information and i think i wrote it wrong the doctors told me the mutation here in the u.s. is rare and he's the first patient they've seen with that particular gene. I'm hopeful and thankful that he's healthy but i'm a nurse and i do alot a research and i try to keep myself informed. i just want information on this gene because delta f508 is the most common and if you look that up there's tons of information as opposed to the other gene my son has but again thanks for the tips.
thanks for the information and i think i wrote it wrong the doctors told me the mutation here in the u.s. is rare and he's the first patient they've seen with that particular gene. I'm hopeful and thankful that he's healthy but i'm a nurse and i do alot a research and i try to keep myself informed. i just want information on this gene because delta f508 is the most common and if you look that up there's tons of information as opposed to the other gene my son has but again thanks for the tips.
thanks for the information and i think i wrote it wrong the doctors told me the mutation here in the u.s. is rare and he's the first patient they've seen with that particular gene. I'm hopeful and thankful that he's healthy but i'm a nurse and i do alot a research and i try to keep myself informed. i just want information on this gene because delta f508 is the most common and if you look that up there's tons of information as opposed to the other gene my son has but again thanks for the tips.
liketohelp
New member
Dear Mrs. Campos,
I am familiar with 4375-20A>G (c.4243-20A>G) and think that it is likely a benign sequence change and, if no symptoms now, your baby does not have cystic fibrosis. Why? It is far within an intron (non-protein coding region) and it has been detected in 0.2% of 1990 NORMAL control chromosomes. The reason it was called a "mutation" is that it is not common in the normal population and it is within 20 nucleotides from an exon. If it had been just one more nucleotide away from the exon, it would not have met the criterion for being called a "mutation"; the cut-off is at 20 and this is a somewhat arbitrary cut-off. I myself would call this a "sequence change" of unclear significance but would add that it is most likely benign. Maybe you have already figured this all out but I wanted to make sure; please enjoy your baby and do not worry about this sequence change too much.
I am familiar with 4375-20A>G (c.4243-20A>G) and think that it is likely a benign sequence change and, if no symptoms now, your baby does not have cystic fibrosis. Why? It is far within an intron (non-protein coding region) and it has been detected in 0.2% of 1990 NORMAL control chromosomes. The reason it was called a "mutation" is that it is not common in the normal population and it is within 20 nucleotides from an exon. If it had been just one more nucleotide away from the exon, it would not have met the criterion for being called a "mutation"; the cut-off is at 20 and this is a somewhat arbitrary cut-off. I myself would call this a "sequence change" of unclear significance but would add that it is most likely benign. Maybe you have already figured this all out but I wanted to make sure; please enjoy your baby and do not worry about this sequence change too much.
liketohelp
New member
Dear Mrs. Campos,
I am familiar with 4375-20A>G (c.4243-20A>G) and think that it is likely a benign sequence change and, if no symptoms now, your baby does not have cystic fibrosis. Why? It is far within an intron (non-protein coding region) and it has been detected in 0.2% of 1990 NORMAL control chromosomes. The reason it was called a "mutation" is that it is not common in the normal population and it is within 20 nucleotides from an exon. If it had been just one more nucleotide away from the exon, it would not have met the criterion for being called a "mutation"; the cut-off is at 20 and this is a somewhat arbitrary cut-off. I myself would call this a "sequence change" of unclear significance but would add that it is most likely benign. Maybe you have already figured this all out but I wanted to make sure; please enjoy your baby and do not worry about this sequence change too much.
I am familiar with 4375-20A>G (c.4243-20A>G) and think that it is likely a benign sequence change and, if no symptoms now, your baby does not have cystic fibrosis. Why? It is far within an intron (non-protein coding region) and it has been detected in 0.2% of 1990 NORMAL control chromosomes. The reason it was called a "mutation" is that it is not common in the normal population and it is within 20 nucleotides from an exon. If it had been just one more nucleotide away from the exon, it would not have met the criterion for being called a "mutation"; the cut-off is at 20 and this is a somewhat arbitrary cut-off. I myself would call this a "sequence change" of unclear significance but would add that it is most likely benign. Maybe you have already figured this all out but I wanted to make sure; please enjoy your baby and do not worry about this sequence change too much.