Question about genetic variants....

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christenk

New member
I have a daughter, Emerson, who just turned 1 last week. When she was a week old, my husband and I learned her newborn screening test for CF was abnormal. We were totally shocked because there was no family history of CF on either side. After sweat testing (normal), evaluations at a CF center, and extensive Ambry genetic testing, we learned she has delta 508/9T mutation inherited from me and a 5T variant on the other chromosome. From what I have read this can be considered "non-classic" CF. I am sure other families have been through a similar situation. I guess I was just wondering how others handle this when people ask "does your daughter have CF"- yes or no or kind of???
Thanks in advance for the advice!
 
C

christenk

New member
I have a daughter, Emerson, who just turned 1 last week. When she was a week old, my husband and I learned her newborn screening test for CF was abnormal. We were totally shocked because there was no family history of CF on either side. After sweat testing (normal), evaluations at a CF center, and extensive Ambry genetic testing, we learned she has delta 508/9T mutation inherited from me and a 5T variant on the other chromosome. From what I have read this can be considered "non-classic" CF. I am sure other families have been through a similar situation. I guess I was just wondering how others handle this when people ask "does your daughter have CF"- yes or no or kind of???
Thanks in advance for the advice!
 
C

christenk

New member
I have a daughter, Emerson, who just turned 1 last week. When she was a week old, my husband and I learned her newborn screening test for CF was abnormal. We were totally shocked because there was no family history of CF on either side. After sweat testing (normal), evaluations at a CF center, and extensive Ambry genetic testing, we learned she has delta 508/9T mutation inherited from me and a 5T variant on the other chromosome. From what I have read this can be considered "non-classic" CF. I am sure other families have been through a similar situation. I guess I was just wondering how others handle this when people ask "does your daughter have CF"- yes or no or kind of???
Thanks in advance for the advice!
 
C

christenk

New member
I have a daughter, Emerson, who just turned 1 last week. When she was a week old, my husband and I learned her newborn screening test for CF was abnormal. We were totally shocked because there was no family history of CF on either side. After sweat testing (normal), evaluations at a CF center, and extensive Ambry genetic testing, we learned she has delta 508/9T mutation inherited from me and a 5T variant on the other chromosome. From what I have read this can be considered "non-classic" CF. I am sure other families have been through a similar situation. I guess I was just wondering how others handle this when people ask "does your daughter have CF"- yes or no or kind of???
Thanks in advance for the advice!
 
C

christenk

New member
I have a daughter, Emerson, who just turned 1 last week. When she was a week old, my husband and I learned her newborn screening test for CF was abnormal. We were totally shocked because there was no family history of CF on either side. After sweat testing (normal), evaluations at a CF center, and extensive Ambry genetic testing, we learned she has delta 508/9T mutation inherited from me and a 5T variant on the other chromosome. From what I have read this can be considered "non-classic" CF. I am sure other families have been through a similar situation. I guess I was just wondering how others handle this when people ask "does your daughter have CF"- yes or no or kind of???
Thanks in advance for the advice!
 
C

christenk

New member
I have a daughter, Emerson, who just turned 1 last week. When she was a week old, my husband and I learned her newborn screening test for CF was abnormal. We were totally shocked because there was no family history of CF on either side. After sweat testing (normal), evaluations at a CF center, and extensive Ambry genetic testing, we learned she has delta 508/9T mutation inherited from me and a 5T variant on the other chromosome. From what I have read this can be considered "non-classic" CF. I am sure other families have been through a similar situation. I guess I was just wondering how others handle this when people ask "does your daughter have CF"- yes or no or kind of???
Thanks in advance for the advice!
 
O

okok

New member
I'm a little confused. I think usually when you use the notation "df508/9t" with the slash between them that means the 9t allele is on the opposite chromosome of delf508 allele. If that is the case, then the 5t allele would be on the SAME chromosome as delf508. 9t is a normal varient of the CFTR and DOES NOT cause disease. The 5t allele on the other hand is a varient of the CFTR that sometimes does cause disease (some people are perfectly normal and others have problems.) You cannot have both the 5t and 9t allele on the same chromosome so they have to be on opposite chromosomes.

If your daughter has the 5t allele on the same chromosome as delf508 then she is just a carrier of CF. She could still develop some symptoms related to that but they shouldn't be too serious. The reason that the 5t allele does not cause a problem when it is cis to delf508 (ie on the same chromosome) is because the delf508 protien is already completely useless so additional mutations will not affect how it functions. The delf508 protien does not even make it to the cell's memebrane where it normally functions. However, if the 5t allele is trans to del f508 (ie on the opposite chromosome) then it could certainly cause problems for your daughter (but won't necessarily). I'm not even sure if all doctors diagnose someone with CF if they have the 5t allele or not. I don't think it would be in anyway unreasonable for a doctor to diagnose your daughter if the 5t allele is oppisite the delf508 although some doctors might want to wait to see if symptoms appear. Did your daughter recieve a CF diagnosis? If so, you can certainly tell people she has CF!!

I hope this isn't too confusing for you and i urge you to discuss this with your doctor/gentic counselor especially if i have confused the heck out of you.
 
O

okok

New member
I'm a little confused. I think usually when you use the notation "df508/9t" with the slash between them that means the 9t allele is on the opposite chromosome of delf508 allele. If that is the case, then the 5t allele would be on the SAME chromosome as delf508. 9t is a normal varient of the CFTR and DOES NOT cause disease. The 5t allele on the other hand is a varient of the CFTR that sometimes does cause disease (some people are perfectly normal and others have problems.) You cannot have both the 5t and 9t allele on the same chromosome so they have to be on opposite chromosomes.

If your daughter has the 5t allele on the same chromosome as delf508 then she is just a carrier of CF. She could still develop some symptoms related to that but they shouldn't be too serious. The reason that the 5t allele does not cause a problem when it is cis to delf508 (ie on the same chromosome) is because the delf508 protien is already completely useless so additional mutations will not affect how it functions. The delf508 protien does not even make it to the cell's memebrane where it normally functions. However, if the 5t allele is trans to del f508 (ie on the opposite chromosome) then it could certainly cause problems for your daughter (but won't necessarily). I'm not even sure if all doctors diagnose someone with CF if they have the 5t allele or not. I don't think it would be in anyway unreasonable for a doctor to diagnose your daughter if the 5t allele is oppisite the delf508 although some doctors might want to wait to see if symptoms appear. Did your daughter recieve a CF diagnosis? If so, you can certainly tell people she has CF!!

I hope this isn't too confusing for you and i urge you to discuss this with your doctor/gentic counselor especially if i have confused the heck out of you.
 
O

okok

New member
I'm a little confused. I think usually when you use the notation "df508/9t" with the slash between them that means the 9t allele is on the opposite chromosome of delf508 allele. If that is the case, then the 5t allele would be on the SAME chromosome as delf508. 9t is a normal varient of the CFTR and DOES NOT cause disease. The 5t allele on the other hand is a varient of the CFTR that sometimes does cause disease (some people are perfectly normal and others have problems.) You cannot have both the 5t and 9t allele on the same chromosome so they have to be on opposite chromosomes.

If your daughter has the 5t allele on the same chromosome as delf508 then she is just a carrier of CF. She could still develop some symptoms related to that but they shouldn't be too serious. The reason that the 5t allele does not cause a problem when it is cis to delf508 (ie on the same chromosome) is because the delf508 protien is already completely useless so additional mutations will not affect how it functions. The delf508 protien does not even make it to the cell's memebrane where it normally functions. However, if the 5t allele is trans to del f508 (ie on the opposite chromosome) then it could certainly cause problems for your daughter (but won't necessarily). I'm not even sure if all doctors diagnose someone with CF if they have the 5t allele or not. I don't think it would be in anyway unreasonable for a doctor to diagnose your daughter if the 5t allele is oppisite the delf508 although some doctors might want to wait to see if symptoms appear. Did your daughter recieve a CF diagnosis? If so, you can certainly tell people she has CF!!

I hope this isn't too confusing for you and i urge you to discuss this with your doctor/gentic counselor especially if i have confused the heck out of you.
 
O

okok

New member
I'm a little confused. I think usually when you use the notation "df508/9t" with the slash between them that means the 9t allele is on the opposite chromosome of delf508 allele. If that is the case, then the 5t allele would be on the SAME chromosome as delf508. 9t is a normal varient of the CFTR and DOES NOT cause disease. The 5t allele on the other hand is a varient of the CFTR that sometimes does cause disease (some people are perfectly normal and others have problems.) You cannot have both the 5t and 9t allele on the same chromosome so they have to be on opposite chromosomes.

If your daughter has the 5t allele on the same chromosome as delf508 then she is just a carrier of CF. She could still develop some symptoms related to that but they shouldn't be too serious. The reason that the 5t allele does not cause a problem when it is cis to delf508 (ie on the same chromosome) is because the delf508 protien is already completely useless so additional mutations will not affect how it functions. The delf508 protien does not even make it to the cell's memebrane where it normally functions. However, if the 5t allele is trans to del f508 (ie on the opposite chromosome) then it could certainly cause problems for your daughter (but won't necessarily). I'm not even sure if all doctors diagnose someone with CF if they have the 5t allele or not. I don't think it would be in anyway unreasonable for a doctor to diagnose your daughter if the 5t allele is oppisite the delf508 although some doctors might want to wait to see if symptoms appear. Did your daughter recieve a CF diagnosis? If so, you can certainly tell people she has CF!!

I hope this isn't too confusing for you and i urge you to discuss this with your doctor/gentic counselor especially if i have confused the heck out of you.
 
O

okok

New member
I'm a little confused. I think usually when you use the notation "df508/9t" with the slash between them that means the 9t allele is on the opposite chromosome of delf508 allele. If that is the case, then the 5t allele would be on the SAME chromosome as delf508. 9t is a normal varient of the CFTR and DOES NOT cause disease. The 5t allele on the other hand is a varient of the CFTR that sometimes does cause disease (some people are perfectly normal and others have problems.) You cannot have both the 5t and 9t allele on the same chromosome so they have to be on opposite chromosomes.

If your daughter has the 5t allele on the same chromosome as delf508 then she is just a carrier of CF. She could still develop some symptoms related to that but they shouldn't be too serious. The reason that the 5t allele does not cause a problem when it is cis to delf508 (ie on the same chromosome) is because the delf508 protien is already completely useless so additional mutations will not affect how it functions. The delf508 protien does not even make it to the cell's memebrane where it normally functions. However, if the 5t allele is trans to del f508 (ie on the opposite chromosome) then it could certainly cause problems for your daughter (but won't necessarily). I'm not even sure if all doctors diagnose someone with CF if they have the 5t allele or not. I don't think it would be in anyway unreasonable for a doctor to diagnose your daughter if the 5t allele is oppisite the delf508 although some doctors might want to wait to see if symptoms appear. Did your daughter recieve a CF diagnosis? If so, you can certainly tell people she has CF!!

I hope this isn't too confusing for you and i urge you to discuss this with your doctor/gentic counselor especially if i have confused the heck out of you.
 
O

okok

New member
I'm a little confused. I think usually when you use the notation "df508/9t" with the slash between them that means the 9t allele is on the opposite chromosome of delf508 allele. If that is the case, then the 5t allele would be on the SAME chromosome as delf508. 9t is a normal varient of the CFTR and DOES NOT cause disease. The 5t allele on the other hand is a varient of the CFTR that sometimes does cause disease (some people are perfectly normal and others have problems.) You cannot have both the 5t and 9t allele on the same chromosome so they have to be on opposite chromosomes.

If your daughter has the 5t allele on the same chromosome as delf508 then she is just a carrier of CF. She could still develop some symptoms related to that but they shouldn't be too serious. The reason that the 5t allele does not cause a problem when it is cis to delf508 (ie on the same chromosome) is because the delf508 protien is already completely useless so additional mutations will not affect how it functions. The delf508 protien does not even make it to the cell's memebrane where it normally functions. However, if the 5t allele is trans to del f508 (ie on the opposite chromosome) then it could certainly cause problems for your daughter (but won't necessarily). I'm not even sure if all doctors diagnose someone with CF if they have the 5t allele or not. I don't think it would be in anyway unreasonable for a doctor to diagnose your daughter if the 5t allele is oppisite the delf508 although some doctors might want to wait to see if symptoms appear. Did your daughter recieve a CF diagnosis? If so, you can certainly tell people she has CF!!

I hope this isn't too confusing for you and i urge you to discuss this with your doctor/gentic counselor especially if i have confused the heck out of you.
 
O

okok

New member
I just saw that the 5t is oppisite the df508. So sorry i missed that! I would expect that they would at the very least keep a close eye on your daughter for symptoms. I wouldn't be surprised at all if they diagnosed her with atypical CF. In that case i wouldn't worry about the making the distinction since for most people just understanding CF at all is hard much less trying to understand how it can vary so wildly. If they are just keeping an eye her, i would maybe tell people she has a risk for developing CF...


PS i think bonnie is smart for limiting her baby's exposure to the CF clinic bugs. I think visits twice a year and regular appointments with a good ped would be a good plan for your daughter too.

also do you know your daughter tg status...? I think the 5t is more likely to be a problem when it is cis to the tg12 repeats like bonnie's genotype.
 
O

okok

New member
I just saw that the 5t is oppisite the df508. So sorry i missed that! I would expect that they would at the very least keep a close eye on your daughter for symptoms. I wouldn't be surprised at all if they diagnosed her with atypical CF. In that case i wouldn't worry about the making the distinction since for most people just understanding CF at all is hard much less trying to understand how it can vary so wildly. If they are just keeping an eye her, i would maybe tell people she has a risk for developing CF...


PS i think bonnie is smart for limiting her baby's exposure to the CF clinic bugs. I think visits twice a year and regular appointments with a good ped would be a good plan for your daughter too.

also do you know your daughter tg status...? I think the 5t is more likely to be a problem when it is cis to the tg12 repeats like bonnie's genotype.
 
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