Poly T Question

[Justinsmom]

Hi,
I was reading my son's results and he has a sequence change (F1052V). They did not find a second mutation, but it says Poly T: 7T and 7T. Could anyone PLEASE explain what this means?
Thank you in advance.

 

[Justinsmom]

Hi,
I was reading my son's results and he has a sequence change (F1052V). They did not find a second mutation, but it says Poly T: 7T and 7T. Could anyone PLEASE explain what this means?
Thank you in advance.

 

[Beccamom]

I am not a doctor, but my understanding is that you inherit one Poly T from each parent so your son got a 7T from you and a 7T from his father. I am told that 7T and 9T are not disease causing, but 5T with a known disease causing mutation can cause mild CF symtoms. I posted a similar question to Steve from Ambry on this cite. It should mean your son is an asymptomatic carrier. Guessing from the fact that he is being tested at the age of 7 you would probably disagree with the asymptomatic part.

My daughter is in a similar situation 1 Cf mutation and 7T/9T while her sister has no Cf gene mutations and the 5T/7T. My daughter is treated for CF and doing really well with the treatment. Best wishes.
Jen

 

[Beccamom]

I am not a doctor, but my understanding is that you inherit one Poly T from each parent so your son got a 7T from you and a 7T from his father. I am told that 7T and 9T are not disease causing, but 5T with a known disease causing mutation can cause mild CF symtoms. I posted a similar question to Steve from Ambry on this cite. It should mean your son is an asymptomatic carrier. Guessing from the fact that he is being tested at the age of 7 you would probably disagree with the asymptomatic part.

My daughter is in a similar situation 1 Cf mutation and 7T/9T while her sister has no Cf gene mutations and the 5T/7T. My daughter is treated for CF and doing really well with the treatment. Best wishes.
Jen

 

[hmw]

The 5/7/9polyT's are of interest when it comes to what other mutations they could be paired with. For example, the R117H mutation on its own usually only causes very mild disease and/or CBAVD, however when you add a 5T variant, it behaves more like a classic disease causing mutation.

In your child's case, the F1052V mutation is also one commonly associated with pancreatitis. A polyT variant on each allele is something that may or may not be significant, hopefully the dr can clarify this for you. There is also the possibility that he could have another mutation not being picked up on the test. Odds of that being the case also depend on how sick he's been and other test results- how high was his sweat test, etc.

 

[hmw]

The 5/7/9polyT's are of interest when it comes to what other mutations they could be paired with. For example, the R117H mutation on its own usually only causes very mild disease and/or CBAVD, however when you add a 5T variant, it behaves more like a classic disease causing mutation.

In your child's case, the F1052V mutation is also one commonly associated with pancreatitis. A polyT variant on each allele is something that may or may not be significant, hopefully the dr can clarify this for you. There is also the possibility that he could have another mutation not being picked up on the test. Odds of that being the case also depend on how sick he's been and other test results- how high was his sweat test, etc.

 

[Justinsmom]

Thanks Harriett and Becca's Mom,

I have not been able to figure out how to change our signature line, but Justin was diagnosed with CF about a month ago. He is completely PI and had two back to back pneumonias, the first being one that was more specific or common to CF. I am not sure why, too overwhelmed at the time to ask, and just happy to be getting the treatment he needs. His doctor now is familiar with F1052V (has another patient with same mutation and similar expression). You are right, the doctor thinks the other mutation is in a place they did not look at (again don't remember the area). He is scheduled for a bronchoscopy in two weeks and we should know better then where he stands.

Thank you again for your help. I sent the information to my brother-in-law (toxicologist and pharmacologist) and it was the first time I had seen the 7T's.

 

[Justinsmom]

Thanks Harriett and Becca's Mom,

I have not been able to figure out how to change our signature line, but Justin was diagnosed with CF about a month ago. He is completely PI and had two back to back pneumonias, the first being one that was more specific or common to CF. I am not sure why, too overwhelmed at the time to ask, and just happy to be getting the treatment he needs. His doctor now is familiar with F1052V (has another patient with same mutation and similar expression). You are right, the doctor thinks the other mutation is in a place they did not look at (again don't remember the area). He is scheduled for a bronchoscopy in two weeks and we should know better then where he stands.

Thank you again for your help. I sent the information to my brother-in-law (toxicologist and pharmacologist) and it was the first time I had seen the 7T's.

 

[Justinsmom]

Thanks Harriett and Becca's Mom,

I have not been able to figure out how to change our signature line, but Justin was diagnosed with CF about a month ago. He is completely PI and had two back to back pneumonias, the first being one that was more specific or common to CF. I am not sure why, too overwhelmed at the time to ask, and just happy to be getting the treatment he needs. His doctor now is familiar with F1052V (has another patient with same mutation and similar expression). You are right, the doctor thinks the other mutation is in a place they did not look at (again don't remember the area). He is scheduled for a bronchoscopy in two weeks and we should know better then where he stands.

Thank you again for your help. I sent the information to my brother-in-law (toxicologist and pharmacologist) and it was the first time I had seen the 7T's.

 

[Justinsmom]

Thanks Harriett and Becca's Mom,

I have not been able to figure out how to change our signature line, but Justin was diagnosed with CF about a month ago. He is completely PI and had two back to back pneumonias, the first being one that was more specific or common to CF. I am not sure why, too overwhelmed at the time to ask, and just happy to be getting the treatment he needs. His doctor now is familiar with F1052V (has another patient with same mutation and similar expression). You are right, the doctor thinks the other mutation is in a place they did not look at (again don't remember the area). He is scheduled for a bronchoscopy in two weeks and we should know better then where he stands.

Thank you again for your help. I sent the information to my brother-in-law (toxicologist and pharmacologist) and it was the first time I had seen the 7T's.

 

[cgerhardt]

This is what I know just from what I have gone through with my kids.... 6 yr old 5t 7t respitory problems 4 yr old respitory allergies and is on creon, 3 yr old respitory problems, creon, and in the hospital 7 times in less than 2 years 3 picclines and has tested positive for 2 cf bacterias

 

[cgerhardt]

This is what I know just from what I have gone through with my kids.... 6 yr old 5t 7t respitory problems 4 yr old respitory allergies and is on creon, 3 yr old respitory problems, creon, and in the hospital 7 times in less than 2 years 3 picclines and has tested positive for 2 cf bacterias