df508 on one gene and 5T variant on the other

E

edan

Guest
<P>Hi. We are going through the process for IVF and the genetic counselor asked if we wanted to test my husband for the 5T variant. IF someone has df508 on one CFTR gene and the 5T on the other, would that be disease causing?</P>
<P>Thanks,</P>
<P>Edan.</P>
 
E

edan

Guest
<P>Hi. We are going through the process for IVF and the genetic counselor asked if we wanted to test my husband for the 5T variant. IF someone has df508 on one CFTR gene and the 5T on the other, would that be disease causing?</P>
<P>Thanks,</P>
<P>Edan.</P>
 
E

edan

Guest
<P>Hi. We are going through the process for IVF and the genetic counselor asked if we wanted to test my husband for the 5T variant. IF someone has df508 on one CFTR gene and the 5T on the other, would that be disease causing?</P>
<P>Thanks,</P>
<P>Edan.</P>
 
B

ByGrace

Guest
My DS has those mutations but we've only recently discovered it, so I don't know a whole lot about it yet. I do know that one factor is the number of TG repeats associated with the 5t. If I understand right, 9-11 repeats usually show no symptoms, while 12-13 repeats can present as atypical cf. My 8 year old son has 12 repeats, and right now his only symptom is constipation. As with any cf mutation, presentation is different for everyone.
 
B

ByGrace

Guest
My DS has those mutations but we've only recently discovered it, so I don't know a whole lot about it yet. I do know that one factor is the number of TG repeats associated with the 5t. If I understand right, 9-11 repeats usually show no symptoms, while 12-13 repeats can present as atypical cf. My 8 year old son has 12 repeats, and right now his only symptom is constipation. As with any cf mutation, presentation is different for everyone.
 
B

ByGrace

Guest
My DS has those mutations but we've only recently discovered it, so I don't know a whole lot about it yet. I do know that one factor is the number of TG repeats associated with the 5t. If I understand right, 9-11 repeats usually show no symptoms, while 12-13 repeats can present as atypical cf. My 8 year old son has 12 repeats, and right now his only symptom is constipation. As with any cf mutation, presentation is different for everyone.
 
P

Printer

Active member
I have DF508 and V562I and the T5 variant. Part of the INTERPREATION of the FULL CF GENE SEQUENCE reads ad follows:

This analysis identified one copy of c. 1521_1523delCTT (p. F508del). a clinically significant sequence change, one copy of c. [1684G>A; c.3017C>A] (p. [V5621; A1006E]), and one copy of the 5T variant. Based on the literature , [1684G>A] and 5T are expected to occur together on the same cromosome as a complex allele that is likely to be clinically significant.

I hope that this helps you.

Bill
 
P

Printer

Active member
I have DF508 and V562I and the T5 variant. Part of the INTERPREATION of the FULL CF GENE SEQUENCE reads ad follows:

This analysis identified one copy of c. 1521_1523delCTT (p. F508del). a clinically significant sequence change, one copy of c. [1684G>A; c.3017C>A] (p. [V5621; A1006E]), and one copy of the 5T variant. Based on the literature , [1684G>A] and 5T are expected to occur together on the same cromosome as a complex allele that is likely to be clinically significant.

I hope that this helps you.

Bill
 
P

Printer

Active member
I have DF508 and V562I and the T5 variant. Part of the INTERPREATION of the FULL CF GENE SEQUENCE reads ad follows:

This analysis identified one copy of c. 1521_1523delCTT (p. F508del). a clinically significant sequence change, one copy of c. [1684G>A; c.3017C>A] (p. [V5621; A1006E]), and one copy of the 5T variant. Based on the literature , [1684G>A] and 5T are expected to occur together on the same cromosome as a complex allele that is likely to be clinically significant.

I hope that this helps you.

Bill
 
M

Mommafirst

Guest
<P><div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Printer</b></i> I have DF508 and V562I and the T5 variant. Part of the INTERPREATION of the FULL CF GENE SEQUENCE reads ad follows: This analysis identified one copy of c. 1521_1523delCTT (p. F508del). a clinically significant sequence change, one copy of c. [1684G>A; c.3017C>A] (p. [V5621; A1006E]), and one copy of the 5T variant. Based on the literature , [1684G>A] and 5T are expected to occur together on the same cromosome as a complex allele that is likely to be clinically significant. I hope that this helps you. Bill</end quote> </P>
<P></P>
<P>Bill -- have you always been pancreatic insufficient, or was it something that happened at some point in your life? The doctors tell me that my daughter can lose thesufficiency she has now, but I haven't met too many people that went through this change.</P>
 
M

Mommafirst

Guest
<P><div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Printer</b></i> I have DF508 and V562I and the T5 variant. Part of the INTERPREATION of the FULL CF GENE SEQUENCE reads ad follows: This analysis identified one copy of c. 1521_1523delCTT (p. F508del). a clinically significant sequence change, one copy of c. [1684G>A; c.3017C>A] (p. [V5621; A1006E]), and one copy of the 5T variant. Based on the literature , [1684G>A] and 5T are expected to occur together on the same cromosome as a complex allele that is likely to be clinically significant. I hope that this helps you. Bill</end quote> </P>
<P></P>
<P>Bill -- have you always been pancreatic insufficient, or was it something that happened at some point in your life? The doctors tell me that my daughter can lose thesufficiency she has now, but I haven't met too many people that went through this change.</P>
 
M

Mommafirst

Guest
<P><div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Printer</b></i> I have DF508 and V562I and the T5 variant. Part of the INTERPREATION of the FULL CF GENE SEQUENCE reads ad follows: This analysis identified one copy of c. 1521_1523delCTT (p. F508del). a clinically significant sequence change, one copy of c. [1684G>A; c.3017C>A] (p. [V5621; A1006E]), and one copy of the 5T variant. Based on the literature , [1684G>A] and 5T are expected to occur together on the same cromosome as a complex allele that is likely to be clinically significant. I hope that this helps you. Bill</end quote> </P>
<P></P>
<P>Bill -- have you always been pancreatic insufficient, or was it something that happened at some point in your life? The doctors tell me that my daughter can lose thesufficiency she has now, but I haven't met too many people that went through this change.</P>
 
P

Printer

Active member
Heather:

I began to become PI when I was in my late 20's but remember that I wasn't dx until I was 47. Up until I was 47, I had never been treated for mucus (much less CF). Had I been treated, the mucus would not have been free to flow and collect on my pancreas.

My feeling is that had I been treated, at an early age, the mucus would have been broken up and removed from my lungs.

Given the current treatments, not to mention VX770 & VX 806, Alyssa shouldn't have any serious pancreatitis problems.

Bill
 
P

Printer

Active member
Heather:

I began to become PI when I was in my late 20's but remember that I wasn't dx until I was 47. Up until I was 47, I had never been treated for mucus (much less CF). Had I been treated, the mucus would not have been free to flow and collect on my pancreas.

My feeling is that had I been treated, at an early age, the mucus would have been broken up and removed from my lungs.

Given the current treatments, not to mention VX770 & VX 806, Alyssa shouldn't have any serious pancreatitis problems.

Bill
 
P

Printer

Active member
Heather:

I began to become PI when I was in my late 20's but remember that I wasn't dx until I was 47. Up until I was 47, I had never been treated for mucus (much less CF). Had I been treated, the mucus would not have been free to flow and collect on my pancreas.

My feeling is that had I been treated, at an early age, the mucus would have been broken up and removed from my lungs.

Given the current treatments, not to mention VX770 & VX 806, Alyssa shouldn't have any serious pancreatitis problems.

Bill
 
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