GENE MUTATION

K

katzyloo

New member
Hi folks, we got confirmation of a second gene mutation yestarday. Our consultant however has had no experience with the second gene as none of the 120 patients at the royal sick kids in edinburgh have this gene. The lab has concluded he has F508 and C2657+2_2657+3ins17 (previously known as 2789+2ins17). Does anyone have any information on this gene. Also ive noticed some people are mentioning homozygous delta F508, can anyone tell me what this means.
thanks katie
 
K

katzyloo

New member
Hi folks, we got confirmation of a second gene mutation yestarday. Our consultant however has had no experience with the second gene as none of the 120 patients at the royal sick kids in edinburgh have this gene. The lab has concluded he has F508 and C2657+2_2657+3ins17 (previously known as 2789+2ins17). Does anyone have any information on this gene. Also ive noticed some people are mentioning homozygous delta F508, can anyone tell me what this means.
thanks katie
 
K

katzyloo

New member
Hi folks, we got confirmation of a second gene mutation yestarday. Our consultant however has had no experience with the second gene as none of the 120 patients at the royal sick kids in edinburgh have this gene. The lab has concluded he has F508 and C2657+2_2657+3ins17 (previously known as 2789+2ins17). Does anyone have any information on this gene. Also ive noticed some people are mentioning homozygous delta F508, can anyone tell me what this means.
<br />thanks katie
 
Y

ymikhale

New member
Hi, I cannot help you with the mutation that you mentioned, but regarding your second question, homozygous delta f508 means that one has two copies of delta f508 mutation (which is not your case). Hope it helps.
 
Y

ymikhale

New member
Hi, I cannot help you with the mutation that you mentioned, but regarding your second question, homozygous delta f508 means that one has two copies of delta f508 mutation (which is not your case). Hope it helps.
 
Y

ymikhale

New member
Hi, I cannot help you with the mutation that you mentioned, but regarding your second question, homozygous delta f508 means that one has two copies of delta f508 mutation (which is not your case). Hope it helps.
 
M

Mommafirst

Guest
I did a quick check in the CF mutation index for you and only can find one that is all the same but ends in +2insA.

I don't know if it is different, but it says that it was found because of a CBAVD (male who lacks the vas deferens and thus is unable to conceive). Usually those that are found this way means that the symptoms were mild into the reproduction years and they were tested because of the infertility, not typical CF issues. This does not mean that the CF will not be typical CF, as ultimately mutations don't make the only decider for progression.

If you want more information, Steve posts in the Ambry thread (under Families). He is a geneticist who may be able to explain this more.

Please keep in mind that CF is different for everyone. I'm so sorry you've gotten a diagnosis and I know the need to try and figure out what all this means, but pinning hopes on the genetic mutation can really set you up for a big dissappointment if things don't go as you thought they would.
 
M

Mommafirst

Guest
I did a quick check in the CF mutation index for you and only can find one that is all the same but ends in +2insA.

I don't know if it is different, but it says that it was found because of a CBAVD (male who lacks the vas deferens and thus is unable to conceive). Usually those that are found this way means that the symptoms were mild into the reproduction years and they were tested because of the infertility, not typical CF issues. This does not mean that the CF will not be typical CF, as ultimately mutations don't make the only decider for progression.

If you want more information, Steve posts in the Ambry thread (under Families). He is a geneticist who may be able to explain this more.

Please keep in mind that CF is different for everyone. I'm so sorry you've gotten a diagnosis and I know the need to try and figure out what all this means, but pinning hopes on the genetic mutation can really set you up for a big dissappointment if things don't go as you thought they would.
 
M

Mommafirst

Guest
I did a quick check in the CF mutation index for you and only can find one that is all the same but ends in +2insA.
<br />
<br />I don't know if it is different, but it says that it was found because of a CBAVD (male who lacks the vas deferens and thus is unable to conceive). Usually those that are found this way means that the symptoms were mild into the reproduction years and they were tested because of the infertility, not typical CF issues. This does not mean that the CF will not be typical CF, as ultimately mutations don't make the only decider for progression.
<br />
<br />If you want more information, Steve posts in the Ambry thread (under Families). He is a geneticist who may be able to explain this more.
<br />
<br />Please keep in mind that CF is different for everyone. I'm so sorry you've gotten a diagnosis and I know the need to try and figure out what all this means, but pinning hopes on the genetic mutation can really set you up for a big dissappointment if things don't go as you thought they would.
 
K

katzyloo

New member
Thank you so much heather for all that information. As far as i can read the original detail i posted for gene is what the consultant wrote, however i have to say his hand writing wasn't the best.
Someone has said to me that they think the second gene may be the dominant gene as the consultant was doing some reasearch into it, which might suggest a mild form. he doesnt have any symptons so it may well be that the only affect may be infertility. do u have any idea wen they can test for it, around puberty etc?
Even if he does present symptoms, we have already started physio exercises so fingers crossed he will have a better chance of fighting infections.
katie
 
K

katzyloo

New member
Thank you so much heather for all that information. As far as i can read the original detail i posted for gene is what the consultant wrote, however i have to say his hand writing wasn't the best.
Someone has said to me that they think the second gene may be the dominant gene as the consultant was doing some reasearch into it, which might suggest a mild form. he doesnt have any symptons so it may well be that the only affect may be infertility. do u have any idea wen they can test for it, around puberty etc?
Even if he does present symptoms, we have already started physio exercises so fingers crossed he will have a better chance of fighting infections.
katie
 
K

katzyloo

New member
Thank you so much heather for all that information. As far as i can read the original detail i posted for gene is what the consultant wrote, however i have to say his hand writing wasn't the best.
<br />Someone has said to me that they think the second gene may be the dominant gene as the consultant was doing some reasearch into it, which might suggest a mild form. he doesnt have any symptons so it may well be that the only affect may be infertility. do u have any idea wen they can test for it, around puberty etc?
<br />Even if he does present symptoms, we have already started physio exercises so fingers crossed he will have a better chance of fighting infections.
<br />katie
 
K

ktsmom

New member
Hi Katie - regarding your question about a dominant gene, what they may be referring to is that the mildest mutation <i> usually </i> governs the expression of symptoms. That is why carriers typically don't have any symptoms. They have enough functionality of the CFTR from their non-mutated gene.

I hate having to add all of the qualfiers - "usually", "typically", etc. when I write something. <img src="i/expressions/face-icon-small-smile.gif" border="0"> But that's how it goes when you are talking about CF.
 
K

ktsmom

New member
Hi Katie - regarding your question about a dominant gene, what they may be referring to is that the mildest mutation <i> usually </i> governs the expression of symptoms. That is why carriers typically don't have any symptoms. They have enough functionality of the CFTR from their non-mutated gene.

I hate having to add all of the qualfiers - "usually", "typically", etc. when I write something. <img src="i/expressions/face-icon-small-smile.gif" border="0"> But that's how it goes when you are talking about CF.
 
K

ktsmom

New member
Hi Katie - regarding your question about a dominant gene, what they may be referring to is that the mildest mutation <i> usually </i> governs the expression of symptoms. That is why carriers typically don't have any symptoms. They have enough functionality of the CFTR from their non-mutated gene.
<br />
<br />I hate having to add all of the qualfiers - "usually", "typically", etc. when I write something. <img src="i/expressions/face-icon-small-smile.gif" border="0"> But that's how it goes when you are talking about CF.
 
N

Nikole

New member
class 5 mutation

Hello. I have a 3-1/2 yr. old daughter with CF. She was born with a bowel obstruction and lost an adequate amount of intestines at birth. She was tested for CF twice bc of this and both times was negative. When we moved to a new town, her new gastro wanted to test her again bc she had alot of malabsorption and tummy aches plus protrudring rectum while potty training. She tested positive genetically and then sweat test as well. Can anyone tell me if they know of anyone with a delta F508 mutation and a 711+1G>T??? I know it is a class 5 and I would like to know the severity of this mutation. Right now, she has no lung issues so far and is pushing 4 yrs. old
 
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Nikole

New member
class 5 mutation

Hello. I have a 3-1/2 yr. old daughter with CF. She was born with a bowel obstruction and lost an adequate amount of intestines at birth. She was tested for CF twice bc of this and both times was negative. When we moved to a new town, her new gastro wanted to test her again bc she had alot of malabsorption and tummy aches plus protrudring rectum while potty training. She tested positive genetically and then sweat test as well. Can anyone tell me if they know of anyone with a delta F508 mutation and a 711+1G>T??? I know it is a class 5 and I would like to know the severity of this mutation. Right now, she has no lung issues so far and is pushing 4 yrs. old
 
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