Rare Mutation - Help

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concerneddad

New member
I am new to this site (which, by the way, is incredible and full of great information) and am looking for some help if possible. My child was just diagnosed, at age 16 (almost 17). We just got the results of the genetic testing and the two mutations are w1282x (which I understand is common) and Q1291N (which the doctor said she was not familiar with and for which there is very little information). I am just curious if anyone has information on this other mututation. Thanks so much.
 
C

concerneddad

New member
I am new to this site (which, by the way, is incredible and full of great information) and am looking for some help if possible. My child was just diagnosed, at age 16 (almost 17). We just got the results of the genetic testing and the two mutations are w1282x (which I understand is common) and Q1291N (which the doctor said she was not familiar with and for which there is very little information). I am just curious if anyone has information on this other mututation. Thanks so much.
 
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Mommafirst

Guest
Hi concerneddad. I know this is overwhelming stuff. My daughter also has w1282x as one of her mutations. Its history seems to have eastern european and askenazi jewish connections. It associated with typical CF presentation and symptoms.

Are you sure the Q1291 has an N at the end. The quick search I did has nothing for the N at the end, but I did find a Q1291H at the end. The research indicates that this mutation is not entirely clear whether it is disease producing, however the case study with this mutation indicates that the patient did have recurrent lung issues and the need for enzymes, indicating that it is disease causing.

Best of luck trying to track down gene specific information. I know the need in the early days post diagnosis to get as much information as you can about what this all means for your child. In the end, though, you will find countless stories that prove that mutation is only one piece of a large puzzle in terms of how your child's CF will progress.
 
M

Mommafirst

Guest
Hi concerneddad. I know this is overwhelming stuff. My daughter also has w1282x as one of her mutations. Its history seems to have eastern european and askenazi jewish connections. It associated with typical CF presentation and symptoms.

Are you sure the Q1291 has an N at the end. The quick search I did has nothing for the N at the end, but I did find a Q1291H at the end. The research indicates that this mutation is not entirely clear whether it is disease producing, however the case study with this mutation indicates that the patient did have recurrent lung issues and the need for enzymes, indicating that it is disease causing.

Best of luck trying to track down gene specific information. I know the need in the early days post diagnosis to get as much information as you can about what this all means for your child. In the end, though, you will find countless stories that prove that mutation is only one piece of a large puzzle in terms of how your child's CF will progress.
 
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concerneddad

New member
Heather:

Thanks so much for your quick response. I am going to call the doctor tomorrow to both confirm the second mutation and request a copy of the report. We are scheduled to meet with the doctor and geneticist next week. As you say, we are just trying to get as much information as possible and get our arms around this as much as possible.

Thanks again.
 
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concerneddad

New member
Heather:

Thanks so much for your quick response. I am going to call the doctor tomorrow to both confirm the second mutation and request a copy of the report. We are scheduled to meet with the doctor and geneticist next week. As you say, we are just trying to get as much information as possible and get our arms around this as much as possible.

Thanks again.
 
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concerneddad

New member
We confirmed today that the second mutation is q1291H (not N). Still not a lot of information about it but at least we know this much. Thanks again.
 
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concerneddad

New member
We confirmed today that the second mutation is q1291H (not N). Still not a lot of information about it but at least we know this much. Thanks again.
 
K

Kevin_A

New member
concerneddad said:
We confirmed today that the second mutation is q1291H (not N). Still not a lot of information about it but at least we know this much. Thanks again.
Click to expand...

Hi. I know this thread is now a little old, but I found out about 4 months ago that I also have the Q1291H gene mutation. From what I've been told by my specialist it is pretty rare and in my case, very mild. I have it with the F508del mutation, but in my case I only have bronchiectasis and I have a ABPA infection.

I'm 35 by the way and only found out a few months ago that I have CF.

I wonder if this means we are somehow related?!?1 Wow....
 
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concerneddad

New member
Kevin A

Thanks for the info. Your story is quite interesting. Since my daughter was diagnosed, we found out that my mother in law has cf as well, diagnosed at age 73 with q1291h and f508del. She is the oldest to be diagnosed at her cf center. Also, unfortunately, my son (19) had a bout of pancreatitis and was found to have q1281h and w1282x mutations, the same mutations as my daughter, but no other symptoms (hopefully to stay that way).

I have done quite a bit research and it seems as if q1281h is more common in people of Scottish descent, which is the case with my mother in law. If you don't mind me asking, is that true in your case?

By the way, both my daughter and mother in law do daily treatments and are feeling better than they have in years.

Thanks again for responding and best of luck.
 
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Kevin_A

New member
Diagnosed at age 73!?! Wow, that is amazing. I thought my diagnoses at 35 was pretty old...

Interesting that both your mother in law and I have the same combination. What symptoms does she have? I can't imagine they are very strong considering she has been diagnosed so late.

I'm presuming you mean q1291h (as opposed to q1281h you mention above). If so, my family history is a little unknown after about 3-4 generations back but we do know they come from Scotland, but that is about it.

Thanks so much.
 
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concerneddad

New member
q1291h (not 1281). Sorry, typing on an iPhone is a challenge (should have kept my blackberry).

My mother in law has had sinus problems all of her life and a pronounced cough for the last 20 plus years (before treatment). She has bronchiectasis, pseudomonas and aspergillis (and maybe some other infections). She is pancreatic sufficient and treatments work well.

I know they are doing a study to see if kalydeco is effective on mutations with residual cftr function (like q1291h) so maybe there will be some good news in the near future.
 
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azmaveth

New member
Hey Kevin_A,

I am now 35, but was diagnosed in February of this year while I was still 34. I was in my fifth year of active duty military service in the Marine Corps by the time I found out I have CF. I'm out of the service now, but it just goes to show that every CF case is different. Mine was mild enough to allow me to make it through recruit training and Marine combat training.
 
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