Gene Mutations

By Lainey's Mom Latest Activity April 4, 2013 at 1:43 pm Views 737 Replies 11 Likes 1

Lainey's Mom

I have a question for anyone and everyone! I was talking to someone and they said that they have only heard of people having 2 mutations of the CF gene. Our daughter had the genetic testing done when she was diagnosed at birth and we were told she had 3. The report shows the Delta F508, a M470V and an L1156L. I know the majority of CF'ers out there have the Delta F508. I have found very little info on the other 2 mutations. Our report says that the M470V mutation is benign and not expected to have "clinical significance". The other gene, the L1156L says unknown and it has some comments but they are not understandable to a normal human being! LOL!

Does anyone else have 3 or have the M470V or L1156L mutations?

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Replies (11 replies)

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  • Red9927
    Red9927 April 30, 2013 at 8:38 am   

    I am so glad to hear Lainey is asymptomatic. Prevention is good! As a child (and adult!) I had terrible seasonal allergies which added to my symptoms. Hope Lainey continues to do so well! Keep us posted!

  • Red9927
    Red9927 April 30, 2013 at 7:41 am   

    My twins both have a touch of asthma and allergies, both were tested and are carriers. How is your daughter doing, does she have any symptoms? (I'm curious too how others with similar mutations are doing!)

  • Lainey's Mom
    Lainey's Mom April 30, 2013 at 8:02 am   

    Lainey is 100% asymptomatic. No regular medications, no regular breathing treatments. She was just ordered her first vest but it is more as a proactive thing than anything else. Her specialist wants to start her doing it now so that if she needs it as a teenager, she is already doing it as a normal routine. She also wants her to start Pulmyzyme all the time. Same thing, proactive not because she needs it.

  • Red9927
    Red9927 April 30, 2013 at 7:06 am   

    Oops, sorry for the double post

  • Red9927
    Red9927 April 30, 2013 at 6:39 am   

    I am considered to be on the mild end of symptoms (d1152h is also considered to cause milder symptoms). I am pancreatic sufficient. I am 43 and wasn't diagnosed until three years ago, after negative sweat tests genetic testing showed my mutations. As a child I had a rather chronic cough with multiple pneumonias but only one hospitalization. After a bout of pneumonia in my 20's I was diagnosed with bronchiectasis. My lung function is 60%. I also have pseudomonas so do TOBI as well as pulmozyme. I live a full life as a wife and mother of twin boys and also am able to work part time. Knowing your daughters mutations won't necessarily predict her future but I think had a been diagnosed as a child (the technology wasn't available yet) I could have avoided the permanent damage of bronchiectasis. Keeping up with my treatment and exercising will help me stick around to see grand kids!!! Hope this helps, feel free to ask any questions!

  • Red9927
    Red9927 April 30, 2013 at 6:37 am   

    I am considered to be on the mild end of symptoms (d1152h is also considered to cause milder symptoms). I am pancreatic sufficient. I am 43 and wasn't diagnosed until three years ago, after negative sweat tests genetic testing showed my mutations. As a child I had a rather chronic cough with multiple pneumonias but only one hospitalization. After a bout of pneumonia in my 20's I was diagnosed with bronchiectasis. My lung function is 60%. I also have pseudomonas so do TOBI as well as pulmozyme. I live a full life as a wife and mother of twin boys and also am able to work part time. Knowing your daughters mutations won't necessarily predict her future but I think had a been diagnosed as a child (the technology wasn't available yet) I could have avoided the permanent damage of bronchiectasis. Keeping up with my treatment and exercising will help me stick around to see grand kids!!! Hope this helps, feel free to ask any questions!

  • Lainey's Mom
    Lainey's Mom April 30, 2013 at 7:12 am   

    That is good information. That is crazy that you were not diagnosed until 3 years ago. I know that knowing her mutations won't necessarily predict her future but when you said you had two of the same mutations, I was intrigued to find out what symptoms that you had. Do either of your twins have CF?

  • Red9927
    Red9927 April 30, 2013 at 5:09 am   

    I have three mutations df508, d1152h, and m470v

  • Lainey's Mom
    Lainey's Mom April 30, 2013 at 6:17 am   

    You have 2 of the same mutations as my daughter. The Delta and the M470V. How are you doing? How severe have your symptoms been.

  • Viv's Gramp
    Viv's Gramp April 5, 2013 at 5:02 pm   

    John this is great information and advice. Thank you

  • John Living My Dreams With CF
    John Living My Dreams With CF April 5, 2013 at 8:22 am   

    Hi Lainey's mom,

    I think I have found some information on some genes for you! But its not very straightforward at all :(

    http://www.healthboards.com/boards/cystic-fib...

    The link above describes the one mutation your daughter has M470V and by the way there are only 2 mutations anyone can have with CF. You get one mutation from the mommy and one from the daddy.

    So with all that said here is a person asking a genetic person about what this M470V is and how it impacts CF. This person also has DF508.
    http://genetics.thetech.org/ask/ask146

    Also, going back to the CFTR database that I think I posted and sent to you here it is again if you forgot.
    http://www.cftr2.org/mutation.php?view=genera...

    M470V is now considered a CF mutation. So I am going to say that your daughters genes are Delta F508 and M470V not sure what this L1156L is though. But when you look at the CFTR database it says if you have M470V mutation combined with another CF mutation/gene then you are considered to not have CF. To me thsi is not true!!! As we know your daughter has had psuedomonias (PA) I am not sure if she is pancreatic suffiicent or not. But if she is pancreatic insufficient and taking enzymes she has CF. I am not sure about her sweat test either. If it was a positive test then she has CF. So there are some things to consider there.

    Question was your daughter tested blood test? How was this L1156L diagnosed in the blood test? Did you send the blood to Ambry genetics bc they test for over 1,000 mutataions?

    Ok, so ii have given you a lot of information here and I am sorry if its information overload. But I think you want to know what her mutations mean? I am assuming you want to know if she will have mild CF or full blown CF?

    I want to reassure a few things here. I have been living with this disease for 28 years and when I go to the doctor on a quarterly basis we never talk about my genes. I know that my supposed genes are considered mild. I have Delta F508 and a mild gene 3849+10kb. Supposedly, this combo is a mild form of CF. But do I believe any form of CF is mild NO. There are some forms that will be less severe than others but you still have CF. No two identical gene combinations result in the same outcomes of CF. I know a girl who is in her mid 30s with my exact same genes and we have different CF issues. So what I am getting at we can look at people and try to compare our self to them and say ok I guess I will have that same CF case as them but in reality we will not. It has a lot to do with how we take care of our bodies and I also believe there is something in people's DNA that does something to CF. You can find this to be true in families where at least 2 siblings have CF with the same genes and they have different CF issues. It is very strange that is why I say it has to do something with our DNA as well. Another thing to point out is that both me and your daughter have Delta F508 and Vertex is making progress on correcting that Delta F508 gene. In fact there is a phase 2 study looking at individuals with one copy of Delta F508 and administering the magical pills. As you know they are also in phase 3 study for Double Delta F508. But my dr has said you only need to correct one CF gene to be considered a carrier. So lets keep our fingers crossed and hope for the best on this research.

    At the end of the day I would say your daughter has CF and she may have a mild case not to sure though. But does it really matter??? What matters is you do everything in your power to put your gameface on every day and put your best foot forward. There will be good and bad days with this disease and you have to make sure there are more good days. So whatever CF throws at your family take the challenge and beat CF. As I have always said CF doesn't define us WE define our self.

    Stay strong moma! I hope this has helped. Message me anytime.

    http://livingmydreamswithcf.blogspot.com/

    John