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Thread: Delta F508 & G542X

  1. #11
    Jenrenea
    Guest
    My baby was just diagnosised with these two mutations. She's 1 month. We just started the enzymes, salt, and vitamins.

  2. #12
    Junior Member
    Join Date
    Aug 2017
    Posts
    2
    My son just diagnosised this mutation. He's 7 months old. Can you please write something about this mutation? Thank you

  3. #13
    Junior Member
    Join Date
    Aug 2017
    Posts
    2
    Also, he is just F508, not delta. Os it different or it is the same?

  4. #14
    Senior Member
    Join Date
    Sep 2009
    Posts
    2,733
    F508 is the same as Delta F 508.

    There are almost 2000 known mutations. Someone with CF has 2 mutations. 2000 X 2000 = 4,000,000 possible combinations of mutations. 3% may sound like a rare combination but more common than the 3% would sound like.
    Male 77 CF undetected until age 47. (First symptoms at age 3) Delta F508 & V562I with one copy of Variant 5T. 100% PI. MAC, CFRD.

  5. #15
    Junior Member
    Join Date
    Oct 2009
    Posts
    1
    All 3 of my cfers have this combo. All the same father and all different manifestations. I was also told G542X was the second most common mutation. Also told G542X usually involves the liver and in my case it has. I lost my first girl at 5 months. She was born with meconium ilius and lost most of her intestines. She had severe lung involvement and cirrhosis of the liver. The next cf child was a boy and he passed away when he was 15. Very severe cf. He had cepacia, cirrhosis and very compromised lungs. Also kidney failure and often septic. My next child with cf is a boy and he is now 17 and has only been hospitalized twice. He's got severe digestive issues including meconium ilius, DIOS, and CDiff. But a limited amount of lung disease although he does grow out cepacia every now again which he acquired from his brother but the cepacia hasn't given him a lot of trouble yet. He doesn't have cirrhosis but has fatty liver disease. All 3 from same mom and dad yet so different. So even if my children have the same gene mutations as other families the disease presents itself so differently it's not a perfect indicator!

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