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    9 years since borderline sweat & 1 gene mutation found. Retest??

    “You might want to get your genes sent to ambry in California who can run the entire sequence of Chromosome 7 where CF occurs. We are seeing less severe types of CF in people.” This is the best solution if cost is not an issue. Sequencing is getting cheaper and cheaper with the advancement of...
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    Son is a CF carrier- Neither husband or I are?

    Based on my understanding, your son inherited one chromosome with 5 T (polypyrimidine tract in intron 8) and another chromosome with 7 T in the CFTR gene. This means that he has the alleles 13 TG and 12 TG (TG repeat tracts), which are immediately behind the T tracts and are binding sites for...
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    Classic CF class 1 and 2 mutations, no symptoms

    CFTR is ultimately responsible for the symptoms, but it has modifier genes that will affect penetration of the mutations.
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    f508 and 5T - looking for CRMS experiences

    Sorry to hear the screening result. Your daughter has one copy of functioning CFTR, but the expression of this one copy is determined by another protein called TDP-43. Newborns have high TDP-43 expression, and normally would gradually lose it when they grow, which may explain the sweat test...
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    I am surprised that they did not send you to a GI specialist earlier after they heard you felt lucky to go 4-6 a month. How could you survive this? Once a week sounds so wrong. If you are truly "heterozygous delta f508", your condition might be explained by mutations in CFTR modifier genes...
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    Possible New Diagnosis at 51 - Have Questions - Please Help

    Hi mikej460, I am working on developing new drug for the treatment of CF. Would you like to share the kind of mutation that you carry? I am guessing it's the TG12-T5 or TG13-T3, or a combination with other mutations, but I might be totally wrong.
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    c.1210-12T 5T mutation

    The 12T5 (5T) allele is a strong binding site for a protein called TDP-43. The carrier will probably not get CF if TDP-43 is kept low like in normal people. But if somehow the expression of TDP-43 gets higher, it will bind to the 5T site and cause exon 9 skipping.The resulting protein will be...