starseeker
New member
Heya everyone!
My son's second mutation has recently been identified (it's in the subject) and I was wondering if anyone could give me a better idea about what it means for him? His other mutation is deltaF508, and he was not pancreatic insufficient until a couple of months after birth, but besides that and the salty sweat, has had no other symptoms present so far.
In the report, they said it was a "novel" mutation that apparently hasn't shown up in literature before. I quote: "in silico analysis indicates that this mutation causes a frameshift which creates a premature stop codon 11 bases from the duplication. This will result in premature terminations and truncation of mRNA transcripts".
Is it possible for anyone to decipher this, and what it could mean for my son?
Thanks very much!
My son's second mutation has recently been identified (it's in the subject) and I was wondering if anyone could give me a better idea about what it means for him? His other mutation is deltaF508, and he was not pancreatic insufficient until a couple of months after birth, but besides that and the salty sweat, has had no other symptoms present so far.
In the report, they said it was a "novel" mutation that apparently hasn't shown up in literature before. I quote: "in silico analysis indicates that this mutation causes a frameshift which creates a premature stop codon 11 bases from the duplication. This will result in premature terminations and truncation of mRNA transcripts".
Is it possible for anyone to decipher this, and what it could mean for my son?
Thanks very much!