c.1111dupA (p.Ile371AsnfsX11)

S

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!
 
S

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!
 
P

pencf

Guest
I went to conference last year about how the CF mutations are being classified now. To my recollection, there are 4 or 5 classes/categories of mutations. And I am positive that one of the 'categories' were mutations that are often called STOP mutations. My recommendation is to search information regarding STOP mutations related to the presentation of Cystic Fibrosis. My daughter has double copies of DeltaF508.
Good Luck and please share if you find out more information!
 
P

pencf

Guest
I went to conference last year about how the CF mutations are being classified now. To my recollection, there are 4 or 5 classes/categories of mutations. And I am positive that one of the 'categories' were mutations that are often called STOP mutations. My recommendation is to search information regarding STOP mutations related to the presentation of Cystic Fibrosis. My daughter has double copies of DeltaF508.
Good Luck and please share if you find out more information!
 
A

annapalazola

New member
Starseeker, What you are giving us, and it maybe because it's such a new found mutation is the nomenclature for the protein: c.1111dupA and nomenclature for the nucleotide: p.Ile371AsnfsX11 For dd508,nomenclature for the protein is p.Phe508del and for the nucleotide is: c.1521_1523delCTT

From what your write it seems to be a class II mutation or nonsense/stop mutation, it sort of like the CFTR didn't make it through the cell. In DF508, the CFTR, which is a deletion, class I mutation de CFTR is really not there.

What could me for your son? Absolutely nothing more than if in the future a cure is found, which is mutation driven, then you want to know what his mutations are, as is the case of Kalydeco which repontentiates the CFTR and function is up to 50%, only class III mutations work specifically G551D, other than that, there is nothing, nowhere that can tell you the phenotype(presentation of the disease) based on genotype, mutations present. Even siblings with same mutations present totally different diseases. There are patients double df508 that are doing absolutely great, working, getting married and there are some that never make it out of the hospital.

The only thing I can tell you is to educate yourself to the max, you are your son's only advocate, and most doctors are so overwhelmed with so many patients that patients become diluted. Don't believe everything you hear, your doctor is not a god, question and teach your kid to be just as vigilant as you are. Your kid is not an invalid, your kid can be a great, healthy, productive human being. Raise him as you would any other child, with the knowledge that we have today we are more empowered than ever and if you have to challenge anybody, do it. I have been threatened to be written up by a resident, I told her where do I sign but she was not going to touch my kid. That was years ago, my kid is 18 and in college, she can tell anybody a thing or two.

Your kid will be fine, he has been born at a great time, very exciting things are on the pipeline, stuff we haven't seen in forever!!!!
 
A

annapalazola

New member
Starseeker, What you are giving us, and it maybe because it's such a new found mutation is the nomenclature for the protein: c.1111dupA and nomenclature for the nucleotide: p.Ile371AsnfsX11 For dd508,nomenclature for the protein is p.Phe508del and for the nucleotide is: c.1521_1523delCTT

From what your write it seems to be a class II mutation or nonsense/stop mutation, it sort of like the CFTR didn't make it through the cell. In DF508, the CFTR, which is a deletion, class I mutation de CFTR is really not there.

What could me for your son? Absolutely nothing more than if in the future a cure is found, which is mutation driven, then you want to know what his mutations are, as is the case of Kalydeco which repontentiates the CFTR and function is up to 50%, only class III mutations work specifically G551D, other than that, there is nothing, nowhere that can tell you the phenotype(presentation of the disease) based on genotype, mutations present. Even siblings with same mutations present totally different diseases. There are patients double df508 that are doing absolutely great, working, getting married and there are some that never make it out of the hospital.

The only thing I can tell you is to educate yourself to the max, you are your son's only advocate, and most doctors are so overwhelmed with so many patients that patients become diluted. Don't believe everything you hear, your doctor is not a god, question and teach your kid to be just as vigilant as you are. Your kid is not an invalid, your kid can be a great, healthy, productive human being. Raise him as you would any other child, with the knowledge that we have today we are more empowered than ever and if you have to challenge anybody, do it. I have been threatened to be written up by a resident, I told her where do I sign but she was not going to touch my kid. That was years ago, my kid is 18 and in college, she can tell anybody a thing or two.

Your kid will be fine, he has been born at a great time, very exciting things are on the pipeline, stuff we haven't seen in forever!!!!
 
A

annapalazola

New member
I hope you are able to understand my post, it's horribly written, but ask if you have a question <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
A

annapalazola

New member
I hope you are able to understand my post, it's horribly written, but ask if you have a question <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
B

BleedOrange1968

New member
Can someone help me finding info bout my oddball genotype? I have f508 oddball is 3272-26a<g. I can't find much on it

44 w cf mid tenn
 
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