My son had genome testing to find out the type of error he has. I asked the MDA doctor to tell me in terms i could understand (exxon 51,nonsense etc...) he doesnt know! How can he not know? Is this normal? He says that Isaiah has a stop codone and that he would qualify for exxon skipping. Does anyone know where i can get the answers i need?

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the dr should be able to give you a copy of the report from the testing. that report will give you the information you need to know to get and educated explanation. sadly it is believable that the dr doesnt know enough to interpret the report. however the report will tell you where the "stop codon" is and whether it is due to a point (single base) mutation or due to a deletion or a duplication. depending on the results your son could qualify for PTC's read through drug (currently in trials with promising early data) or for exon skipping (though depending on the location and details the trials could be ongoing/upcoing in the US or years away in development). Get a copy of the report and post the exact language and someone on this site can help you interpret or you can take to an educated Dr. to get proper interpretation.
I have the report and it is seven pages long. It says the inerpretation is positive and states:
This individual possesses one predicted x-linked recessive disease associated mutations in the DMD gene. this result in a male with a diagnosis of , or predisposition to developing a dystrophinopathy
DNA Variant 1: Transition C>T
Nucleotide Position: 1702
Codon: 568
Amino Acid Change: Glutamine>Amber (stop codone)
Variant Type:Predicted disease-associated mutation (hemizygous)

Does this help?

carrie said:
the dr should be able to give you a copy of the report from the testing. that report will give you the information you need to know to get and educated explanation. sadly it is believable that the dr doesnt know enough to interpret the report. however the report will tell you where the "stop codon" is and whether it is due to a point (single base) mutation or due to a deletion or a duplication. depending on the results your son could qualify for PTC's read through drug (currently in trials with promising early data) or for exon skipping (though depending on the location and details the trials could be ongoing/upcoing in the US or years away in development). Get a copy of the report and post the exact language and someone on this site can help you interpret or you can take to an educated Dr. to get proper interpretation.
I think this is a stop codon in exon 14. I need to double check the exon number.

What lab performed this test? They should know exactly what exon is involved, so you or your doctor could contact the lab.

Christina Kramer said:
I have the report and it is seven pages long. It says the inerpretation is positive and states:
This individual possesses one predicted x-linked recessive disease associated mutations in the DMD gene. this result in a male with a diagnosis of , or predisposition to developing a dystrophinopathy
DNA Variant 1: Transition C>T
Nucleotide Position: 1702
Codon: 568
Amino Acid Change: Glutamine>Amber (stop codone)
Variant Type:Predicted disease-associated mutation (hemizygous)

Does this help?

carrie said:
the dr should be able to give you a copy of the report from the testing. that report will give you the information you need to know to get and educated explanation. sadly it is believable that the dr doesnt know enough to interpret the report. however the report will tell you where the "stop codon" is and whether it is due to a point (single base) mutation or due to a deletion or a duplication. depending on the results your son could qualify for PTC's read through drug (currently in trials with promising early data) or for exon skipping (though depending on the location and details the trials could be ongoing/upcoing in the US or years away in development). Get a copy of the report and post the exact language and someone on this site can help you interpret or you can take to an educated Dr. to get proper interpretation.
Athena Diagnostics did the test, but the mda doctor is (supposed to be) researching it to try and figure it out. I am just tired of them telling me they are going to do something and then they dont. I have been asking them for the muscle biopsy report for over a year now and still have not recieved it. I appreciate you taking the time to try and help me.

Ofelia Marin said:
I think this is a stop codon in exon 14. I need to double check the exon number.

What lab performed this test? They should know exactly what exon is involved, so you or your doctor could contact the lab.

Christina Kramer said:
I have the report and it is seven pages long. It says the inerpretation is positive and states:
This individual possesses one predicted x-linked recessive disease associated mutations in the DMD gene. this result in a male with a diagnosis of , or predisposition to developing a dystrophinopathy
DNA Variant 1: Transition C>T
Nucleotide Position: 1702
Codon: 568
Amino Acid Change: Glutamine>Amber (stop codone)
Variant Type:Predicted disease-associated mutation (hemizygous)

Does this help?

carrie said:
the dr should be able to give you a copy of the report from the testing. that report will give you the information you need to know to get and educated explanation. sadly it is believable that the dr doesnt know enough to interpret the report. however the report will tell you where the "stop codon" is and whether it is due to a point (single base) mutation or due to a deletion or a duplication. depending on the results your son could qualify for PTC's read through drug (currently in trials with promising early data) or for exon skipping (though depending on the location and details the trials could be ongoing/upcoing in the US or years away in development). Get a copy of the report and post the exact language and someone on this site can help you interpret or you can take to an educated Dr. to get proper interpretation.
Hi Christina, this is Carrie's husband Stan. I am a human geneticist. Many of the MDA clinic doctors do not have really much experience with DMD genetics per se. The report from Athena indicates that there is a STOP codon where there should have been a codon that encodes for the amino acid Glutamine. This occured about one sixth of the way through the normal protein sequence. So your son's RNA instructs the protein machinery to stop making protein at that CODON (which is number 568) the shorter protein has no function. This is refered to as a nonsense mutation. Exon skipping would appear to be feasible because if exon 14 were removed, so would the stop codon and the protein would read through to the end and make a more functional dystrophin. However, the rarity of mutations at this location may make it so that oligo sequences targeted at this exon may not be developed for a while. The stop codon point mutation may be amenable to the emerging therapy called 'read through' for which PTC has developed a drug that can force the protien machinery to not stop at the nonsense codon. There is an ongoing clinical trial testing this new drug and additional trials will certainly be needed . Craig MacDonald, who is at UCDAVIS is one of the clinicians that is participating in these studies. Kevin Flanigan who is currently at University of Utah in Salt Lake City is also participating. Either of these locations may be possible given your Idaho location (not idealI would also suggest that you register Isaiah at the Duchenne Connect website and record his clinical details, as this site may be able to help you interpret results and to link you with potential therapeutic trials as clinicians begin to recruit for ongoing studies of the PTC compound and other therapies. It also allows researchers to analyze the group data more effectively to learn which mutations are more or less severe and to search for other genes in the genome that may modify DMD and lead to new thoughts on how to develop new therapies for our boys.
I know...some of the MDA doctors are not qualified.

Yes, it's stop codon in exon 14 and PTC124 which is in the last phase of clinical trial might help depending how this phase of trial goes and if it's approved by FDA. The early results were promissing. I do not know a lot about how this phase is going b/c my son doesn't have a nonsensic mutation, but there is a group of parents of boys in that trial here. Just look for PTC124 (ataluren).

Christina Kramer said:
Athena Diagnostics did the test, but the mda doctor is (supposed to be) researching it to try and figure it out. I am just tired of them telling me they are going to do something and then they dont. I have been asking them for the muscle biopsy report for over a year now and still have not recieved it. I appreciate you taking the time to try and help me.

Ofelia Marin said:
I think this is a stop codon in exon 14. I need to double check the exon number.

What lab performed this test? They should know exactly what exon is involved, so you or your doctor could contact the lab.

Christina Kramer said:
I have the report and it is seven pages long. It says the inerpretation is positive and states:
This individual possesses one predicted x-linked recessive disease associated mutations in the DMD gene. this result in a male with a diagnosis of , or predisposition to developing a dystrophinopathy
DNA Variant 1: Transition C>T
Nucleotide Position: 1702
Codon: 568
Amino Acid Change: Glutamine>Amber (stop codone)
Variant Type:Predicted disease-associated mutation (hemizygous)

Does this help?

carrie said:
the dr should be able to give you a copy of the report from the testing. that report will give you the information you need to know to get and educated explanation. sadly it is believable that the dr doesnt know enough to interpret the report. however the report will tell you where the "stop codon" is and whether it is due to a point (single base) mutation or due to a deletion or a duplication. depending on the results your son could qualify for PTC's read through drug (currently in trials with promising early data) or for exon skipping (though depending on the location and details the trials could be ongoing/upcoing in the US or years away in development). Get a copy of the report and post the exact language and someone on this site can help you interpret or you can take to an educated Dr. to get proper interpretation.
Thank you all SOOOO much for taking the time to help me! My sons doctor told me it wasnt a nonsense mutation and he wouldnt qualify for PTC124 and I was disappointed. I really appreciate it!
Hi Christina! My family and I also live in Idaho, we are in Twin Falls. Tanner who is 4, was diagnosed in July of this year. Do you go and see Dr. Friedman? If so, what do you think of him? You can message me privately if you would like, I just have a few questions for you. I feel like he is not very proactive, and it really concerns me, we have only seen him 3 times.....but I dont know. We go to see him again on the 13th next month and I really want to go in armed with lots of research.

Kim

Christina Kramer said:
Thank you all SOOOO much for taking the time to help me! My sons doctor told me it wasnt a nonsense mutation and he wouldnt qualify for PTC124 and I was disappointed. I really appreciate it!
Thank you for all this wonderful information. Do you know how I can get in contact with Dr. Flanigan?

carrie said:
Hi Christina, this is Carrie's husband Stan. I am a human geneticist. Many of the MDA clinic doctors do not have really much experience with DMD genetics per se. The report from Athena indicates that there is a STOP codon where there should have been a codon that encodes for the amino acid Glutamine. This occured about one sixth of the way through the normal protein sequence. So your son's RNA instructs the protein machinery to stop making protein at that CODON (which is number 568) the shorter protein has no function. This is refered to as a nonsense mutation. Exon skipping would appear to be feasible because if exon 14 were removed, so would the stop codon and the protein would read through to the end and make a more functional dystrophin. However, the rarity of mutations at this location may make it so that oligo sequences targeted at this exon may not be developed for a while. The stop codon point mutation may be amenable to the emerging therapy called 'read through' for which PTC has developed a drug that can force the protien machinery to not stop at the nonsense codon. There is an ongoing clinical trial testing this new drug and additional trials will certainly be needed . Craig MacDonald, who is at UCDAVIS is one of the clinicians that is participating in these studies. Kevin Flanigan who is currently at University of Utah in Salt Lake City is also participating. Either of these locations may be possible given your Idaho location (not idealI would also suggest that you register Isaiah at the Duchenne Connect website and record his clinical details, as this site may be able to help you interpret results and to link you with potential therapeutic trials as clinicians begin to recruit for ongoing studies of the PTC compound and other therapies. It also allows researchers to analyze the group data more effectively to learn which mutations are more or less severe and to search for other genes in the genome that may modify DMD and lead to new thoughts on how to develop new therapies for our boys.
kflaniga@genetics.utah.edu
801 581 4422 (try this but not sure if its direct or not)

Christina Kramer said:
Thank you for all this wonderful information. Do you know how I can get in contact with Dr. Flanigan?

carrie said:
Hi Christina, this is Carrie's husband Stan. I am a human geneticist. Many of the MDA clinic doctors do not have really much experience with DMD genetics per se. The report from Athena indicates that there is a STOP codon where there should have been a codon that encodes for the amino acid Glutamine. This occured about one sixth of the way through the normal protein sequence. So your son's RNA instructs the protein machinery to stop making protein at that CODON (which is number 568) the shorter protein has no function. This is refered to as a nonsense mutation. Exon skipping would appear to be feasible because if exon 14 were removed, so would the stop codon and the protein would read through to the end and make a more functional dystrophin. However, the rarity of mutations at this location may make it so that oligo sequences targeted at this exon may not be developed for a while. The stop codon point mutation may be amenable to the emerging therapy called 'read through' for which PTC has developed a drug that can force the protien machinery to not stop at the nonsense codon. There is an ongoing clinical trial testing this new drug and additional trials will certainly be needed . Craig MacDonald, who is at UCDAVIS is one of the clinicians that is participating in these studies. Kevin Flanigan who is currently at University of Utah in Salt Lake City is also participating. Either of these locations may be possible given your Idaho location (not idealI would also suggest that you register Isaiah at the Duchenne Connect website and record his clinical details, as this site may be able to help you interpret results and to link you with potential therapeutic trials as clinicians begin to recruit for ongoing studies of the PTC compound and other therapies. It also allows researchers to analyze the group data more effectively to learn which mutations are more or less severe and to search for other genes in the genome that may modify DMD and lead to new thoughts on how to develop new therapies for our boys.
You can try him there, but he is in the process of moving his office to Ohio. I know he ran clinic here in Utah two weeks ago, but he was planning on being in Columbus by November.

Dr. Jacinda Sampson has worked with Dr. Flanigan for the past several years and we plan to continue taking Ewan to the U of U clinic to see her. We'd love to go to Ohio to continue seeing Dr. F., but the costs would be too prohibitive. I would suggest setting an initial appointment with her, at least, and see how you like her.
http://medicine.utah.edu/neurology/faculty/sampson.htm

carrie said:
kflaniga@genetics.utah.edu
801 581 4422 (try this but not sure if its direct or not) Christina Kramer said:
Thank you for all this wonderful information. Do you know how I can get in contact with Dr. Flanigan?

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