Athena test came back negative, biopsy confirmed DMD

Hi Everyone

 

Our doctors were less than helpful in explaining to us why this happened. I'm hoping someone can tell me or at least point me in the right direction for me to understand why these test came back negative.

 

What does this say about the type of dmd my son has? Its just an unknown type? He took the full athena test that looks for mutations, deletetion, duplications, etc.

 

Thank you

Luis

 

 

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Luis,

It means that they weren't able to identify your son's particular mutation/deletion/duplication that is resulting in your sons DMD diagnosis. Our son Jonathan is 20 and has had 4 different DNA tests and they still haven't been able to find his. It is frustrating. I think Dr. Kevin Flanigan @ Nationwide Children's in Ohio might be able to help. My son also has seizures which have returned after a 3 1/2 year time with no seizures, so we have put the DNA search on the back burner for now.

Susan

Hi Luis,

Our son's molecular genetics report states that the testing used (quantitative multiplex-PCR analysis) detects approx. 70 % of the mutations in the dystrophin gene. That means the tests is not specific enough in 30% of cases to detect the mutation. It sounds like your son falls into this category. Very frustrating indeed.

Andrea

Susan - I'm sorry to hear that about Jonanthan. I hope things will get better.

 

Andrea - From what I understand there are two test. One detects 70% and the other 30%. My son is in the 10% that is unknown. At least for now.

 

 

 

 

Luis,

Oh, thanks for that info.

A.

 

Andrea - From what I understand there are two test. One detects 70% and the other 30%. My son is in the 10% that is unknown. At least for now.

 

 

 

 

.

Hi Luis,

 I'm so sorry to hear about your son and I feel your frustration. I'm where you are now with our son Anthony but I'm starting to get answers finally. Our son who is 5 was just diagnosed 3 months ago. He had a high CPK of 13,300 and our Dr. sent us for a DNA test. The doctor used Athena and our son had no deletetions or duplications but our former MD Dr. was at least competent enough to order a direct sequencing or SCAIP - single condition amplification/internal primer it is a straightforward and effective method but it is rather costly it’s a two-stage process PCR (Polymerase Chain Reaction) of all exons (allowing the test to detect an additional 2% of deletion cases which are missed by multiplex PCR). In patients without deletions of one or more exons, the test directly sequence’s the entire coding region of the dystrophin gene. This allows the test to readily detect:

  •  
    • Premature stop codon mutations
    • Small (<1 exon in size) deletions,insertions, and duplications
    • Missense mutations

  and direct sequencing or SCAIP is not done by Athena unless it is ordered because of the cost. Our son's direct sequencing test showed a stop coden wihich stops the dystrophin from being made at the point of the stop coden. Our Dr. couldn't explain this to us to our satisfaction and told us it didn't matter so with the help of the PPMD community we found Dr. Brenda Wong at Cincinnati Children’s Hospital who by all in the know is one of the top experts if not the top expert on DMD she also is involved in a lot of research on DBMD.. She sees 300 to 400 DBMD boys a year from all over the world compared to less then 20 many so called specialists see. She runs one of only a few multi disciplinary clinics in the world. Dr. Wong does not use Athena. Our son is having his biopsy done on Monday and to find out how much dystrophin he has so a correct diagnosis can be made since he has no deletetions or duplications but a stop coden and does not present as a typical 5/6 year old with DMD should. Dr. Wong ordered a western blot. Only this test can show how much dystrophin is present and the quality which will tell for sure which type of dystrophy our son has. Most Dr.'s don’t order this when a biopsy is done again they don't think it matters but it does.  Sorry to be so long winded but I don't want another parent to go through what we went through. I don't know where you live but go see Dr Wong at least one time and you will get all your questions answered and become much more informed on how to make sure your son has the best possible quality of life.. Good luck and we will keep Jonathan in our prayers

Jonathan did have a muscle biopsy which showed no dystrophin in the sample tested. At this point Jon's Drs feel he is more of a Beckers, but who knows. From what I understand there may be as many as 5% of boys that they may never be able to determine the exact mutation/deletion/duplication. I am sure as time goes on that will change. We have spoken with a researcher @ UCLA who wants to take a skin biopsy and do some manipulation and test it. When we get these seizures under control we are going to talk to him again.

 

Susan

Hi Luis,

 

My son's DNA was tested first through the more conventional ways (PCR) and no duplication or deletion was found, Then we started reading about the so called "DOVAM" tests (Detection of Virtually All Mutations). We live in Argentina and we had to send my son's DNA to City of Hope, in Duarte, California, where they found a nonsense mutation in exon 7 (a point mutation). Later on, when we were contemplating enrolling my son in the PTC 124 trials (we finally couldn't), we sent another DNA sample to the University of Utah Genome Center, where they confirmed the specific mutation in Exon 7. In order to find these types of mutations they have to perform a full sequencing of all 79 exons. I don't know if the Athena test that your son took did that full sequencing, although it sounds like it did. My understanding is that wtith these new full tests they are able to find almost all possible mutations, so perhaps it would be worthwhile to ask a genetic counselor if it might me worthwhile to repeat the full test at a different lab, such as City of Hope or the University of Utah. Hope you are able to find out, as there may be drugs (like Ataluren, the former PTC 124), which are designed to act only when there is a nonsense mutation causing a premature stop codon. All this is in line with what Jennifer says in one of the previous messages. The "SCAIP" method is a more scientific way of referring to the so called DOVAM tests. A full sequencing at Utah's lab costs $1,175 according to their site. Regards. Bernardo

If you haven't done so yet register your son on the Duchenne Connect patient registry site. They have genetic counselors that can help you figure out what tests to try, they will work with your drs. too.
Susan's right.  The genetic counselors at Duchenne Connect are fairly helpful, and are willing to take your calls multiple times which is helpful if, like me, you understand part of what they tell you, think about the rest and then have even more questions.

Susan Rathfelder said:
If you haven't done so yet register your son on the Duchenne Connect patient registry site. They have genetic counselors that can help you figure out what tests to try, they will work with your drs. too.

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