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Char, I don't know about duplications, but here is what AVI is working with, I believe, somewhat in the order below with more frequent deletions. These are the only ones that they have listed at the current time, at least that I can find. I believe they are working with or will soon with 50, 51, 44, and 53. That is all I could find for the current or future at this time (at least through news releases, recruiments, etc.). 53 is only listed in recruitments at this time. Hopefully, the legal process will come about that not every exon skipping will need tested individually. Only time will tell. Michelle
The relationship between exon skipping and the DMD deletions is shown below for some of the more frequent deletions in DMD
Exon skipped Repaired Deletions
51 45-50, 47-50, 48-50, 49-50, 50, 52
50 51, 51-53, 51-55
45 12-44, 18-44, 44, 46-47, 46-48, 46-49, 46-51, 46-53, 46-55
53 10-52, 45-52, 46-52, 47-52, 48-52, 49-52, 50-52, 52
44 10-43, 19-43, 30-43, 35-43, 36-43, 40-43, 42-43, 45, 45-54
8 4-7, 5-7, 6-7, 3-7,
55 47-54, 48-54, 49-54, 50-54, 52-54, 54, 56, 56-62
7 2-6,8-11, 8-17, 8-43, 8-45
52 53, 53-55, 53-57, 53-59, 53-60
17 12-16, 18, 18-20, 18-22, 18-25, 18-27, 18-29, 18-33, 18-36, 18-38, 18-41, 18-44
If your son has exon 52 deleted, he needs skipping of exon 51 as indicated in the chart above, so he is in line for current testing. Michelle
This is what I am confused about...I thought if 52 was the one "deleted" or missing, they woudl skip from 51 to 53, hence skipping over 52. You and one other person has both told me they would skip 51 but if they do that, wouldn't that make it go to 52 which is not there??? Sorry to be a little "dumb" about this...I guess I am a little confused with it. Thank you so much for helping me get a grasp on this...Take care
JoAnne
Kelvinsmom - Michelle said:If your son has exon 52 deleted, he needs skipping of exon 51 as indicated in the chart above, so he is in line for current testing. Michelle
This is what I am confused about...I thought if 52 was the one "deleted" or missing, they woudl skip from 51 to 53, hence skipping over 52. You and one other person has both told me they would skip 51 but if they do that, wouldn't that make it go to 52 which is not there??? Sorry to be a little "dumb" about this...I guess I am a little confused with it. Thank you so much for helping me get a grasp on this...Take care
JoAnne
Kelvinsmom - Michelle said:If your son has exon 52 deleted, he needs skipping of exon 51 as indicated in the chart above, so he is in line for current testing. Michelle
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