Latest Activity: Feb 3, 2017
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Went to a talk on exon-skipping drug last night and turns out my son's deletions (65-67) are too close to the end of the gene for exon-skipping to help him.
Donna - your son has a deletion of 58, or needs a 58 skip?
"Theoretic applicability of antisense-mediated exon
skipping for Duchenne muscular dystrophy mutations"
Human Mutation, 2009
thanx keith, appreciate it, just a waiting game now, but am hopeful now that something pretty soon down the line will be there for us with one approach or another, brilliant site by the way, really helpful and supportive.
Has ANYONE ever heard of Exon 58 being skipped?? That's what my son is and I have NEVER seen anyone on this site anyway, with this deletion. I don't know if this is good or bad or indifferent...
Keith - where to you get your 8% statistic regading exon-45 skip? I've been looking for similar resource.
Stephen - yes, an exon 45 skip would restore the reading frame of a 46-49 deletion. Exon 45 is the 2nd most commonly needed exon skip, and applies to about 8% of all mutations.
My sons have a deletion of 45 as well, and yes, skipping exon 44 is what we're waiting for. Have a look at the diagram here:
See how each exon sort of fits the one next to it? Now look at exon 45. Without it, you can see that 44 doesn't fit with 46. The result is that no dystrophin is produced. Now, if we also remove (skip) exon 44, you can see that exon 43 will fit into exon 46.
If that's not clear, please let me know and I'll try and give you a more detailed explanation.
Still confused about the whole skipping thing. My son has deletion 45, I think this means that we would need skipping of 44? I don't get it. Can anyone explain this in simple terms for me?
hi folks, just checking if any other families have deletion 46-49 , think it is fairly common and amenable to exon 45 skipping currently in trial with both GSK/Prosensa and AVIBiopharma. would appreciate any feedback. Also for advice on giving idebenone to a 6-7 year old boy? dosage range? possible side effects? therapeutic benefits? and best place to purchase from UK. many thanx to you all. Stephen Beggs
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