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Deletions

Members: 237
Latest Activity: Feb 3, 2017

Discussions

Deletion of exon 44

Started by Rahul Deshpande. Last reply by Tuyet Lan Thi Tran Jul 26, 2014. 2 Replies

Exons 51-53?

Started by Kira Mullaly. Last reply by vishal wadhwani Jul 25, 2014. 9 Replies

Deletion of Exon 45 (Out of Frame)

Started by Tammy. Last reply by Ramya Srinivassan May 2, 2014. 15 Replies

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Comment by Ruth Griffith on April 13, 2012 at 7:13pm

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.

 

Comment by Keith Van Houten on April 13, 2012 at 1:38pm

Donna - your son has a deletion of 58, or needs a 58 skip?

Comment by Keith Van Houten on April 13, 2012 at 1:32pm

David -   

"Theoretic applicability of antisense-mediated exon

skipping for Duchenne muscular dystrophy mutations"  

 Annemieke Aartsma-Rus

Human Mutation, 2009

Comment by stephen beggs on April 13, 2012 at 1:19pm

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.

Comment by Donna on April 13, 2012 at 12:09pm

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...

Comment by David on April 13, 2012 at 12:03pm

Keith - where to you get your 8% statistic regading exon-45 skip? I've been looking for similar resource.

-David

Comment by Keith Van Houten on April 13, 2012 at 8:20am

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.

Comment by Andrew Kerr on April 12, 2012 at 11:09pm

Hi Jessica,

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:

http://www.actionduchenne.org/duchennepedia/article/15/exon-skipping

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.

Comment by Jessica Argueta Tucker on April 12, 2012 at 11:04pm

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?

Comment by stephen beggs on April 12, 2012 at 4:43pm

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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