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Exon Deletion 3-7

Connect with other families with exon deletion 3-7.

Website: http://www.frontstep.us/Delong/mda.htm
Location: Derry, New Hampshire (You are Welcome to Visit)
Members: 29
Latest Activity: Nov 2, 2018

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Daughters of Carrier Moms

Started by Colin McKenzie. Last reply by Colin McKenzie Jun 13, 2011. 2 Replies

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Comment by Don Cooley on May 24, 2010 at 12:55pm
Wendy:
Hi I am Kathi from the Chicago area. My son Tyler is 14 and fits i this deletion. We just met with Dr. Wong last month and she said that she would get us in touch with a West Coast family that had the same deletion....as funds were needed to be raised to get the muscle biopsies to Dr. Wilton in Australia. Also to get all 28 patients to Cincinnati to get these biopsies all done at the same time. It looks like this is what your message is about.. If so let me know.
We are open to doing some fundraising quickly in Illinois. Also it would be great if we could somehow get a list of these 28 patients together and share the details. At that point we could all work together to get together whatever the need. Do you have an email address for Dr. Wilton.

Looking forward to hearing from you...Also on my Cincinnati visit I came up with a great quick fundraising idea....that another parent had some details about...We could all easily do and make the necessary funds.

Kathi Cooley
Comment by Wendy Bertellotti on May 24, 2010 at 11:08am
Hi all,
Hope you are well! I have some updated information on Dr. Wong's intention with research that involves all her patients, but our deletion will be first to need samples done. Please call if you want to talk about it more. My number is 760-522-6490. Wendy Bertellotti (in San Diego)
Comment by lisa burke on April 12, 2010 at 9:28am
This is interesting for you guys:

F Muntoni, P Gobbi, C Sewry, T Sherratt, J Taylor, S K Sandhu, S Abbs, R Roberts, S V Hodgson, M Bobrow
+ Author Affiliations

Department of Paediatrics & Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
Abstract
Deletions in the dystrophin gene give rise to both Duchenne and Becker muscular dystrophies. Good correlation is generally found between the severity of the phenotype and the effect of the deletion on the reading frame: deletions that disrupt the reading frame result in a severe phenotype, while in frame deletions are associated with a milder disease course. Rare exceptions to this rule, mainly owing to frameshift mutations in the 5' region of the gene (in particular deletions involving exons 3 to 7) which are associated with a milder than expected phenotype, have been reported previously. In order to characterise better the relationship between genotype and phenotype as a result of mutations arising in the 5' region of the gene, we have studied a large cohort of patients with small in frame and out of frame deletions in the first 13 exons of the dystrophin gene. Fifty-five patients with a deletion in this area were identified; approximately one third of them had a phenotype different from that theoretically expected. Patients were divided into two groups: (1) patients with a severe clinical phenotype despite the presence of a small, in frame deletion and (2) patients with a mild phenotype and an out of frame deletion. Noticeable examples observed in the first group were Duchenne boys with a deletion of exon 5, of exon 3, and of exons 3-13. In the second group we observed several patients with an intermediate or Becker phenotype and out of frame deletions involving not only the usual exons 3-7 but also 5-7 and 3-6. These data indicate that a high proportion of patients with a deletion in the 5' end of the gene have a phenotype that is not predictable on the basis of the effect of the deletion on the reading frame. The N-terminus of dystrophin has at least one actin binding domain that might be affected by the small, in frame deletions in this area. The effect of the in frame deletions of exon 3, 5, and 3-13 on this domain might account for the severe phenotype observed in these patients. Other mechanisms, such as unexpected effect of the deletion on splicing behaviour, might, however, also be implicated in determining the phenotype outcome.
Comment by Wendy Bertellotti on January 18, 2010 at 8:59pm
We'll be there in the middle of February, so I'll have to inquire myself. What a blessing Dr. Wong is to our family!
Comment by Tagni McRae on January 18, 2010 at 6:30pm
Very encouraging. I hope my son, who should be helped by skipping 8, might participate. At the very least, if this one is being studied, he and our boys may benefit.
Comment by KATHY TURNER on January 15, 2010 at 7:27pm
Thank you. I would appreciate hearing what she has to say.
Comment by Anessa Fehsenfeld on January 14, 2010 at 11:34pm
I just found your group. My 10 year old, Tyler, has the out of frame deletion 3-7. Dr. Wong told us back in October (2009) that she needed to start protocol for a study that skips exon 8. She said we would be contacted once protocol was complete...not sure what that means but it didn't seem like it would be much longer. I have a call in to her office to get more information since its been almost three months with no update. I'll pass on what I find out!
Comment by Lisa Groeger on November 4, 2009 at 7:00pm
Steve Wilton has been working on exons 3-7 for years now. It would be exon 8 that would be skipped. Unfortunately, at this time they.. meaning Glaxo et al.. are only interested in 51 and 44 the most common and therefore most profitable for them.. Rest assured Dr. Wilton is pushing the rest of the exons that are working in the lab which includes skipping of exon 8 to be developed for clinical trial..trying for big pharma to pick these other ones up as well..I have 2 boys with deletions in exons 3-7 as well..
Comment by Eileen DeLong on October 29, 2009 at 9:30am
I have been told by Dr.Wong in OH and Dr.Tseng in Boston that exon 8 would be the exon needing to be skipped. You should also take a look at the new link I just added at the bottom of the links, Günter Scheuerbrandt's latest update. It has links to tables which show all the need skipping. Lots of other great info too.
Comment by KATHY TURNER on October 28, 2009 at 8:34pm
Jeni, I think you're correct. If exon 7 is missing, then it looks like both exons 6 and 8 would need to be skipped in order to make an in-frame deletion.
 

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