Does anyone's sons have deletions of exons 6 and 7? Looking for ideas about what this means to the progression of my son's DMD.

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I asked my son's doctor that a while ago and was told that it doesn't matter what exon is missing. Some are more common than others, but I guess there is no information to suggest that one is worse or better than another. My son is missing exon 58. I haven't seen anyone on this website that had that exon missing. I've even pressed the whole cpk level issue as well because my son's was around 4,600 when diagnosed and most others are around 10,000 - 30,000 as diagnosis. Of course, I thought/hoped for sure that that would mean he would have a milder case, but they just don't know. Unfortunately, there are so many unknown's with this disease.
Thanks, Donna. The unknowns make it so hard!

Donna said:
I asked my son's doctor that a while ago and was told that it doesn't matter what exon is missing. Some are more common than others, but I guess there is no information to suggest that one is worse or better than another. My son is missing exon 58. I haven't seen anyone on this website that had that exon missing. I've even pressed the whole cpk level issue as well because my son's was around 4,600 when diagnosed and most others are around 10,000 - 30,000 as diagnosis. Of course, I thought/hoped for sure that that would mean he would have a milder case, but they just don't know. Unfortunately, there are so many unknown's with this disease.
We just saw Dr.Tseng in Boston and he said that deletion in this region of the gene tend to have a milder progression. But to keep a close eye on heart function.
My boys are about to turn 10 and 13 and are doing really well. We have exon deletion 3-7.
Eileen
Thought you guys might find this interesting:

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.
I joined to your community only yesterday. Last week i've received the results of test - the deletion in the 21 exon was determined (out of frame). do anybody have such mutation? Perhaps somebody knows how the deasese proceeds in this case?
Hoping for your answers.
hello I read in treat nmd that when the first exons are missing or the last the exon skiping treatment cannot be done
Even though the exon skiping has been very succesfull not all the kids are ellegible for this treatment. My son has a deleted the exon 3 and the 46-50 because of the exon 3 he is not ellegible for the exon skiping for what I read yesterday in treat nmd so the best thing is not to focused just on this treatment there is also the utrophin and I hope the biostrophin study will continue and they will find something to the inmune reaction.

Alejandra Lagffer said:
hello I read in treat nmd that when the first exons are missing or the last the exon skiping treatment cannot be done

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