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Not all in-frame deletions (at the DNA level) result in BMD.
In-frame = BMD is what the "reading frame rule" would say, and one study showed that that rule held true in 91% of the cases in the Leiden database.
hi jitka...my son has 6-29 missing...similar to yours...
what report are you referring to? also how old is your son and is he already on steroids?...did the doctors confirm him as DMD or intermediate DMD/BMD? was any biopsy done?
thanks.
Jitka Reineltová said:
My son has a deletion of exons 8-30, does anyone have a similar mutation? I found this great report on the deletion. Sorry for my English.
My son's neurologist says larger in-frame deletions most often lead to DMD. But on the Leiden pages you can see this doesn't always hold true, please check this link:
http://www.dmd.nl/DMD_deldup.html
See fx. Japan - deletion of exon 10-44 (35 exons) and USA - deletion of exon 2-43 (42 exons)
I have been told that in BMD there is some dystrophin present in the muscles, but in DMD there is none dystrophin. Has your son had a biopsy done?
To Jitka: My son (4 years old) has an out-of-frame deletion of exon 8-28, much similar to your son. If the exons skipping trials will result in a treatment, then skipping of exon 6 and 7 will restore the reading frame - and this should comply with an in-frame deletion of exon 6-28 - and hopefully lead to a more Becker-like course of the disease.
jackline, thanks for the info...although i was not able to get the two cases through the link you posted..that database seems a bit complicated to understand and sort....but from what you wrote i understand that you are trying to say that deletion of 10-44 and 2-43 are reported as BMD...
no we haven't had the biopsy..our first MDA clinic appointment is in a couple of weeks...
i am wondering if any in-frame boys are in any of the trials...
Jackline H. Johannesen said:
My son's neurologist says larger in-frame deletions most often lead to DMD. But on the Leiden pages you can see this doesn't always hold true, please check this link:
http://www.dmd.nl/DMD_deldup.html
See fx. Japan - deletion of exon 10-44 (35 exons) and USA - deletion of exon 2-43 (42 exons)
I have been told that in BMD there is some dystrophin present in the muscles, but in DMD there is none dystrophin. Has your son had a biopsy done?
To Jitka: My son (4 years old) has an out-of-frame deletion of exon 8-28, much similar to your son. If the exons skipping trials will result in a treatment, then skipping of exon 6 and 7 will restore the reading frame - and this should comply with an in-frame deletion of exon 6-28 - and hopefully lead to a more Becker-like course of the disease.
hi jitka...my son has 6-29 missing...similar to yours...
what report are you referring to? also how old is your son and is he already on steroids?...did the doctors confirm him as DMD or intermediate DMD/BMD? was any biopsy done?
thanks.
Jitka Reineltová said:My son has a deletion of exons 8-30, does anyone have a similar mutation? I found this great report on the deletion. Sorry for my English.
My son's neurologist says larger in-frame deletions most often lead to DMD. But on the Leiden pages you can see this doesn't always hold true, please check this link:
http://www.dmd.nl/DMD_deldup.html
See fx. Japan - deletion of exon 10-44 (35 exons) and USA - deletion of exon 2-43 (42 exons)
I have been told that in BMD there is some dystrophin present in the muscles, but in DMD there is none dystrophin. Has your son had a biopsy done?
To Jitka: My son (4 years old) has an out-of-frame deletion of exon 8-28, much similar to your son. If the exons skipping trials will result in a treatment, then skipping of exon 6 and 7 will restore the reading frame - and this should comply with an in-frame deletion of exon 6-28 - and hopefully lead to a more Becker-like course of the disease.
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