Wasn't sure where to post this question. My son has been newly diagnosed with Becker - in-frame deletion of exon 30 - and I can't find any info about that, or any way to further my understanding of what that particular deletion means.

I know that there are differences based on where the deletion happens, but my grasp on everything isn't really there yet... and so it seemed like a good idea to try and find data on other patients with the same deletion, but - no luck. I don't know where to look! Can anyone help? Thanks if you can.

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Thank-you. That was helpful, and I clicked my way over to actionduchenne.org and found this:

"The severity of Beckers varies greatly, much of this variation is probably due to where the deletion occurs within the chain of exons, and how large that deletion is." ...  but I still can't find any further explanation on what exon 30 specifically means. Perhaps I'm just not doing a good job of searching here. (But I'm usually pretty good - perhaps the new subject matter is too challenging for me and I'm searching for the wrong things or something)

This is where I found the above. http://www.actionduchenne.org/duchennepedia/article/26/in-frame-and...

Thanks for helping me out!

Hello Frankie -- Have you been in contact with PPMD's Genetic Counselor & DuchenneConnect Coordinator Ann Martin? You can reach Ann at ann@parentprojectmd.org. DuchenneConnect.org is a great resource as well. 

No I haven't - I will email her, thank-you! I have actually been in touch with Johan den Dunnen (http://www.DMD.nl) who has helped me understand that although the deletion might be the same everyone differs on a molecular level.. even so, I'd be curious to know more. Thanks for replying, I appreciate it.

PPMD said:

Hello Frankie -- Have you been in contact with PPMD's Genetic Counselor & DuchenneConnect Coordinator Ann Martin? You can reach Ann at ann@parentprojectmd.org. DuchenneConnect.org is a great resource as well. 

and I've registered with duchenneconnect.org - thanks for that too

Frankie Butler said:

No I haven't - I will email her, thank-you! I have actually been in touch with Johan den Dunnen (http://www.DMD.nl) who has helped me understand that although the deletion might be the same everyone differs on a molecular level.. even so, I'd be curious to know more. Thanks for replying, I appreciate it.

PPMD said:

Hello Frankie -- Have you been in contact with PPMD's Genetic Counselor & DuchenneConnect Coordinator Ann Martin? You can reach Ann at ann@parentprojectmd.org. DuchenneConnect.org is a great resource as well. 

Boys with the same deletion don't necessarily progress at the same rate. There are cases of brothers with the identical mutation that progressed differently. There are likely other genetic modifiers at play that science doesn't fully comprehend.

thanks Keith. I'm slowly grasping all this - I've now understood that detail and have even read myself about twins with the same mutation - one with symptoms, one without. I guess that doesn't help me to know more about what's going to happen.. it's difficult to come to terms with, this whole thing..

Keith Van Houten said:

Boys with the same deletion don't necessarily progress at the same rate. There are cases of brothers with the identical mutation that progressed differently. There are likely other genetic modifiers at play that science doesn't fully comprehend.

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