Duplication: Spontaneous or Inherited?

 

Just wondering if everyone could respond and tell me if your son's duplication was the result of  a spontaneous mutation of if it was passed down from a previous generation? Also, if the mutation was passed down, how many generations past were affected with MD that you are aware of?

Thanks,

Dennis

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Permalink Reply by Terry Porcaro on March 24, 2011 at 2:05pm
I have two grandsons with a duplication.  My daughter is a carrier.  No one else in our family has DMD, and we never heard about any prior generations having it either.
Permalink Reply by Dennis Ray Kessler on March 24, 2011 at 3:08pm

Sorry to get get personal but can I ask how old is your daughter and have (the mother) you been tested.
Dennis, Thanks

PS. My grand-son (4 yrs old) has duplications also with no family history and my daugther is not a carrier.


Terry Porcaro said:

I have two grandsons with a duplication.  My daughter is a carrier.  No one else in our family has DMD, and we never heard about any prior generations having it either.
Permalink Reply by Terry Porcaro on March 24, 2011 at 4:04pm
My daughter is 39.  She was 32 when she had her first son, and 34 with her second.  No, I was never tested.
Permalink Reply by sharon Wilmot on March 24, 2011 at 5:28pm
I have 2 grandsons. One has DMD the other does not. No family history, and my daughter is not a carrier.
Permalink Reply by Gina Manning on March 24, 2011 at 9:29pm
I have 2 sons affected with DMD I am a carrier as was my mother.  My uncle died at age 16 from DMD, so my grandmother was a carrier. We also know a great uncle died from DMD, so that means my great grandmother was a carrier. If I ask any family members that are still alive, we feel the other males in the family that died young had symptoms, but were not diagnosed with DMD.  That is over 80 years of it in my family. I also have another son not affected and a daughter yet to be tested.  Hopefully she wasn't passed the bad x chromosome.
Permalink Reply by Susan Robertson on March 25, 2011 at 11:10am
I have two sons wih DMD, I am a carrier, no history of DMD in family we are aware of, don't know if my mother was a carrier since she was never tested and she is deceased now,  I also have a sister, she has not been tested, but her son 26 yrs old and daughter 22 yrs old do not have dmd, but since we are not sure why I am a carrier my niece plans on getting tested one day.
Permalink Reply by Tina Klingaman on March 27, 2011 at 10:40pm
I have a 17 year old son with duplications and no family history.  My 20 year old daughter is a carrier and the bloodwork says that I am not a carrier.  Although, the geneticist told me that it is still possible that I'm still a carrier.
Permalink Reply by Rebecca Saulsbury on March 27, 2011 at 11:16pm
My oldest son is 10 and has Duchenne (a deletion, not a duplication) and my younger son is 6, and does not.  My mother is not a carrier and I am, so it started with my birth. It strikes me just now as I write this, that if I had been born a boy, I would have Duchenne.
Permalink Reply by Andrea Cleary on March 28, 2011 at 9:18am
Exactly our situation too Rebecca.

Rebecca Saulsbury said:
My oldest son is 10 and has Duchenne (a deletion, not a duplication) and my younger son is 6, and does not.  My mother is not a carrier and I am, so it started with my birth. It strikes me just now as I write this, that if I had been born a boy, I would have Duchenne.
Permalink Reply by Joshua's mom on March 28, 2011 at 11:31pm
Joshua is 8 with duplications 8-25. I was tested and am not a carrier. We had no idea what this disease was until he was diagnosed at 6 weeks.
Permalink Reply by Mindy on March 29, 2011 at 12:24am
My son is 8 with DMD. I have a healthy son and healthy daughter via IVF with PGD, which is how I found out that I'm a germline carrier (it's in my eggs). It's in about 15% of them.
Permalink Reply by Char Burke on April 8, 2011 at 12:46am
Dennis - It's my understanding that mutations can be spontaneous or passed down on the X chromosome.  I read that it's about 2/3's passed down from the mom and  1/3 spontaneous.  But, you know statistics are only as good as the facts imput.  So, if there haven't been much definitive testing until say last ten years, then hard to measure if it reoccurred in your family if you were to go back in the family tree.  And, what if your ancestors had many years of just girls or the mutation skipped years.  You get the idea.  Also - the dystrophin gene is the biggest in the human body.  That being the case, I heard it's the most unstable so that seems logical that it would be subject to mutations.  You could look in the University of Leiden data base on mutations and I think duplications are about 20%.  Char Burke

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