When you got the diagnosis, was there a counselor there? We had an amazing genetics counselor in the room and she explained it in terms I could understand. My son, Wyatt, has a deletion of 49 and 50. She explained it like this dystrophin is made up of chapters like in a book. Wyatt is missing chapters 49 and 50 so the "book" won't make sense. It's like reading a novel and 2 chapters being missing. My point (I ramble sometimes, sorry) you need someone "who does know (sounds like your doctor isn't sure)" to explain it to you. They owe you that much. Right now, you need to get the mutation information, that way you can find out about trials, treatments, etc. Our son was diagnosed when he was 10 months, (he's 19 months now). the 9 months has been a blur of learning new things everyday. This is a hard disease to understand fully, so don't feel bad if you "are in the dark". Your journey has just begun. I have found a lot of support on this site and I hope you do too. Good Luck. About moving, we thought about that too, but then we realized that where we live shouldn't stop us. We live in Washington State, but take Wyatt to Cincinnati Children's for his DMD related care.
Have a great night.
This is Carrie's husband Stan. I am a human geneticist at UCLA and we have a son with DMD who is now 8 as well. THe mutation means that there is a single base mutation of T to A at the base position 918 within the amino acid sequence of the gene. This changes the codon at amino acid number 306 which is normally tyrosine (encoded by TAT) which is changed to TAA. This is a stop codon and so your son may be eligible for the PTC124 trials. This is called an Ochre mutation or OCH which is the reason that they have the ' Tyrosine>OCH ' change listed above is from . That is a confusing way to list the mutation, but this is an in frame stop codon mutation, which could benefit from readthrough. This is also called a nonsense mutation. I am sorry for your son's diagnosis. Feel free to ask any questions. what part of the country do you live in. The University of Utah is participating in the most recent PTC124 trials and Kevin Flanigan is leading that at the Utah Clinic from our last information. Stan
Your doctor is right, there seems to be a point mutation at nucleotide 918, there is one stop or nonsense codon at 306. Each codon is a combination of three nucleotides (306 x 3 = 918), there are four types in DNA: C, T, A, and G. The 918th nucleotide should have been T and is in fact A, therefore the RNA can not translate the information into functional aminoacids that make the dystrophin protein. The 918th nucleotide should be somewhere at the beginning of the gene.
If I happen to be right, that should be good news for you, your son should be helped by PTC124 (Ataluren), that induces a read through of the stop codon. They're in phase II trials (or III already, I believe), and it seems to be working well.