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Hi Trendymum, I can help shed some light on this topic for you but i'm no expert. There are several types of mutations (errors) that can affect the dystrophin gene. One of these mutations are deletions in the gentic code which forms the protein dystrophin. There are 79 exons in the dystrophin gene which forms this protein. My son has deletion of exons 45-47 (in-fame) which means the reading frame remains in tack and some dystrophin is produced. About 80% of Becker cases have deletions. There are other mutations that can cause Beckers as well. 5% of becker cases are duplications and 10% - 15% are small point mutations. Small point mutations include nonsense mutations that create early stop signals to the gene, splice mutations that may alter the reading frame, and missense mutation, which are rare changes that may compromise the gene function. duplications would mean a repeat of an exon or exons. These are the different type of mutations that can occur in the dystrophin gene. Your son doesn't have a deletion which means he has one of the other two types of errors that may occur. It's important to know your son's exact mutation as there are several treatments now on the horizion that could help your son.. Maybe in 5 years. I would suggest talking to a genetic councellor find out this information.
Hope this helped and didn't confused you. :) |
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Roxanne Mom to Nicholas (10) with BMD |
