osteogenesis imperfecta

  1. Hello group!
    I'm wondering if anyone has any intimate knowledge of OI. I know the basics, and have a pretty good understanding of the pathophysiology, but my question is more toward the genetic aspect of it.
    I know OI is autosomal dominant. However, I'm wondering if its a heterozygous or homozygous autosome. Does anyone know?
    I know its an obscure question, and this isn't for any school-related issue, more for a personal one.
    Perhaps this is something I would only glean from a genetics counselor. I appreciate any input or ideas of where to go from here.
    I probably should have posted this under ortho, but that forum doesn't get much activity.
    Thanks in advance!
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  3. by   OB/GYN NP
    I don't know the answer to your question myself, but I found this website:http://www.oif.org/site/PageServer?pagename=Genetics

    Not sure if you may have found this one already, but there's a link at the top of the page that says Medical Professionals. I didn't read throught the whole thing, but it looks like they offer an e-mail address for Health Care Professionals who have questions. Maybe this would help? Good luck in your search!
  4. by   KRVRN
    Also try posting it under the peds nursing or PICU nursing forums.
  5. by   NicuGal
    Most cases of OI are caused by a dominant genetic defect. Some kids with OI inherit the disorder from a parent. Other children are born with OI even though there is no family history of the disorder. In these children, the genetic defect is just a spontaneous mutation.

    Because the defect--whether inherited or due to a spontaneous mutation--is usually dominant, a person with OI has a 50 percent chance of passing on the disorder to each of his or her children.
  6. by   canoehead
    It doesn't matter if the child is homo or hetrozygous because the trait is dominant and in either case it will be expressed.
  7. by   delirium
    I know the trait will be expressed in the person with the disease, my question was if it will be expressed in the offspring of the person with the disease, in which case it does matter if its heterozygous or homozygous.

    Thanks for the info, everyone....... I'll check out the website.