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Originally Posted by southblues
I just looked that up. Since it is an autosomal dominant disorder, and there is no family member with the disorder in my case, that cannot be what it is.
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I don't know anything but what I google, but I see that the disease can be recessive as well. Also, there's the possibility of a de novo mutation (that means that the person who has the disease didn't inherit it, but is the first person to have the gene). But I read that:
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The proportion of cases caused by de novo mutations is unknown, but appears to be small.
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http://www.ncbi.nlm.nih.gov/books/NBK1126/
Abby