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My brother met with a genetics specialist yesterday. She told him that if he didn't have the VHL gene, then his children would never have to worry about having it either, neither would their children and so on and so forth. Is that true? If my brother doesn't have the gene his entire bloodline after him will never get it?
M
That's my understanding too. In my case my brother and I got the gene and our sister didn't. The vhl Family Alliance published an article on this called, "The Roll of the Dice."
this is also our understanding i have vhl and had my daughter tested when she was 4 and her test came back that she doesnt have it so that the end of the line there for her .My son who is 2 goes for his test in august and we are hoping and praying that he also comes back without it and that would be the end of the line for my kids .My brother and sister and myself were all diagnosed with vhl so my parents didnt get a reprieve from it just hope that the grand kids can escape it also.
as far as i know VHL is most likely inherited and there is a 50/50 chance and it doesn't matter what sex you are or anything like that. As the genetics lady at Great Ormond Street said, 'chance doesn't have a memory'
But VHL is a genetic mutation that in theory can start anywhere and so as ridiculously unlikely as it is, there is always the chance that someone can have that mutation and be the first in the line who pass the gene on to offspring. The sort of thing that happens in 'House' and not the real world.
My son is the only member of our family with VHL.
I believe I have the numbers right on this - 20% of the time it IS a genetic mutation that presents in only one person in the family. 80% of the time it is inherited.
Regardless of which way VHL is acquired, the odds of passing it on to offspring are 50/50.
So it DOES happen in the real world, not just on tv.
All the above is true. Let me clarify:
A person who has the condition called VHL has one perfectly formed copy of the VHL gene, and one that has a tiny misspelling in it.
When you have a baby, you pass one of your two copies of the gene to the child -- either the perfect one, or the one with the misspelling in it.
If the child inherits the copy with the misspelling, then he or she has the condition called VHL.
If the child inherits the copy without the misspelling, then both his or her copies of the VHL gene are perfect. When this person has a child, one of the two perfect copies of the VHL gene will go to the grandchild -- neither of which has a misspelling. At this point the odds of the grandchild having VHL go back to the odds in the general population, which are lower than the odds of having triplets the old-fashioned way, or in the realm of winning the lottery. In other words, too small to worry about.
Now, second case. If we look at all the people who have a diagnosis of VHL, about 20% of those are the first person in their family ever to have VHL. These are the folks who "won the lottery". Once they have a gene with a misspelling in it, their children are at 50% risk of having the VHL syndrome, as above.
Bottom line: if you don't have an altered VHL gene, you cannot pass it to your children. So the genetics specialist in the original question is correct. As long as the DNA test is accurate, that is true.
Best wishes,
Joyce
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