Quote:
Originally Posted by kiwi33
Madmax80, I have been thinking a bit about your genetic issues.
As far as your familial dysautonomia is concerned, this, coupled with the fact that genetic testing has shown that you have the IVS20DS genotype means that both your copies of the IKBKAP gene (on chromosome 9) have this mutant form of the gene. This is because familial dysautonomia has what is called an autosomal recessive pattern.
I do not know if your wife has had similar testing for the IVS20DS genotype but if she has it, (in the absence of frank symptoms), that means it is found on only one of her copies of chromosome 9. If so, that means that all of your children have a 50% chance of developing familial dysautonomia.
Acrokeratosis verruciformis is very rare and is not correlated with people from any given ethnic background. You could get tested for mutations in the ATP2A2 gene if you want to.
I appreciate that there are many hard concepts in genetics and molecular cell biology here. If you and your wife are not very familiar with these hard concepts then it might be an idea if you saw a professionally-trained genetic counsellor.
S/he should be able to talk you both through the implications of your genetics in ways that you can both understand.
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Thanks kiwi for thinking about the data i provided.
I do not have familial dysautonmia, just to be clear. just the mutation in the gene. My wife doesnt have this mutation, so we should be safe.
The acrokeratosis verruciformis diagnosis is mine and not the doctor's, yet. This is my assumption due to the fact i see those papules on my father's and sister's dorsals also. I should see a dermatologist with genetic diseases interest by the end of the month.