Hi Hope Suzanne,
Is it possible that you have your mutations around the wrong way? Intron 2 is a classical mutation (severe - SW/SV) and Exon 7 is usually the V281L mutation which is a non-classical mutation (mild).
Also if both parents are carriers of only one CAH mutation each, then the risk of each of their children actually having LO/CAH is 25%. Fifty percent chance each child will be a carrier and 25% will not carry any CAH mutation.
HOWEVER if one parent already has LO/CAH (ie. 2 mutations) and the other parent carries one mutation, then the risk increases to 50% chance for each of their children inheriting the condition and 50% will be carriers....
...and of course if BOTH parents have LO/CAH (2 mutations each) then all the pregnancies of that union will have LO/CAH = 100%
