Hi Adina,

Ok, this is the second time I have tried to post.  I don’t know what I hit but obviously the computer and I haven’t been getting along!

Anyway, the Exon 4(I172N), which Jackson has, is associated with SV not SW. Jackson also has the SW mutation Intron 2 (A/C to G) but since the "rule" is that the least severe presents then Jackson would be a SV by genotype. It gets messy though because there are modifier genes that can affect this change and any other gene for that matter. I think this may have something to do with the phenotype and genotype not matching. 

So as far as your genotype if you have an Exon 4(SV) and and Exon 7 (nonclassic) then the rule would be that you would be genotypically a Non Classic. This might be why you have not had any problems with your kind of CAH. 

Your kids and your hubbys mutations are really interesting. I would have to guess that since your kids have a Intron 2 (SW) and and Exon 4(SV) on one allele the SV would dominate. But since they have the Exon 7 (nonclassical) on the other allele, then wouldn’t that mean that the Non Classical one would dominate? Which in their case would mean that phenotype and genotype don’t match. Weren’t they diagnosed as SW?

 I did  talk to Dr. Lee but I was so shocked that he called me back (I was expecting an email), that I felt flustered and forgot half of my questions for him. I’ll try emailing him again with questions. He did say that he wouldn’t bet his reputation or money on the thinking that two kids with the  exact mutations would present the same way.  Again, the modifier genes have lots to do with this.

So, your hubby, I am guessing, does not present with any symptoms because both of his mutations are on one allele, right? I have never heard of two mutations on one allele but then again, I was never really looking!

I’ll put this in again...hopefully my post will make it this time but my hubby was reading what I was posting last night and he laughed and said to me, while walking away, "you aren’t a geneticist but you play one on the MB." HA HA!!! I thought to myself, here we are some moms trying to decipher the genetic meaning behind CAH. There is something I never thought I would be doing!

Sandra

P.S. Sorry if my other posts miraculously appear!