Hello Tami-

An intron splice 2 mutation means that in intron 2 of the DNA strand that codes for 21-hydroxylase the section of DNA that is supposed to be there has been replaced with a different section section of DNA- usually further down in the DNA coding sequence. Think of the strand of DNA like the alphabet: instead of it going abcdefg.... it goes abclmnop- things are not where they are supposed to be!

There seem to be a lot of intron 2 splice mutations. I have a paper listing lots of intron 2 splice mutations and what the level of saltwasting is with each one. Email me and I can send you the paper, then perhaps you can call the lab and ask them exactly which splicing mutation you have.

I hope this makes sense- let me know if there is anything else I can do to help!

MarthaF