Hi Kaye,

 

We had the DNA testing done, as well, and all that genetic mumbo-jumbo is really not quite as confusing as it seems. You really just need to know a couple of basic things:

 

Basically:  CAH is something that occurs as a result of a defect in our genes.  Mutations and deletions are examples of different types of defects.  A mutation is when something changes into a different form; and a deletion, is when something is missing altogether.  The DNA lab at Cornell commonly tests for 9 different defects associated with CAH (8 mutations and 1 large deletion) that, apparently, account for 95% of all cases of CAH.  These defects occur on markers (correct term.?) on the gene called exons and introns.   

 

By studying large numbers of patients, researchers have been able to identify what form of CAH is associated with each of these 9 different defects.   I don't know all of them, but for example, the following types of CAH are associated with the following defects:

 

Exon 1:  non-classical (but some who have this defect can also present as simple virilizing)

Exon 7: non-classical (this is the mutation that is found with high frequency in Ashkenazi Jews)

Exon 8: severe salt-wasting

 

By knowing exactly which one of the mutations you carry, and the form of CAH associated with that particular mutation, confirmation of a diagnosis of salt-wasting, simple virilizing, or non-classical CAH can be made.  With CAH, the "better" gene dominates.  Since your daughter is a salt-waster, it means that the "best" gene, that both you and your husband passed along to her, would also be a salt-wasting gene. 

 

You can check this out, by looking at the sheet of results that you got back from Cornell.  If it's the same as what we have, it's essentially a bunch of information organized into different columns, right?  Basically, it tells whether each of the patients tested carried a normal or abnormal gene for each of the 9 mutations tested.  If you notice, there are always two different notations on each line, for e.g. "MUT/nor"; "nor/nor"; "nor/MUT."  That is because for every characteristic, a patient carries two genes---one inherited from the mother, and one from the father.  So if, for e.g., you see "MUT/nor" next to the Exon 1 notation in your column, it would mean that one of your parents passed on a mutated Exon 1 defect to you, while the other one passed on a normal gene, at that same location. 

 

As Lynn said, Ann Carlson, the geneticist at Cornell, is very nice and very helpful, and should be able to answer any questions that you have.  It probably doesn't hurt to put this all into context, before you get her on the phone, though, as she can sometimes speak very rapidly and very technically about this stuff. Any other gaps, I'm sure Dr. R. would also be able to fill in.  I've never actually discussed our DNA findings with him, but he is so good at explaining everything else, that I'm sure this will be no different. 

 

That's really about all there is to it......it's all crystal clear now, right??? (LOL!!)  Hope all is well!