A Mutated Gene Has Been Found!

Good news, bad news?  I'm not quite sure.  There are still many unanswered questions, but at least we finally have a definite step to follow and research.  OK, bear with me, this is a little difficult to explain (this goes way beyond what I ever learned in Biology!), but I will do the best that I can.  When we saw Dr. Narayanan  last Wednesday afternoon I got some very interesting information.  As of that morning, only 4 of the 5 gene tests for AGS had come back...all of which were negative.  So before we got up there, Dr. Narayanan got a hold of the person who was doing the gene testing and asked if he had the final results.  He said that he did, but they were a little confusing.  What he found was one mutation on the least common of all the AGS causing gene symbols (SAMHD1).

Now, the strange part about that is that AGS is an autosomal recessive disorder, meaning that in order for a person to develop the disorder he/she must receive a mutated gene from each parent.  Two total.  In Anna's case, only one was found which normally would be a sign that she is a carrier.  However, if she was just a carrier, she would not have any of the symptoms...which obviously is not the case.  So, where is the other mutated gene?  Well, Dr. Narayanan explained that one of two things could be going on here.  1)  She is just a carrier of this particular disorder and what she and Bryce actually have is still something totally different than what we have found, or 2) There is a deletion of a gene.  Now, as far as I understand it, this means that there is a gene (or exome, maybe?) that is completely missing.  The trouble is that these deletions do not show up in genetic sequencing and there is currently no clinical test to determine if there is a deleted gene.  Dr. Narayanan said that this may be his next move...to find a way to determine if there is a deleted gene and what it is.

So, where do we go from here.  Well, we signed some forms and sent them to the gene sequencing person (sorry, I don't know what he is called) and Dr. N sent off the blood he has stored for Bryce, John, and I.  They will first test Bryce to see if he has this same gene mutation.  If not, we will figure that Annalise is a carrier of AGS and we will continue on our search. They will also test John and I to see which of us is the carrier.  If Bryce does have the mutated gene, they will test John and I to see where that particular gene is coming from, and go from there.  Hopefully we will have the results in 3-4 weeks. Until that time, I will try to keep from going crazy with the what-ifs of it all.  My brain has been spinning since Wed.  Luckily we keep very busy these days so time should go quickly.  Then we can deal with whatever is found.  I will definitely keep you posted!