"Rett Syndrome: Negative. No mutations detected in the MECP2 gene."
While I'll admit I did a 5 second happy dance, unfortunately, this is not as straightforward as it seems. (A) While MECP2 mutations count for something like 95% of all Rett syndrome cases, there are two additional genes it could be. (B) The fact that Bertrand is MALE and ALIVE and NORMAL 46XY means that if he did have Rett, he has a form of somatic mosaicism: part of his body has the mutated gene while the other part of his body does not. His blood, the part of his body on which the gene was tested, could simply be part of the portion of his body with the unmutated MECP2 gene.
Still the dance was worth because at least it is not this gene! And maybe none of the other two!
ReplyDeleteLove,
Titi Lili
I'm telling you - Hannah and B are separated at birth. Hannah's initial gene test result came back with her as a carrier for GD (because of unique mutation didn't match the 98% of mutations of GD that it does test for).
ReplyDeleteIs there a way to test for unique mutations of RS?