Genetic Information

I am so excited to say that I've found some genes that were deleted to have been the cause of other diagnoses for Grace!

So, Grace has 7q36 gene deletion, which means 25 genes were deleted from her genetic makeup. Two of which, so far, I've found out were specific to her other symptoms. The gene SHH (sonic hedgehog) deletion caused her Microcephaly, and the deletion of her EN2 gene caused her cerebellar vermis hypoplasia!!

Ok so this is super scientific but whatever. I'll try to make it as English as possible! So, her cerebellar tonsils and inferior vermis are hypo-plastic, which means didn't grow enough, and because of this, it causes loss of fine motor control, which is what she has. Along with this, it also controls eye movements (which have been affected), body and limb movement (which has been affected), and also is associated with planning, initiation, and timing of movements (which has been affected)! This is so interesting, right?! Ok, something else I just read...the stunted growth of the cerebellar vermis is inherited through an autosomal recessive pattern, which means the gene HAD to come from both of us since it's recessive (which means it's not dominant), and it has a mutation on the X chromosome. Grace had a 25% chance of getting this stunted growth of the cerebellar vermis since we both passed on the gene.

Next are some specific genes and what they do, well, would have done had she had them.  XRCC2- Essential for repair of DNA double strand breaks.  Also, a subtle variation in DNA repair capacity (the ability to repair) may influence cancer susceptibility.  DPPX6- influence in nervous system development.  Also encodes putative component of transient current in heart.  Encodes components to make sure the heart fires correctly.  PAXIP1- link to expression of Alzheimer disease.  HLXB9- Involved in regulation gene transcription (genetic information copied from DNA - RNA resulting in specific protein formation) in lymphoid and pancreatic tissue.  Involved with mutation of sacrum!  HTR5A-expressed in nervous system.  INSIG1-Expression high in liver and plays a role in regulation of cholesterol biosynthesis, where, in the liver, the cholesterol is converted into bile.  EN2- controls cerebellar development and could cause more susceptibility to autism.  NOM1- function in protein translation (the production of a certain amino acid).  DNAJB6- Stimulates ATP hydrolysis (derives energy from food/sunlight and muscle contractions).  Your metabolism basically.

So, there you have it.  Shew...that is a lot!

Interesting stuff, huh?

 

Amanda