SATB2 Study in English

I was so, so, SO excited to see that there is a new SATB2 study, authored by the geneticist that is involved with creating our SATB2 database!!! Here is the link.

And jargon-speak can sometimes be difficult to understand, so here are 7 points made in the study... in plain English:

1. I LOVED the acronym they came up with for SATB2, all about the main characteristics of our cuties!

2. "Glass Syndrome" and "SATB2 Associated Syndrome" are the same thing. Really, no difference. All the kids will present with similar symptoms regardless of size of deletion/ mutation/ duplication/ frameshift

3. They give a recommendation for treatment for SATB2!!!! (See Table II on Page 8) Super easy to read!

4. SATB2 Syndrome will usually present with: intellectual disability (NOBODY say the "R" word), absent or limited speech, palate and dental problems, overall developmental delay, behavior issues, and possible seizures and osteopenia.

All these things, from one tiny change!!!

5. They made mice with SATB2 Syndrome, and the mice that lived (many died) had similar symptoms as the humans with the same syndrome

6. SATB2 has some effect in brain development (not yet fully researched), which indicates defects in the corpus callosum.

The corpus callosum "connects" things in the brain, from one hemisphere to the other

7. It has been suggested that the SATB2 gene acts as a tumor suppressant (because elevated levels of the SATB2 protein have been seen in tumors, the guess is that the body sends it in to fight cancer), but since no cases of an SATB2-affected person with cancer have been recorded, this remains an unanswered question about the affect of abnormalities on the SATB2 gene in relation to cancer.