Welcome to satb2gene.com

An Informational Website

Welcome to satb2gene.com, a website dedicated to SATB2-associated syndrome (SAS). Here you will find medical information, stories about children with SAS, and other resources that we hope can offer personal support to assist you, your family, and health workers through this journey. Because SATB2-associated syndrome (SAS) was described just over the last few years, only a limited number of patients have been identified. This syndrome is also known as Glass syndrome.

  • Limited amount of patients have been reported
  • Contact Dr. Zarate for further information

Dr. Zarate has initiated a project to collect clinical information on patients with SAS no matter how the SATB2 gene is changed (deletions, duplications, or mutations) to increase knowledge of this condition. Parents and clinicians are encouraged to contact Dr. Zarate for further questions and to consider enrollment in his study. Currently, over 40 families are enrolled.

News And Announcements

  • Dr. Zarate`s comprehensive review on SAS is now published. To access it please go here (Free)  https://www.ncbi.nlm.nih.gov/pubmed/27774744
  • First international SATB2-associated syndrome conference for children and their families, clinicians, and researchers will take place in Little Rock Arkansas, August 3-5, 2017. More details to follow
Meet those with SAS

Meet Stories

  • Eligh

    Eligh's story

    “My beautiful son Eligh was seven years old when he received his diagnosis –SATB2 Associated Syndrome.

  • Sylvia

    Sylvia's story

    For the parents in this group….Regardless of our children having the same genetic make-up, they all will be their own little person.

  • Javi

    Javi's Story

    “Javier (“Javi”) is a sweet, happy, loving boy. He LOVES cars and trucks, and always has a car or truck in hand.

  • Claire

    Claire's story

    Sweet Claire was born in late 2013. She was the perfect addition to our little family, a sweet baby girl that was desperately wanted..

Background

Background

What is SATB2-associated syndrome (Glass Syndrome)?

SATB2-associated syndrome (SAS) is a genetic disorder characterized by developmental delay/intellectual disability with absent or limited speech development, behavioral problems, and abnormalities of the palate (roof of the mouth) and teeth. Changes in the SATB2 gene cause this syndrome. Common types of gene changes are mutations (misspellings), deletions (pieces missing), or duplications (pieces extra) in the SATB2 gene. SAS has also labeled “Glass syndrome” (OMIM #612313) after Dr. Glass who described a patient with a deletion in chromosome 2 back in 1989. Similarly, other patients with deletions in this area have been labeled “2q33.1 microdeletion syndrome” or “2q32 deletion syndrome”.
Dr. Zarate has initiated a project to collect clinical information on patients with SAS no matter how the SATB2 gene is changed (deletions, duplications, or mutations) to increase knowledge of this condition. Parents and clinicians are encouraged to contact Dr. Zarate for further questions and to consider enrollment in his study.

Dr. Glass (left) with Dr. Zarate (right)

FAQ

Would my child talk more than he/she is now?

While every child is different, in general, speech is severely affected in SATB2-associated syndrome (SAS). So far, there is no good way to predict who might be more or less severely affected than another child with SAS. There are people with SAS that have very limited or absent verbal communication skills at this moment but others have managed to improve their vocabulary over time with extreme dedication.

What other medical issues can be anticipated?

Besides the implications for learning, development, and behavior, other very common issues include teeth problems, feeding difficulties, and abnormalities of the palate (roof of the mouth). There appears to also be an increased risk for bone problems and seizures.

How did this happen and could it happen again?

So far, there has not been a single case of SAS that was inherited from a parent. Indeed, in all cases reported thus far when parents were tested, mutations in the SATB2 gene happened spontaneously in the affected person. This reduces the chances of having another affected child to very low numbers (1% or less but never 0). The only exception might be for those individuals that have a deletion (piece missing) that includes the SATB2 gene. Such deletions (especially large ones) can be the result of a rearrangement of genetic information that one of the parents may have and in those cases, the chances of recurrence can be higher. Looking at the chromosomes in the parents could help in those situations.