SATB2 International Clinic

SATB2-associated syndrome (SAS) is a genetic disorder characterized by:

• Developmental delay/intellectual disability with absent or limited speech development
• Behavioral problems
• 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 been 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".

Yuri Zarate, M.D., is a clinical geneticist at Arkansas Children’s Hospital and 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.

Currently, more than 150 families are enrolled in the study. Parents and clinicians are encouraged to contact Dr. Zarate for further questions and to consider enrollment in his study.

For more information about SATB2, including FAQs, visit the satb2gene.org website. >

Yuri Zarate, M.D.,MBA
Associate Professor, Section of Genetics and Metabolism
University of Arkansas for Medical Sciences
Arkansas Children’s Hospital
1 Children’s Way Slot 512-22
Little Rock, AR 72202
Phone: 501-364-1926
Fax: 501-364-1564

Katie Bosanko, MS, CGC
Genetic Counselor
Arkansas Children's Hospital
1 Children's Way Slot 512-22
Little Rock, AR 72202
Phone: 501-364-4057
Fax: 501-364-1564
Email: kbbosanko@uams.edu