Healthcare Professionals

SATB2-ASSOCIATED SYNDROME (SAS, GLASS SYNDROME) IS AN AUTOSOMAL DOMINANT MULTISYSTEM DISORDER CHARACTERIZED BY SIGNIFICANT NEURODEVELOPMENTAL COMPROMISE WITH LIMITED TO ABSENT SPEECH, BEHAVIORAL ISSUES, AND CRANIOFACIAL ANOMALIES.
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healthcare professionals

SAS Manifestations

All individuals described to date have displayed developmental delay/intellectual disability with severe speech delay.1,2

SAS Molecular Alterations

SAS is caused by alterations of the SATB2 gene located at 2q33.1 that can include single nucleotide variants (loss-of-function as well as missense), intragenic deletions and duplications, contiguous deletions, and translocations with secondary gene disruption.3,4

SAS Surveillance and Management

SAS treatment is symptomatic. Ongoing evaluation of nutritional status, growth, developmental progression, sleep disturbances, behavioral issues, dental problems, and potential bone disease, is recommended.

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Patient Information

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Information to help new families learn about this syndrome.

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Global registry dedicated to SAS.

References: 1. Zarate YA, Kaylor J, Fish J. GeneReviews. 2017; PMID: 29023086. 2. Zarate YA, et al. Am J Med Genet A. 2018; PMID: 29436146. 3. Zarate YA, Fish J. Am J Med Genet A. 2017; PMID: 27774744. 4. Zarate YA, et al. Hum Mutat. 2019; PMID: 31021519