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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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
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