CORE FEATURES OF SATB2-ASSOCIATED SYNDROME (SAS) CAN BE REMEMBER BY THE FOLLOWING ACRONYM USING THE NAME OF THE SATB2 GENE.
S: Severe speech anomalies
A: Abnormalities of the palate
T: Teeth anomalies
B: Behavioral issues with or without Bone or Brain MRI anomalies
2: Age of onset before 2 years of ageDownload Quick Facts Infographic Download SAS Info for providers
The severity of speech delay by age as determined by the current number of spoken words for 129 individuals with SAS (Modified from Zarate et al.1)
Composite facial features as generated by facial recognition technology (FDNA vs.17.6.1 ) from 55 children age 13 years and younger with intragenic pathogenic variant.6
References: 1. Zarate YA, et al. Hum Mutat. 2019; PMID: 31021519; 2. Unpublished data; 3. Scott et al. Clin Oral Investig. 2018; PMID: 30315422. 4. Scott et al. Spec Care Dentist. 2019; PMID: 30648748. 5. Zarate YA, et al. Clin Genet. 2018; PMID: 28787087; 6. Zarate YA, et al. Am J Med Genet A. 2018; PMID: 29436146.
Alterations to the SATB2 locus can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations.1,2,3Go to molecular data
SATB2 is a transcription factor involved in chromatin organization. Through the transcription of multiple genes, SATB2 is critical to the development of multiple tissues including the jaw, brain, and skeleton – tissues.
The prevalence of SAS is not known. However, two recent studies have estimated the frequency of SAS in large cohorts of individuals with undiagnosed intellectual disability/developmental delay at 0.24%-0.3%4,5
OVER 200 CASES CONFIRMED WORLDWIDE
References: 1. Zarate YA, et al. Hum Mutat. 2019; PMID: 31021519. 2. Zarate YA, Kaylor J, Fish J. GeneReviews. 2017; PMID: 29023086. 3. Zarate YA, Fish J. Am J Med Genet A. 2017; PMID: 27774744. 4. Zarate YA, et al. Clin Genet. 2017; PMID: 28139846. 5. Bengani H et al. 2017; PMID:2 8151491