SATB2-Associated syndrome (SAS) is an autosomal dominant, multisystemic, neurodevelopmental disorder due to alterations in SATB2 at 2q33.1. A limited number of individuals with 2q33.1 contiguous deletions encompassing SATB2 (?SAS) have been described in the literature. We describe 17 additional individuals with ?SAS, review the phenotype of 33 previously published individuals with 2q33.1 deletions (n=50, mean age=8.5±7.8?years), and provide a comprehensive comparison to individuals with other molecular mechanisms that result in SAS (non-?SAS). Individuals in the ?SAS group were often underweight for age (20/41=49%) with a progressive decline in weight (95% CI=-2.3 to -1.1, p<0.0001) and height (95% CI=-2.3 to -1.0, p<0.0001) Z-score means from birth to last available measurement. ?SAS individuals were often noted to a broad spectrum of facial dysmorphism. A composite image of ?SAS individuals generated by automated image analysis was distinct as compared to matched controls and non-?SAS individuals. We also present additional genotype-phenotype correlations for individuals in the ?SAS group such as an increased risk for aortic root/ascending aorta dilation and primary pulmonary hypertension for those individuals with contiguous gene deletions that include COL3A1/COL5A2 and BMPR2, respectively. Based on these findings, we provide additional care recommendations for individuals with ?SAS variants. This article is protected by copyright. All rights reserved.
View details for DOI 10.1111/cge.13912
View details for PubMedID 33381861