4 research outputs found
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
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 (ÎSAS) have been described in the literature. We describe 17 additional individuals with ÎSAS, review the phenotype of 33 previously published individuals with 2q33.1 deletions (n = 50, mean age = 8.5â±â7.8âyears), and provide a comprehensive comparison to individuals with other molecular mechanisms that result in SAS (non-ÎSAS). Individuals in the ÎSAS group were often underweight for age (20/41 = 49%) with a progressive decline in weight (95% CI = â2.3 to â1.1, pâ<â0.0001) and height (95% CI = â2.3 to â1.0, pâ<â0.0001) Z-score means from birth to last available measurement. ÎSAS individuals were often noted to have a broad spectrum of facial dysmorphism. A composite image of ÎSAS individuals generated by automated image analysis was distinct as compared to matched controls and non-ÎSAS individuals. We also present additional genotypeâphenotype correlations for individuals in the ÎSAS 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 ÎSAS variants