Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
Document Type
Article
Date of Original Version
2020
Department
Pharmacy Practice
Abstract
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 (ΔSAS) have been described in the literature. We describe 17 additional individuals with ΔSAS, 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-ΔSAS). Individuals in the ΔSAS 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. ΔSAS individuals were often noted to have a broad spectrum of facial dysmorphism. A composite image of ΔSAS individuals generated by automated image analysis was distinct as compared to matched controls and non-ΔSAS individuals. We also present additional genotype–phenotype correlations for individuals in the ΔSAS 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 ΔSAS variants.
Publication Title, e.g., Journal
Clinical Genetics
Volume
99
Issue
4
Citation/Publisher Attribution
Zarate, Y. A., Bosanko, K. A., Thomas, M. A., Miller, D. T., Cusmano-Ozog, K., Martinez-Monsemy, A.,...Lacro, R. V. (2020). Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clinical Genetics, 99(4), 547-557. https://doi.org/10.1111/cge.13912
Available at: https://doi.org/10.1111/cge.13912
Figure 1
Caffrey_GrowthDevelopment_2020_Fig2.tif (344 kB)
Figure 2
Caffrey_GrowthDevelopment_2020_Fig3.tif (6260 kB)
Figure 3
Caffrey_GrowthDevelopment_2020_Table1.docx (20 kB)
Table 1
Caffrey_GrowthDevelopment_2020_Table2.xlsx (14 kB)
Table 2
Author Manuscript
This is a pre-publication author manuscript of the final, published article.
Terms of Use
This article is made available under the terms and conditions applicable
towards Open Access Policy Articles, as set forth in our Terms of Use.