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Zarate, Y.A. Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. Am J Med Genet A, 2015. 167A(5): p. 1026-32.

In this manuscript, 20 individuals with SAS are described. From this study, other important findings include: 1. Documentation of a stop-gain mutation in the last exon that as expected escaped nonsense-mediated decay and 2. Functional studies of missense variants within the core of the CUT domain affecting DNA-binding activity by their predicted effect on the helical structure of the domain.

Zarate, Y.A. et al. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A, 2018. 176(4): p. 925-935.

This report describes the skeletal manifestations of 7 individuals with SAS, all documented to have a low bone mineral density (BMD). Other important findings include elevated alkaline phosphatase levels around the time of low BMD documentation and history of fractures and tibial bowing in some. Treatment experience with Pamidronate 2 children are also described.

The dental radiographic findings of 18 individuals with SAS are described. Dental radiographs revealed anomalies in all individuals starting at 2 years of age. The most consistent finding was delayed development of the mandibular second bicuspids (83%) with other common radiographic findings including delayed development of the roots of the permanent teeth (78%), severely rotated (56%) or malformed teeth (44%), and taurodontism (44%).

This comprehensive report includes 155 families with SAS and presents the clinical aspects along with the molecular findings, animal studies, and future prospects.