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.PUBMED link
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.
Bengani, H. et al. Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genet Med, 2017. 19(8): p. 900-908.PUBMED link
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.PUBMED link
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.
Zarate, Y.A. et al. Bone health and SATB2-associated syndrome. Clin Genet, 2018. 93(3): p. 588-594.PUBMED link
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%).
Scott et al. Dental radiographic findings in 18 individuals with SATB2-associated syndrome. Clin Oral Investig, 2018. 22(8): p. 2947-2951PUBMED link
This comprehensive report includes 155 families with SAS and presents the clinical aspects along with the molecular findings, animal studies, and future prospects.
Zarate, Y.A. et al. Mutation update for the SATB2 gene. Hum Mutat, 2019.PUBMED link