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SAS REVIEW AND RECOMMENDATIONS

Zarate YA, Fish JL. SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. 2017; Am J Med Genet A. PMID:27774744.

ICD10 CODE: SAS will be indexed to Q87.89 “Other specified congenital malformation syndromes, not elsewhere classified”, effective October 1, 2019.

Dr. Zarate speaking at the 2nd international SAS family meeting, 2018.

provider letters
patient resources

FOR SATB2 INFORMATION SHEET IN OTHER LANGUAGES, ADDITIONAL RESOURCES, AND PARENT SUPPORT GROUP INFORMATION PLEASE VISIT:

www.satb2gene.org
sas articles

Report of 5 patients with SAS and mutations in SATB2ZARATE et al

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

Clinical and molecular findings in 20 individuals with SASBENGANI et al.

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.

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An overview of the expected medical, behavioral, and developmental issues in 72 individuals with SASZARATE et al.

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.

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Skeletal manifestations of 7 individuals with SAS ZARATE et al

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.

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Dental radiographic findings in SAS SCOTT et al.

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. 2947-2951

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Comprehensive review of 155 families with SASZARATE et al.

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.

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