Since 2016, Dr. Yuri Zarate has led a genetic registry focused on studying SATB2-associated syndrome (SAS).
Since enrollment of the first individual with SAS in March of 2016, 149 individuals from over 15 different countries have completed registry data collection as of May of 2019.
Data generated from the SAS registry has greatly increased our knowledge about this condition with several manuscripts produced and more planned (see Clinical Research).1,2,3,4,5 The SAS registry also offers a large compilation of curated molecular data.
WHAT IS INVOLVED
There are a few things that need to be completed to be a part of this study registry. The parents or legal guardians perform these steps as necessary.
To learn more about the process:
SAS Registry & Info sheet pdf
References: 1. Zarate YA, et al. Hum Mutat. 2019; PMID: 31021519; 2. Scott et al. Clin Oral Investig. 2018; PMID: 30315422. 3. Scott et al. Spec Care Dentist. 2019; PMID: 30648748. 4. Zarate YA, et al. Clin Genet. 2018; PMID: 28787087; 5. Zarate YA, et al. Am J Med Genet A. 2018; PMID: 29436146.
Arkansas Children’s Hospital SAS team has evaluated dozens of individuals with this rare condition. Understanding the full spectrum of clinical manifestations and neurobehavioral implications of SAS is paramount to develop best care guidelines and anticipate potential complications.
Ongoing and upcoming clinical research efforts by the Arkansas Children’s Hospital SAS team through ongoing evaluation of individuals affected with SAS and evaluations and SAS registry data, include the following:
References: 1. Zarate YA, et al. Hum Mutat. 2019; PMID: 31021519; 2. Scott et al. Clin Oral Investig. 2018; PMID: 30315422. 3. Scott et al. Spec Care Dentist. 2019; PMID: 30648748. 4. Zarate YA, et al. Clin Genet. 2018; PMID: 28787087; 5. Zarate YA, et al. Am J Med Genet A. 2018; PMID: 29436146.
Arkansas Children’s Hospital SAS team and in collaboration with Dr. Jennifer Fish, Assistant Professor at the University of Massachusetts Lowell, is working on several fronts at the Basic and Translational science side to enhance our understanding of SAS. The long term goal of our combined work is to find interventions that are specific for this condition.
Ongoing and upcoming Basic and Translational Research efforts include the following:
Venn plot analysis of genes expressed in blood from 5 different individuals with SAS with truncating pathogenic variants
Biolog kinetic curves from individuals with SAS.
Images of Satb2-mutant pre-osteoblasts showing potential disease phenotypes. Left: Two cells that have divided retain a chromatin bridge (DNA shown in blue). Middle: A large cell with an abnormal, “donut-like” nucleus and nuclear blebs. Right: DNA is shown in pink, tubulin is shown in green. This mutant cell has an abnormally shaped nucleus with nuclear blebbing.
Human fibroblasts derived from skin biopsy from an individual with SAS. Nuclei are stained with Dapi (blue). The fibroblast marker (HSP47, also known as SERPINH1) is shown in red.