Features and genetics of SATB2-Associated syndrome





Resources for families and caregivers





Information on individual variant interpretation





Comprehensive genotype-phenotype correlations





Information on the SATB2 Registry and multidisciplinary SATB2 clinic












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SATB2-Associated syndrome

History of SATB2 research

  • 1989
  • Glass et al.

    First report of an individual with a chromosome 2 deletion including the SATB2 gene and the origin of the term 'Glass syndrome'

  • 2003
  • FitzPatrick et al.

    SATB2 gene discovery

  • 2017
  • Bengani et al.

    Delineation of the phenotype and functional studies

  • 2018
  • Zarate et al.

    Delineation of the phenotype and natural history of SAS

  • 2019
  • Zarate et al.

    Comprehensive mutation spectrum overview

SATB2-Associated syndrome (Glass syndrome)

SATB2-Associated syndrome (SAS, Glass syndrome) is an autosomal dominant multisystem disorder characterized by significant neurodevelopmental compromise with limited to absent speech, intellectual disability of variable severity, behavioral issues, skeletal anomalies, and craniofacial abnormalities. More details can be found on Genereviews.

Clinical information from the SAS Registry and Literature for individuals with point mutations (310 individuals):


n = 272

n = 227

Sex

Age Distribution


n = 115

n = 196

Age at first word

Age at first step


n = 202

Total words spoken


n = 228

n = 88

Cleft palate

Low bone density


Further Phenotypes

Families



What is SATB2-Associated syndrome?

SATB2-Associated syndrome Webinar Fall 2019





What is SATB2-Associated syndrome

SATB2 -Associated syndrome (SAS) is a rare genetic condition. While knowledge and awareness on SAS continues to improve, most people have not heard of it. The core features of SAS can be remembered by the following acronym using the name of the SATB2 gene:

S: Severe speech anomalies
A: Abnormalities of the palate
T: Teeth anomalies
B: Behavioral issues with or without Bone or Brain MRI anomalies
2: 2 years of age or earlier is usually the age of onset


In these videos you'll get an overview of the main features of SAS. You have the option of a simple and quick version or a more detailed version with more information.

Family Organizations



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Helpful documents with detailed information on important topics


Background Information
Quick facts


Information Sheet for Families
Information Sheet for Providers


Infographic Behavior
Infographic Dental


Infographic Speech
Dental letter for SATB2 Professionals


Speech letter for SATB2 Families and Professionals

Analyse your variants

Enter variant



Selected gene: SATB2

Transcript: ENST00000260926




and






or





Variant Information

Clinical significance according to ClinVar

Patient information

Individuals with the same variant in the SATB2 Portal


Abnl: abnormal; BMD: bone mineral density; CP: cleft palate

Custom variant analysis


Compare the selected variant with other chosen missense variants






Patient information

Individuals with the same variant in the SATB2 Portal


Abnl: abnormal; BMD: bone mineral density; CP: cleft palate

Compare the selected variant to other nonsense variants




Patient information

Individuals with the same variant in the SATB2 Portal


Abnl: abnormal; BMD: bone mineral density; CP: cleft palate

Compare the selected variants neither classified as missense nor nonsese variants




Analyse your variants

Filter Registry

Reset filters
Reset filters

Custom variant exploration



Selected variants are displayed in 2D (lolliplot) and 3D (protein structure)

Reference population missense variants (gnomAD)

The following transcript was used: SATB2 : ENST00000287766
H: Helix
Null: Protein Truncating Variant


UniProt: Q9UPW6
Predicted structure Alpha fold
Display variants

Display variants

How to enter the SATB2 Registry

SATB2 Registry information

This large worldwide registry for SATB2-Associated syndrome (SAS) is led by Dr. Yuri Zarate and Katie Bosanko. After you contact the team, the participation consent is sent and reviewed for questions. Next, a link to the database with SAS-specific questions is sent to the family to complete. The registry team collects medical records from providers and provides a high level of data curation. The registry has provided a great deal of information that is published in the literature as it is analyzed.

Arkansas Children’s Hospital hosts the only dedicated multidisciplinary clinic for the SATB2-Associated syndrome in the United States. This clinic is hosted quarterly and participants can anticipate undergoing a comprehensive evaluation by our experienced SATB2 team. More information at SATB2 International Clinic (archildrens.org).

About

Portal version

This is the alpha version of the SATB2 Portal

The SATB2 Portal is the result of a collaborative effort to disseminate quality relevant data generated during the study of SATB2-Associated syndrome.

The goals of this project are:


  • Summarize clinical and molecular data interactively
  • Provide information on SATB2 -Associated syndrome
  • Support and promote research on SATB2-Associated syndrome
  • Facilitate ongoing recruitment to the SATB2 -Associated syndrome registry

  • Aid in SATB2 variant interpretation and classification
  • Visualizing data from the global SATB2 -Associated syndrome registry
  • Promote collaboration between clinicians and other researchers

Teams and People

The current version of the SATB2 Portal has been developed by an international team of researchers and clinicians:

Team Leaders

Yuri Zarate (Little Rock, US): Clinical & genetic data

Dennis Lal (Cleveland, US): General concept, web development, bioinformatics, video production

Clinical & Genetic Data

Yuri Zarate

Katherine Bosanko

Web Development

Arthur Stefanski

Tobias Brünger

Eduardo Perez-Palma

Marie Macnee

Chiara Klöckner

Bioinformatics

Tobias Brünger

Eduardo Perez-Palma

Marie Mcnee

Patrick May

Chiara Klöckner

Acknowledgements

Jenny-Li Örsell, SATB2 Europe

Imprint

We object to any commercial use and disclosure of data.

Copyright and use: The authors grants you the right of use to make a private copy for personal purposes. However, you are not entitled to change and/or pass on the materials or publish them yourself. Upon request, you will receive free information about the personal data stored about you. To do so, please contact the administrator.

No liability: The contents of this web project have been carefully checked and created to the best of our knowledge. But for the information presented here is no claim to completeness, timeliness, quality and accuracy. No responsibility can be accepted for any damage caused by reliance on or use of the contents of this website.

Terms of Use

All data here are publicly for the benefit of researchers, clinicians, and caregivers. You can freely explore the data, and we encourage the use and publication of results generated from these data. However, we encourage you to contact us before embarking on analyses to check if your proposed analysis overlaps with work currently underway by our team. Further, we request that you actively acknowledge and give attribution to the SATB2 Portal project, and link back to the relevant page, wherever possible. All users of our data agree to not attempt to reidentify participants. Our data set has been subjected to extensive quality control, but maybe imperfect so errors may remain. If you spot mistakes or have suggestions for SATB2 Portal improvements:

Contact us that we can improve.

Data generation information

Information for this portal is obtained by careful review of the literature and extensive family-provided data curation. Standardized data collection forms are filled and aggregated in all instances. While we procure obtaining medical records for all individuals enrolled in the registry, in some instances, we can’t verify all information provided to be accurate. For cases reported in the literature, data is obtained from the original publication as reported by the authors.