SATB2-associated syndrome

Title

Other Names:

SATB2 syndrome; SAS; 2q32q33 microdeletion syndromes; SATB2 syndrome; SAS; 2q32q33 microdeletion syndromes; Monosomy 2q32-q33; Del(2)(q32q33); Del(2)(q32); 2q32-q33 microdeletion syndrome; Glass syndrome See More

Summary Summary

The SATB2-associated syndrome (SAS) is a recently described condition, characterized by developmental delay, intellectual disability with absent or limited language skills, palatal and dental abnormalities, behavioral problems, and unusual facial features. The main symptoms can be remembered using the acronym S.A.T.B.2 (S, Severe speech anomalies; A, Abnormalities of the palate; T, Teeth anomalies; B, Behavioral issues with or without Bone or Brain anomalies, and age of onset before 2 years of age). Other features may include osteopenia and Rett-like problems.^[1]^[2]^[3] The SATB2 gene is located in chromosome 2q32 (the region designated as q32 on the long ("q") arm of chromosome 2), and many of the features are similar to the "2q33.1 microdeletion syndrome". This gene is important for the development of the face, brain and bone. Alterations to the SATB2 gene can result from different mechanisms, such as contiguous deletions (missing pieces of the chromosome 2 that include the SATB2 gene and other genes that are close together), duplications (extra pieces of genetic material) translocations (rearrangements involving the gene), or point mutations (a mutation that only affects a single nucleotide of the DNA).^[1] Treatment depends on the symptoms, and may involve behavioral and physical therapy, surgery for cleft palate repair and orthodontic treatment.^[1]

The organization UNIQUE has published information about SATB2-associated syndrome.

Last updated: 1/24/2017

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/
satb2gene.com
E-mail: http://satb2gene.com/contact-us/
Website: http://satb2gene.com/
The SATB2 Gene Foundation, Inc.
3050 Five Forks Trickum Road
Suite D-524
Lilburn, GA 30047
E-mail: allison@satb2gene.org
Website: https://www.satb2gene.org/
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: https://www.rarechromo.org/

Social Networking Websites

Visit the following Facebook groups related to SATB2-associated syndrome:
SATB2 Syndrome (2q33.1) and Glass Syndrome

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on SATB2-associated syndrome. This website is maintained by the National Library of Medicine.
The SATB2 Gene Foundation, Inc. provides information sheets for patients and families, as well as for medical professionals.
Unique – Rare Chromosome Disorder Support Group is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about SATB2-associated syndrome.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
PubMed is a searchable database of medical literature and lists journal articles that discuss SATB2-associated syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Docker D, Schubach M, Menzel M, Munz M, Spaich C, Biskup S, Bartholdi D. Further delineation of the SATB2 phenotype. Eur J Hum Genet. 2014 Aug; 22(8):1034-9.

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References References

Zarate YA & Fish JL. SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. Am J Med Genet A. February, 2017.; 173(2):327-337. https://www.ncbi.nlm.nih.gov/pubmed/27774744.
Lee JS, Yoo Y, Lim BC, Kim KJ, Choi M & Chae JH. SATB2-associated syndrome presenting with Rett-like phenotypes. Clin Genet. June 2016; 89(6):728-32. https://www.ncbi.nlm.nih.gov/pubmed/26596517.
Zarate YA & cols. Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. Am J Med Genet A. May, 2015; 167A(5):1026-32. https://www.ncbi.nlm.nih.gov/pubmed/25885067.

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