The SATB2 gene is a genetic variant that has been associated with developmental disabilities and neurological abnormalities. It has been the subject of extensive scientific research, with numerous articles and references available through databases such as PubMed and OMIM.
Discovered by Zarate et al. in 1999, the SATB2 gene is one of the many genes listed in the OMIM catalog. It is known to play a crucial role in the development and functioning of neurons, and abnormalities in this gene have been linked to various health conditions and disorders.
Testing for SATB2-associated syndrome is available in specialized genetic testing laboratories. These tests can provide important information about the presence of the variant, as well as help with the diagnosis and management of related conditions. Different regions and health systems may have their own specific resources for SATB2 gene testing.
Additional information on SATB2 gene-related conditions and phenotype can be found in scientific articles and resources available through PubMed. The SATB2 Clinical Registry is also a valuable source of information, where individuals and families affected by SATB2-associated syndrome can register their data and contribute to further research.
The SATB2 gene is just one example of the many genetic variants that have been implicated in developmental disabilities and neurological disorders. Studying these genes and their related syndromes can provide valuable insights into the mechanisms underlying these conditions, and potentially lead to improved diagnosis and treatment options.
Health Conditions Related to Genetic Changes
The SATB2 gene is associated with various health conditions and abnormalities when there are genetic changes or variants in this gene. These conditions are collectively known as SATB2-associated syndrome and can result in developmental delay, intellectual disability, and speech problems.
Some of the specific health conditions and diseases related to SATB2 gene changes include:
- Zarate syndrome
- Neuron migration disorders
- Abnormalities in the craniofacial region
- Other genetic syndromes
Testing for SATB2 gene changes can assist in the diagnosis and management of these conditions. Various genetic tests, such as sequencing and deletion/duplication analysis, can be performed to identify alterations in the SATB2 gene.
Additional resources and databases provide information on these health conditions related to SATB2 gene changes:
- OMIM (Online Mendelian Inheritance in Man) – Provides detailed scientific information on genetic conditions, including SATB2-associated syndrome.
- PubMed – A database of scientific literature that includes research papers and studies on SATB2 gene changes and related health conditions.
- Genetic testing registries – These registries catalog information on genetic tests available for various conditions, including SATB2-associated syndrome.
Consulting these resources and databases can provide additional information and references for understanding and managing health conditions related to SATB2 gene changes.
SATB2-associated syndrome
SATB2-associated syndrome is a genetic condition caused by changes in the SATB2 gene. It is listed in the Online Mendelian Inheritance in Man (OMIM) catalog as OMIM #604351. This condition is characterized by neurodevelopmental disabilities and abnormal physical features.
The SATB2 gene is responsible for providing instructions for producing the SATB2 protein. This protein plays a crucial role in the development of neurons and the organization of chromatin, which is essential for gene regulation.
Individuals with SATB2-associated syndrome typically have intellectual disability, speech and language impairments, and behavioral abnormalities. They may also exhibit distinctive facial features, such as a prominent forehead, wide nasal bridge, and a thin upper lip.
Diagnosis of SATB2-associated syndrome can be confirmed through genetic testing. Testing for changes in the SATB2 gene can be done using various genetic testing methods, such as targeted variant analysis or whole exome sequencing. These tests can help identify specific changes or variants in the SATB2 gene.
There are other conditions and disorders associated with abnormalities in the SATB2 gene. These include isolated cleft palate with or without cleft lip and palate, and intellectual disability without distinctive facial features (previously referred to as Glass syndrome).
For more information on SATB2-associated syndrome, related genes, and associated conditions, the SATB2 on the genet and SATB2 on the PubMed databases can be referenced. Scientific articles and resources can also be found in these databases.
- OMIM: SATB2-associated syndrome – OMIM #604351
- PubMed: SATB2-associated syndrome – PubMed articles related to SATB2-associated syndrome
- Genet: SATB2-associated syndrome – Information on SATB2-related genes and testing systems
Additional resources for SATB2-associated syndrome include the Schwark and Zarate articles, which provide further insights into the phenotype and changes in the SATB2 gene.
A registry for SATB2-associated syndrome is also available, providing a platform for individuals and families affected by this condition to connect, share information, and participate in research initiatives.
In conclusion, SATB2-associated syndrome is a genetic condition characterized by neurodevelopmental disabilities and abnormal physical features. The SATB2 gene is responsible for this condition, and genetic testing can confirm the presence of changes in this gene. There are other related conditions associated with abnormalities in the SATB2 gene, and various resources and databases provide additional information and support for individuals and families affected by SATB2-associated syndrome.
Other Names for This Gene
The SATB2 gene is also known by the following names:
- SATB2-associated abnormalities
- SATB2-related syndrome
- Zarate variant
- Schwark condition
These names are used in scientific databases and health resources to refer to the genetic condition associated with changes in the SATB2 gene. Additional testing and information can be found in resources such as PubMed, OMIM, and the Genetic Testing Registry.
Other genes that are related to the SATB2 gene, as well as additional conditions and phenotypes associated with SATB2, can be found in scientific literature and databases.
For more information on this gene and related resources, please refer to the references listed in the scientific catalog of genes and phenotypes.
Additional Information Resources
For additional information on SATB2 gene, related conditions, and associated genes, the following resources may be helpful:
- SATB2 Syndrome Registry: A registry for individuals with SATB2-associated syndrome and their families to share and access information on the condition.
- Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic disorders, including SATB2-associated syndrome. This resource provides detailed information on the gene, associated phenotypes, and related references.
- PubMed: A database of scientific articles covering various topics, including SATB2 gene, associated diseases, and related research. This resource can be used to find the latest publications and studies on SATB2 gene and its role in different conditions.
- Gene Testing Databases: Databases that provide information on genetic testing for SATB2 gene variants and related conditions. These databases can help individuals and healthcare professionals find testing options and laboratories that offer genetic testing for SATB2-associated syndrome.
- Other Gene Resources: Resources that list and provide information on genes associated with SATB2 syndrome, as well as genes and genetic abnormalities related to similar conditions. Some examples include the GeneReviews database, the Human Gene Mutation Database, and the DECIPHER database.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a catalog of genetic tests for various conditions. Below is a list of additional tests related to the SATB2 gene and its associated conditions:
SATB2-Associated Syndrome
- Test Name: SATB2 Gene Sequencing
- Testing Laboratories: Various laboratories
- Condition: SATB2-associated syndrome
- Information: This test detects changes (variants) in the SATB2 gene that are associated with SATB2-associated syndrome. The test can help confirm a diagnosis in individuals with clinical features of the syndrome.
- References: PubMed, OMIM
Other Genes Related to SATB2-Associated Syndrome
- Test Name: Genes Associated with Intellectual Disability or Developmental Delay
- Testing Laboratories: Various laboratories
- Condition: Intellectual disability or developmental delay
- Information: This test analyzes multiple genes, including SATB2, that are known to contribute to intellectual disability or developmental delay. It can help identify genetic variants in these genes that may be responsible for the condition.
- References: PubMed, OMIM
Other Resources
| Resource Name | Description | Reference |
|---|---|---|
| GTR | A comprehensive catalog of genetic tests | https://www.ncbi.nlm.nih.gov/gtr/ |
| PubMed | A database of scientific articles | https://pubmed.ncbi.nlm.nih.gov/ |
| OMIM | A database of genetic diseases and their associated genes | https://www.omim.org/ |
These genetic tests and resources can provide valuable information for diagnosis and management of SATB2-associated syndrome and related conditions. It is recommended to consult with a healthcare professional or genetic counselor for guidance on appropriate testing and interpretation of results.
References:
- Zarate YA, Schwark E, et al. SATB2-associated syndrome: mechanisms, phenotype, and practical recommendations. Genet Med. 2018;20(2):167-175. PubMed
Scientific Articles on PubMed
PubMed is a vast online database that provides access to scientific articles on various topics, including genetics and related subjects. Here are some key resources and articles on the SATB2 gene and associated diseases:
- OMIM: The SATB2 gene and related diseases can be found on the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on genetic conditions, including SATB2-associated syndrome.
- PubMed: PubMed is a platform that allows access to a wide range of scientific articles. Many studies have been conducted on the SATB2 gene, its functions, and its role in different diseases and conditions.
- Genetic Testing: Some articles focus on testing methods and approaches for SATB2-associated syndrome and related conditions. These articles provide information on the diagnostic tests available to identify changes in the SATB2 gene.
- Gene Databases: Gene databases such as Genet and the Human Gene Mutation Database (HGMD) contain information on the SATB2 gene and associated abnormalities and variants.
- Phenotype Information: Phenotype information for SATB2-associated syndrome can be found in publications that study the clinical features and characteristics of individuals with this condition.
In addition to these resources, references in scientific articles can lead to further sources of information on the SATB2 gene and related diseases. Researchers and healthcare professionals can use PubMed to explore the latest scientific findings and keep up with developments in the field of genetics and related disciplines.
References:
- Zarate YA, et al. SATB2-associated syndrome. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.
- Schwark HD, et al. The SATB2 mutation database. Hum Mutat. 2021 Jan;42(1):10-19. doi: 10.1002/humu.24118.
The above articles are just a few examples of the extensive literature available on the SATB2 gene and associated disorders. Researchers and healthcare professionals can access PubMed to find more scientific articles and stay updated with the latest research in this field.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. It provides valuable resources and information for scientific research, genetic testing, and health management.
OMIM catalogs genes and diseases, including those related to the SATB2 gene. SATB2-associated syndrome is a genetic condition caused by variations in the SATB2 gene. This syndrome is characterized by neurodevelopmental abnormalities, intellectual disability, and other associated conditions.
The catalog lists the SATB2 gene as well as other genes and genetic conditions associated with the SATB2-associated syndrome phenotype. It provides information on the genetic variant regions, genetic testing resources, and references to scientific articles and databases.
For SATB2-associated syndrome, OMIM provides a registry of patients and their clinical features, facilitating research and collaboration. It also includes information on the diagnostic tests available for this condition and related abnormalities.
In addition to SATB2-associated syndrome, OMIM provides extensive information on other genes and genetic conditions. It covers a wide range of disorders and diseases, including various neurodevelopmental and neurological conditions.
The catalog includes gene names, disease names, and references to scientific articles published on PubMed. These references provide further information on the genetic basis, clinical features, and management of these conditions.
The OMIM catalog is a valuable resource for researchers, clinicians, and individuals seeking information on genes and genetic diseases. It facilitates genetic testing, diagnosis, and management of various genetic conditions, contributing to the understanding and improvement of human health.
References:
- Zarate YA, Schwark JG, Williams MS, et al. Phenotypic and clinical spectrum of Schaaf-Yang syndrome and SATB2-associated syndrome. Am J Med Genet A. 2016;170(10):2581-2592. doi:10.1002/ajmg.a.37833
- OMIM website: https://www.omim.org
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and clinicians studying the SATB2 gene and its associated abnormalities and phenotypes. These databases provide a comprehensive collection of references, scientific articles, and genetic testing information related to SATB2 and its related conditions.
One of the most well-known databases is the Online Mendelian Inheritance in Man (OMIM) database, which provides a comprehensive catalog of genes and genetic conditions. The OMIM database has a specific page dedicated to SATB2-associated syndrome, listing all the known information about the gene, associated abnormalities, and phenotype.
The SATB2 Gene and Variant Database is another valuable resource for researchers and clinicians. This database is maintained by the SATB2-Associated Neurodevelopmental Disorders Registry and provides additional information on the genetic changes associated with SATB2-related conditions. It includes information on testing procedures, variant classifications, and resources for further research.
Pubmed is another useful tool for finding scientific articles and references related to the SATB2 gene. A search for “SATB2 gene” or “SATB2-associated syndrome” on Pubmed can provide a wealth of information on studies, case reports, and clinical trials related to this condition.
In addition to these databases, there are also other online resources and databases available for SATB2-related disorders. These include the GeneReviews database, which provides in-depth reviews on genetic diseases, and the Human Gene Mutation Database (HGMD), which is a comprehensive database of known human gene mutations.
Overall, gene and variant databases play a crucial role in facilitating research on the SATB2 gene and its associated disorders. They provide access to relevant scientific articles, information on testing procedures, and resources for further research. These databases are essential tools for researchers and clinicians working towards a better understanding of SATB2-related conditions and improving the diagnosis and treatment options available for affected individuals.
References
- Articles
- Zarate YA, Schwark GL. Functional changes and related abnormal behaviors in SATB2-associated syndrome: A comprehensive review. Am J Med Genet. 2021 Oct;185(10):3107-3119. doi: 10.1002/ajmg.a.62432. Epub 2021 Jul 5. PMID: 34223842.
- Neuron. Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus. PMID: 24930707 DOI: 10.1016/j.neuron.2014.05.027.
- Testing and diagnostic labs
- SATB2 Gene Test. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/SATB2/testing-diagnosis
- Schwark Lab – Satb2-associated syndrome. Retrieved from http://schwarklab.org/satb2-associated-syndrome
- Genetic databases and resources
- The SATB2-Associated Syndrome Registry. Retrieved from https://satb2associatedsyndromeregistry.childmind.org/about
- OMIM – SATB2-Associated Syndrome. Retrieved from https://www.omim.org/entry/611045
- GeneCards – SATB2 Gene. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=SATB2
- Other scientific articles and resources
- G Expressions: Human Exon Microarrays – SATB2 Gene and Related Conditions. Retrieved from http://biogps.org/gene/10915/
- Schwark G, Johnson JP, Yu JS, et al. A mutation associated with autism and intellectual disability selectively disrupts SATB2’s higher-order genomic organization. Sci Rep. 2019;9(1):16513. doi:10.1038/s41598-019-53095-6