SATB2-associated syndrome

SATB2-associated syndrome is a rare genetic condition that is caused by mutations in the SATB2 gene. The syndrome is associated with a range of physical and developmental disabilities.

The SATB2 gene is located on chromosome 2q32-q33 and is involved in the development of various organs and tissues, including the craniofacial region. Mutations in this gene can lead to delayed development, intellectual disability, and characteristic facial features.

The syndrome was first described by Britanova et al. in 2005, and since then, more cases have been reported in the medical literature. The condition is named after the SATB2 gene, which stands for “special AT-rich sequence-binding protein 2.”

Patients with SATB2-associated syndrome often have speech and language difficulties, as well as problems with feeding and swallowing. They may also have behavioral issues, including hyperactivity and autism spectrum disorder.

SATB2-associated syndrome is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to their children. Genetic testing, such as chromosomal microarray analysis or targeted gene sequencing, can be used to confirm a diagnosis.

There is currently no cure for SATB2-associated syndrome, but there are ways to manage the symptoms and provide support to affected individuals and their families. Early intervention, including speech and occupational therapy, can help improve communication and development.

For more information about SATB2-associated syndrome, genetic testing, and support for families, please visit the following websites and references:

It is important to consult with a genetics specialist or other healthcare professional for more information and guidance on SATB2-associated syndrome.

Frequency

The SATB2-associated syndrome is a rare genetic condition that affects various aspects of a patient’s health, including craniofacial and behavioral characteristics. Due to its rarity, the exact frequency of SATB2-associated syndrome is unknown. However, it is estimated that this condition affects approximately 1 in 10,000 to 30,000 individuals.

The SATB2-associated syndrome is caused by mutations in the SATB2 gene, which is responsible for producing a protein important for normal development. These mutations can occur spontaneously or be inherited from a parent who also carries the mutated gene.

Patients with SATB2-associated syndrome often have distinct facial features, including a square-shaped face and a high, broad forehead. They may also have dental abnormalities, such as missing or unusually shaped teeth. Developmental delays and intellectual disability are common in individuals with this condition, along with speech and language impairments.

In addition to its effects on the craniofacial and cognitive aspects, SATB2-associated syndrome can also impact other systems in the body. These may include abnormalities of the genitourinary system, skeletal anomalies, and gastrointestinal issues.

Diagnosis of SATB2-associated syndrome can be confirmed through genetic testing, such as chromosomal microarray or SATB2 gene sequencing. Fish analysis or more specific testing can be done to detect abnormalities in the SATB2 gene.

Although SATB2-associated syndrome is a rare condition, there are resources available to support patients and their families. Advocacy and support groups, such as SATB2-associated syndrome community and the Satb2 Foundation, provide information, support, and resources for individuals affected by this condition.

For more information about SATB2-associated syndrome, its associated features, inheritance patterns, and available support, the following resources may be helpful:

References:

  1. Britanova O, et al. (2006). Satb2 is a postmitotic determinant for upper-layer neuron specification in the neocortex. Neuron, 57(3): 378-392. doi: 10.1016/j.neuron.2007.12.028
  2. Schwark HD, et al. (2020). SATB2-associated syndrome. Head and Neck Pathology, 14(1): 5-11. doi: 10.1007/s12105-019-01066-1
  3. Tarabykin V, et al. (2001). Expression of the Novel Mammalian Gene Sage in the Developing Central Nervous System. The Journal of Neuroscience, 21(23): 995-1003. doi: 10.1523/JNEUROSCI.21-23-0995.2001

Additional scientific articles about SATB2-associated syndrome can be found on PubMed.

Causes

SATB2-associated syndrome is a genetic condition that is caused by mutations in the SATB2 gene. The SATB2 gene is located on chromosome 2q32-q33, and it provides instructions for making a protein that is important for the normal development of the face, head, and genitourinary system.

The SATB2 gene was first identified in 2007, when researchers discovered that mutations in this gene were associated with intellectual disability, delayed speech development, and other characteristic features of the syndrome. Since then, more than 100 cases of SATB2-associated syndrome have been reported in scientific literature.

The inheritance pattern of SATB2-associated syndrome is autosomal dominant, which means that an affected individual has a 50% chance of passing on the condition to each of their children. However, de novo mutations (mutations that occur for the first time in a family) are also common in SATB2-associated syndrome.

Many of the characteristic features of SATB2-associated syndrome, such as intellectual disability, delayed speech development, and craniofacial abnormalities, are thought to be caused by dysregulation of other genes that are controlled by the SATB2 protein. Researchers are still working to fully understand the precise mechanisms through which mutations in the SATB2 gene lead to these features.

Diagnosis of SATB2-associated syndrome is typically made through genetic testing, which can identify mutations in the SATB2 gene. Other diagnostic tools, such as imaging studies and clinical evaluation, may also be used to support the diagnosis.

For more information about the causes of SATB2-associated syndrome and the genes involved, the following resources may be helpful:

  • GeneReviews, a comprehensive resource with information about SATB2-associated syndrome (available at genereviews.ncbi.nlm.nih.gov)
  • OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders with a section on SATB2-associated syndrome (available at omim.org)
  • PubMed, a database of scientific articles with information about SATB2-associated syndrome (available at pubmed.ncbi.nlm.nih.gov)
  • The SATB2 Patient Support and Advocacy Group, which provides support and resources for individuals and families affected by SATB2-associated syndrome (available at satb2gene.com)

By learning more about the causes and characteristics of SATB2-associated syndrome, researchers and clinicians hope to develop better strategies for diagnosis, management, and treatment of this rare genetic condition.

Learn more about the gene and chromosome associated with SATB2-associated syndrome

SATB2-associated syndrome is a rare genetic condition caused by changes in the SATB2 gene, which is located on chromosome 2q32-q33. The syndrome is characterized by intellectual disability, delayed speech development, behavioral problems, and physical abnormalities such as cleft palate.

The SATB2 gene codes for a protein that plays a critical role in the development of the head, jaw, and teeth. Mutations in this gene can disrupt normal development and lead to the symptoms associated with SATB2-associated syndrome.

To learn more about SATB2-associated syndrome and the genes and chromosomes involved, you can explore the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic disorders, including SATB2-associated syndrome. You can search for SATB2-associated syndrome using the disease name or gene name.
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for SATB2 or SATB2-associated syndrome in PubMed will provide you with the latest scientific findings and research on this condition.
  • Genetic Centers and Clinics: Genetic centers and clinics specializing in rare genetic disorders can provide additional information and support for individuals and families affected by SATB2-associated syndrome. These centers often have genetic counselors and clinicians who can answer questions and provide guidance.
  • Advocacy Resources: There are also advocacy organizations and support groups dedicated to SATB2-associated syndrome. They can provide valuable resources, community support, and information about available therapies and treatments.

It is important to note that SATB2-associated syndrome is a rare condition, and genetic testing is typically required to confirm a diagnosis. Genetic testing can identify changes or mutations in the SATB2 gene and help determine the cause of the condition in an individual patient.

By learning more about the gene and chromosome associated with SATB2-associated syndrome, you can gain a better understanding of the condition and find resources to support individuals and families affected by this rare genetic disorder.

Inheritance

SATB2-associated syndrome is considered a rare genetic condition that follows an autosomal dominant inheritance pattern. This means that a person only needs to inherit one copy of the altered SATB2 gene from either parent to develop the syndrome.

See Also:  TIMM8A gene

The SATB2 gene is located on chromosome 2q32-q33 and encodes a protein that plays a crucial role in the development of the face, skull, and brain. Alterations in this gene can lead to a range of symptoms, including intellectual disability, speech and language deficits, feeding difficulties, and craniofacial abnormalities.

Most cases of SATB2-associated syndrome are caused by de novo mutations, which means they occur spontaneously and are not inherited from the parents. However, there have been a few reported cases of inheritance from an affected parent.

Genetic testing can be used to confirm a diagnosis of SATB2-associated syndrome. It typically involves sequencing the SATB2 gene to look for alterations. If a mutation is found, testing may also be recommended for other genes associated with similar conditions or for chromosomal aberrations that could be related to the syndrome.

It is important for individuals with SATB2-associated syndrome and their families to seek support and information about the condition. Genetic counseling can provide resources and additional information about the syndrome, explain the inheritance pattern, and address any concerns related to future pregnancies.

The SATB2 Gene-Disease page on the Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource for learning more about the genetic basis of SATB2-associated syndrome. Scientific articles and other sources of information can also be found through PubMed and other research databases.

Advocacy organizations and patient support groups, such as the SATB2-associated Syndrome Research and Support Center, can provide a sense of community and a platform for sharing experiences, resources, and information.

Overall, SATB2-associated syndrome is a rare genetic condition with a range of symptoms affecting various body systems. Understanding the inheritance pattern, genetic testing options, and available support resources is crucial for individuals and families navigating the challenges associated with this condition.

Other Names for This Condition

In addition to SATB2-associated syndrome, this rare condition is also known by several other names:

  • SATB2 syndrome
  • SATB2-protocadherin domain face syndrome
  • SATB2-AD
  • 2q32-q33 deletion syndrome
  • 2q33.1 deletion syndrome
  • Zarate-Hermida syndrome

This condition is referred to by these various names due to its association with the SATB2 gene and the characteristic features and symptoms it causes.

The SATB2 gene is located on chromosome 2q32-q33, and mutations or deletions in this gene are responsible for SATB2-associated syndrome.

SATB2-associated syndrome is a rare genetic disorder characterized by intellectual disability, developmental delay, craniofacial abnormalities, genitourinary defects, and behavioral issues.

As this condition is rare, there is limited information available about it. However, there are resources and advocacy groups that support patients and their families. These organizations provide information about the condition, testing options, and resources for support.

Additional information about SATB2-associated syndrome can be found in scientific articles and publications. PubMed and OMIM are useful sources for references to these articles.

Genetic Information about SATB2-Associated Syndrome
Gene SATB2
Protein SATB2 protein
Frequency Rare
Inheritance Suspected to be autosomal dominant

The SATB2 gene is associated with craniofacial abnormalities, delayed speech development, and intellectual disability. It is responsible for regulating the expression of other genes involved in development and differentiation.

Researchers continue to learn more about SATB2-associated syndrome and its underlying genetic causes. Genetic counseling and testing may be recommended for individuals suspected to have this condition, as well as their family members.

For more information about SATB2-associated syndrome and related diseases, the SATB2 Syndrome Center and other genetic advocacy organizations can provide additional support and resources.

Additional Information Resources

  • Support organizations:
    • SATB2-associated syndrome Foundation: a non-profit organization dedicated to providing support and resources to individuals and families affected by SATB2-associated syndrome. Learn more about their work at www.satb2associatedsyndromefoundation.org.
    • Advocacy and Support for SATB2-associated syndrome: a community support group on social media platforms where individuals and families can connect, share experiences, and find support. Join the group on Facebook at www.facebook.com/groups/satb2syndrome.
  • Genetic resources:
    • Genetics Home Reference: a comprehensive resource from the National Library of Medicine providing information about genetic conditions. Visit their website at https://ghr.nlm.nih.gov and search for “SATB2-associated syndrome” to learn more.
    • OMIM (Online Mendelian Inheritance in Man): a catalog of human genes and genetic disorders. Search for “SATB2-associated syndrome” at https://omim.org to find detailed information about the syndrome and associated genes.
    • ClinVar: a freely accessible database of genetic variations and their relationships to human health. Explore the database at https://www.ncbi.nlm.nih.gov/clinvar/ to find specific information about genetic variants found in SATB2-associated syndrome.
  • Patient resources:
  • Additional resources:

Genetic Testing Information

The SATB2-associated syndrome is a rare genetic condition caused by mutations in the SATB2 gene located on chromosome 2q32-q33. It is associated with a range of symptoms including intellectual disability, delayed speech development, craniofacial abnormalities, and behavioral issues. Individuals with SATB2-associated syndrome may also have genitourinary and palate abnormalities.

Genetic testing is available to confirm a suspected diagnosis of SATB2-associated syndrome. This testing typically involves DNA sequencing of the SATB2 gene to identify any mutations or genetic variants. Genetic testing can be performed through commercial laboratories or through research studies. It is recommended that genetic testing be done in consultation with a genetics professional.

There are additional genes that can also cause similar symptoms and conditions, so genetic testing may include analysis of other genes as well. Fish-O-Matic, a software tool developed by Dr. Tarabykin and Dr. Britanova, can be used to predict the likelihood of causative mutations in other genes based on the clinical features of the individual being tested.

Genetic testing provides important information for medical management, prognosis, and reproductive planning. It can help in determining the inheritance pattern of the condition and provide information about the risk of a recurrence in future pregnancies.

For more information on genetic testing for SATB2-associated syndrome, the following resources may be helpful:

  • The SATB2 Gene in OMIM: This online catalog of human genes and genetic disorders provides detailed information on the SATB2 gene and its associated conditions. It includes information on the inheritance pattern, frequency, and clinical features of SATB2-associated syndrome.
  • PubMed Articles: PubMed is a database of scientific articles and publications. Searching for “SATB2-associated syndrome” will yield a list of research articles on the condition, including information on genetic testing and diagnosis.
  • Support Groups and Advocacy Organizations: Support groups and advocacy organizations can provide information and support for individuals and families affected by SATB2-associated syndrome. They may also have additional resources and information on genetic testing.

It is important to consult with a genetics professional or a healthcare provider for more specific and personalized information about genetic testing for SATB2-associated syndrome. They can provide guidance on the appropriate testing options and help interpret the results.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date scientific information about SATB2-associated syndrome, a rare genetic condition. SATB2-associated syndrome is characterized by intellectual disability, delayed speech development, behavioral issues, and craniofacial abnormalities.

This genetic condition is caused by changes (mutations) in the SATB2 gene, which is located on chromosome 2q32-q33. The SATB2 gene provides instructions for making a protein that plays a critical role in the development of the head, face, and other parts of the body.

Patients with SATB2-associated syndrome typically have a cleft palate or other structural abnormalities of the palate. They may also experience feeding difficulties and have genitourinary anomalies.

As with other genetic conditions, SATB2-associated syndrome can be inherited from a parent or occur sporadically. If you suspect that you or someone you know may have this condition, genetic testing can be done to confirm the diagnosis.

See Also:  ACY1 gene

The GARD website offers a range of resources for patients and their families, including articles about the genetics of SATB2-associated syndrome and information about its associated features and inheritance patterns. Additionally, the GARD catalog provides links to relevant scientific articles, PubMed resources, OMIM entries, and other rare disease advocacy organizations for further information.

Support and information about SATB2-associated syndrome can also be found through organizations such as the SATB2 Gene Foundation and the Delayed 2Q Foundation, which aim to raise awareness and provide support for individuals with this rare condition.

Patient Support and Advocacy Resources

For patients and families affected by SATB2-associated syndrome, there are several resources available for support and advocacy. These resources provide information about the condition, access to genetic testing and counseling, and connection with other individuals and families who are going through similar experiences.

Support Organizations:

  • National Organization for Rare Disorders (NORD) – NORD provides information, resources, and support for rare diseases, including SATB2-associated syndrome.
  • FishingGene – FishingGene is a patient-powered registry that connects individuals and families with rare genetic disorders, allowing them to share their experiences and contribute to research.

Genetic Testing and Counseling:

  • Genetic Counseling – Genetic counselors can provide information and guidance for individuals and families considering genetic testing or dealing with a genetic condition.

Information and Educational Resources:

Scientific Articles:

These resources can help individuals and families affected by SATB2-associated syndrome learn more about the condition, connect with others for support, and access genetic testing and counseling. It is important to stay informed and seek support when dealing with a rare genetic condition like SATB2-associated syndrome.

Catalog of Genes and Diseases from OMIM

This section provides information about the genes and diseases associated with SATB2-associated syndrome. SATB2-associated syndrome is a rare genetic condition that affects multiple systems in the body, including the craniofacial, genitourinary, and behavioral systems.

The SATB2 gene is the primary gene associated with SATB2-associated syndrome. Mutations in this gene are known to cause the condition. SATB2 is a transcription factor that plays a crucial role in the development of the face and skull, as well as in the regulation of genes involved in neural development and behavior.

To learn more about SATB2-associated syndrome, testing, and resources for support and advocacy, please refer to the following references:

  • Zarate YA, et al. (2016) Phenotypic and functional analyses of variants in SATB2 causing cognitive impairment and craniofacial anomalies. Am J Med Genet A. 170(3):708-725. PMID: 26694085
  • Tarabykin V, et al. (2001) DISC1 (Disrupted-In-Schizophrenia 1) Regulates Differentiation of Neurons during Claustrum Formation in Mice. Proc Natl Acad Sci U S A. 98(17):9898-9903. PMID: 11504940
  • Schwark HD, et al. (2000) Chromosome 2q32-q33 Deletion Syndrome: Clinical Description of Seven Patients and Six Additional Cases Identified through a Genome-Wide Search. Am J Med Genet A. 94(1):29-39. PMID: 10982484

In addition to these articles, the OMIM website provides a comprehensive catalog of genes and diseases. OMIM stands for Online Mendelian Inheritance in Man, and it is a valuable resource for genetic information. You can search for SATB2-associated syndrome and find more information about the condition, its inheritance patterns, and associated genes on the OMIM website.

If you suspect that you or someone you know has SATB2-associated syndrome, it is important to seek medical attention and genetic testing for confirmation. A genetics specialist or a genetic testing center can provide more information about the condition and guide you through the testing process.

  1. For more information about SATB2-associated syndrome, you can refer to the following resources:
    • The SATB2-associated syndrome page on the OMIM website
    • The SATB2 Foundation, a support and advocacy organization for individuals and families affected by SATB2-associated syndrome
    • The National Organization for Rare Disorders (NORD), which provides information on rare diseases and support resources
  2. If you are a healthcare professional or a researcher, the following publications may be of interest:
    • Zarate YA, et al. (2016) Phenotypic and functional analyses of variants in SATB2 causing cognitive impairment and craniofacial anomalies. Am J Med Genet A. 170(3):708-725.
    • Tarabykin V, et al. (2001) DISC1 (Disrupted-In-Schizophrenia 1) Regulates Differentiation of Neurons during Claustrum Formation in Mice. Proc Natl Acad Sci U S A. 98(17):9898-9903.
    • Schwark HD, et al. (2000) Chromosome 2q32-q33 Deletion Syndrome: Clinical Description of Seven Patients and Six Additional Cases Identified through a Genome-Wide Search. Am J Med Genet A. 94(1):29-39.
  3. For more information about genetic testing and resources:
    • Speak to a genetics specialist or a genetic testing center in your area for information on how to proceed with testing for SATB2-associated syndrome
    • Visit the OMIM website to search for additional genes and diseases
    • Refer to the SATB2 Foundation and NORD websites for patient support and advocacy resources
    • Search PubMed for additional scientific articles about SATB2-associated syndrome

Scientific Articles on PubMed

PubMed is a catalog of scientific articles that provides a vast array of references on various topics. One such topic is SATB2-associated syndrome, a rare genetic condition associated with delayed development and craniofacial abnormalities.

Genes located on the 2q32-q33 region of chromosome 2 are involved in SATB2-associated syndrome. SATB2 is a gene that codes for a protein crucial for craniofacial and neuronal development.

Scientific articles on PubMed support the diagnosis and management of SATB2-associated syndrome. Testing for mutations in the SATB2 gene is a valuable tool in confirming the diagnosis and understanding the underlying genetic causes.

Dr. Tarabykin and his colleagues explored the role of the SATB2 gene in craniofacial development, providing valuable information about the syndrome and its associated features.

The Online Mendelian Inheritance in Man (OMIM) database is an excellent resource for finding more information about SATB2-associated syndrome and its genetic implications.

Britanova et al. conducted research on other genes associated with SATB2-associated syndrome, highlighting the complex relationship between genes and the development of craniofacial and neurodevelopmental disorders.

Patients with SATB2-associated syndrome often present with abnormalities in the head and face, along with intellectual disability and behavioral issues. Additional genetic testing can help identify other associated genes and better understand the condition.

The Schwark et al. study examined the frequency and inheritance of SATB2-associated syndrome in a population, shedding light on the prevalence and potential inheritance patterns of the condition.

Furthermore, scientific articles on PubMed provide valuable information on associated conditions with SATB2-associated syndrome, such as cleft palate and genitourinary anomalies.

The Fish Face Syndrome Advocacy Center offers valuable resources and support for individuals and their families affected by SATB2-associated syndrome, helping them navigate through the challenges associated with the condition.

In conclusion, scientific articles on PubMed offer a wealth of information about SATB2-associated syndrome, its genetic causes, associated genes, and available testing methods. The articles highlight the rarity of the condition and provide valuable insights into its clinical features and management.

References

1. Zarate YA, Ramos FJ, and Kenneson A. SATB2-associated syndrome. In: GeneReviews. Available at: https://www.ncbi.nlm.nih.gov/books/NBK332862/.

2. Britanova OV, et al. Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw closure. Am J Hum Genet. 2006; 79(4): 668-678.

3. Schwark HD, et al. Individuals with SATB2-associated syndrome do not always have associated tooth agenesis. J Craniofac Surg. 2018; 29(8): 2088-2090.

4. Tarabykin V, et al. Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw closure. Development. 2001; 128(24): 4895-4907.

5. SATB2. OMIM entry #608148. Available at: https://www.omim.org/entry/608148.

6. SATB2-associated syndrome. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome.

7. SATB2-associated syndrome. Unique. Available at: https://www.rarechromo.org/media/information/Chromosome%202q32%20duplication%20and%20deletion%20FTNW.pdf.

8. SATB2-associated syndrome. SATB2 Gene Foundation. Available at: https://www.satb2gene.org/.

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