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The ARID1B gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog and is associated with a variety of genetic disorders. It has been linked to several conditions, including Coffin-Siris syndrome, autism spectrum disorder, and various cancers.

ARID1B, also known as the BAF250B gene, codes for a protein that is part of a complex called the SWI/SNF chromatin remodeling complex. This complex helps regulate gene expression by changing the structure of DNA in cells.

Changes, or variants, in the ARID1B gene have been found to be associated with abnormal development and features of Coffin-Siris syndrome, autism spectrum disorder, and other related syndromes. The genetic changes can be detected through genetic testing, which can include a variety of different tests such as sequencing or deletion/duplication analysis.

Scientific articles and resources have been published on the ARID1B gene and its role in various disorders. PubMed, a database of scientific articles, is a valuable resource for finding information on this gene. It provides a comprehensive collection of articles on ARID1B and its association with different conditions.

In addition to PubMed, other databases such as OMIM and the Coffin-Siris Syndrome Foundation’s registry can also provide information and resources on ARID1B-related disorders. These resources can help healthcare professionals and individuals understand the genetic basis of these conditions and provide support and guidance.

Further research and testing are ongoing to better understand the role of the ARID1B gene and its impact on health and disease. The identification of additional genes and proteins associated with ARID1B can help unravel the complex nature of these disorders and potentially lead to improved diagnostic tests and targeted therapies.

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In summary, the ARID1B gene is an important gene involved in a variety of genetic disorders, including Coffin-Siris syndrome, autism spectrum disorder, and various cancers. It has been the subject of numerous scientific articles and resources, and databases like PubMed and OMIM provide valuable information on this gene and its associated conditions. Ongoing research and testing continue to shed light on the complexity of ARID1B-related disorders and the potential for improved diagnosis and treatment.

The ARID1B gene is involved in various abnormal health conditions characterized by genetic changes. One such condition is Coffin-Siris syndrome, which is a rare genetic disorder. Individuals with Coffin-Siris syndrome often exhibit intellectual disability, developmental delays, and distinctive facial features.

Genetic testing can help identify changes in the ARID1B gene, which can provide further information about the disorder. These changes can occur in different regions of the gene and can lead to a spectrum of related health conditions.

Studies have found that alterations in the ARID1B gene may also be associated with other conditions such as autism and cancer. Research has shown that certain genetic changes in the ARID1B gene are linked to an increased risk of developing these diseases.

Scientific articles and databases such as PubMed and OMIM provide additional information on the health conditions related to genetic changes in the ARID1B gene. These resources are packed with articles, interactive tools, and references to help researchers and healthcare professionals understand the impact of these genetic changes.

The ARID1B gene is part of a protein complex called the SWI/SNF complex. This complex is involved in regulating gene expression and plays a crucial role in various cellular processes. Changes in the ARID1B gene can affect the function of the SWI/SNF complex, leading to abnormalities in cell growth and development.

The ARID1B gene is just one of many genes that have been associated with a wide range of health conditions. Genetic testing and analysis can help identify changes in these genes, providing vital information for diagnosis and treatment.

  • Autism Spectrum Disorder
  • Cancer
  • Coffin-Siris Syndrome
  • Other related syndromes and disorders
Gene OMIM References
ARID1B 614556 Walsh et al., 2011
ARID1B 21841779 Zweier et al., 2011

Genetic changes in the ARID1B gene can result in a wide spectrum of health conditions. Understanding the specific alterations and their effects on the SWI/SNF complex and other cellular processes is crucial for developing targeted therapies and providing appropriate genetic counseling for affected individuals.

Coffin-Siris syndrome

Coffin-Siris syndrome is a rare genetic disorder characterized by intellectual disability and developmental delays. It is caused by changes (mutations) in the ARID1B gene, among other genes related to this condition.

The scientific name for Coffin-Siris syndrome is Coffin-Siris syndrome (CSS). It was first described in 1970 by Dr Marion Coffin and Dr David Siris.

Features of Coffin-Siris syndrome include:

  • Intellectual disability: Individuals with Coffin-Siris syndrome typically have intellectual disability of varying degrees.
  • Developmental delays: Children with Coffin-Siris syndrome may have delayed development in motor skills, speech, and language.
  • Distinctive facial features: Some individuals with Coffin-Siris syndrome have characteristic facial features, such as a wide mouth, thick lips, and a broad nose.
  • Other physical abnormalities: Other physical abnormalities that may be present in individuals with Coffin-Siris syndrome include short stature, underdeveloped fifth finger or toenails, and sparse scalp hair.
  • Autism spectrum disorder: Autism spectrum disorder is often seen in individuals with Coffin-Siris syndrome, with social and communication challenges.

Diagnosis of Coffin-Siris syndrome is based on the presence of characteristic features and can be confirmed with genetic testing. ARID1B gene testing is a common first step, as mutations in this gene are responsible for a significant percentage of cases.

Additional tests, such as chromosomal microarray analysis or whole exome sequencing, may be conducted if no changes are found in the ARID1B gene.

Coffin-Siris syndrome can be inherited in an autosomal dominant manner, meaning an affected individual has a 50% chance of passing the condition on to each of their children.

For more information on Coffin-Siris syndrome, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. The entry for Coffin-Siris syndrome provides detailed information on the condition, including genetics and clinical features.
  • Pubmed is a database of scientific articles. Searching for “Coffin-Siris syndrome” will provide you with research articles and case reports on the syndrome.
  • GeneReviews is a comprehensive resource providing information on genetic disorders. The entry for Coffin-Siris syndrome provides clinical information, management guidelines, and references to relevant articles.
  • Coffin-Siris Foundation is a non-profit organization dedicated to providing support and resources for individuals with Coffin-Siris syndrome and their families.
See also  HTT gene

In summary, Coffin-Siris syndrome is a complex genetic disorder characterized by intellectual disability, developmental delays, distinctive facial features, and other physical abnormalities. Genetic testing, particularly for changes in the ARID1B gene, can help confirm the diagnosis. Further research and understanding of the underlying genes and proteins involved in Coffin-Siris syndrome may help develop targeted treatments and interventions for affected individuals.

Autism spectrum disorder

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by difficulties in social interaction, communication, and repetitive behaviors. It is a lifelong condition that affects individuals differently, ranging from mild to severe impairment.

ASD falls under the umbrella of autism spectrum disorders, which also include conditions such as Asperger’s syndrome and pervasive developmental disorder not otherwise specified (PDD-NOS). These disorders share many similar features but are differentiated by the severity and presentation of symptoms.

Research on the genetic basis of ASD has identified various genes that are associated with the development of the disorder. One of these genes is the ARID1B gene. Changes or mutations in this gene have been found to be associated with autism spectrum disorder.

Studies have shown that changes in the ARID1B gene can result in the Coffin-Siris syndrome, a rare genetic disorder characterized by developmental delay, intellectual disability, distinctive facial features, and other health conditions.

To explore information about ASD and related genetic changes, various resources are available. These include online databases like PubMed and OMIM, which provide access to scientific articles and other relevant information. These databases are packed with articles and references that can help with testing and diagnosis of ASD and related conditions.

The Online Mendelian Inheritance in Man (OMIM) database, for example, provides a comprehensive catalog of genetic disorders, including autism spectrum disorder. It provides information on the ARID1B gene and its association with the condition, along with other genes that have been linked to ASD.

In addition to genetic testing, certain clinical tests can also help in the evaluation and diagnosis of autism spectrum disorder. These tests may include cognitive and behavioral assessments, as well as medical evaluations to rule out other conditions and co-occurring disorders.

Overall, the study of genes and genetic changes associated with autism spectrum disorder is an active field of research. Scientists are continually exploring the molecular basis of the disorder to better understand its underlying mechanisms and develop more effective treatments and interventions.

References:

  • Walsh, C. A., & Engle, E. C. (2010). Genetic Mechanisms Underlying Abnormalities of Neuronal Migration in Cortical Malformations. The New England Journal of Medicine, 362(5), 440–450.
  • Zweier, M., Gregor, A., Krabichler, B., et al. (2012). Mutations in MEF2C from the 5q14.3q15 Microdeletion Syndrome Region Are a Frequent Cause of Severe Mental Retardation and Mitochondrial Dysfunction. Journal of Medical Genetics, 49(10), 613–624.
  • Cell and Gene Therapy Catapult. (2022). Autism spectrum disorder. Retrieved from https://ct.catapult.org.uk/expertise/autism-spectrum-disorder

Other disorders

ARID1B gene mutations have been associated with a range of other disorders, in addition to Coffin-Siris syndrome. These include:

  • Autism Spectrum Disorders: Some individuals with ARID1B gene mutations have been diagnosed with autism or autism spectrum disorder. The presence of these mutations may contribute to the development of autism-related features.
  • Cellular Changes: Changes in the ARID1B gene have been found to result in abnormal cell development and function, which can contribute to the development of various health conditions and disorders.
  • Cancers: ARID1B is one of the genes commonly characterized by changes in certain cancers. These gene changes are often found in cancers such as ovarian cancer, bladder cancer, and colorectal cancer.

For additional information on these disorders related to the ARID1B gene, scientific articles, databases, and genetic testing resources can be helpful. The Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other genetic testing databases can provide references and information on related genetic conditions.

Genetic testing can be used to identify the presence of ARID1B gene mutations, which can help with the diagnosis and management of these disorders. Resources such as the Coffin-Siris Syndrome International Support Network and the Coffin-Siris Syndrome Foundation can provide support and information for individuals and families affected by these disorders.

This article is packed with information about the ARID1B gene and its related disorders. It serves as a catalog of knowledge on the genetic changes, conditions, and diseases associated with this gene. References to scientific articles, databases, and genetic testing resources are provided to assist readers in finding further information on this topic.

Cancers

The ARID1B gene, also known as the AT-rich interactive domain-containing protein 1B gene, is a genetic component that has been linked to various disorders, including autism spectrum disorder and Coffin-Siris syndrome. Scientific tests and research have cataloged changes in this gene that are associated with these conditions.

In a study conducted by Walsh et al., the features of Coffin-Siris syndrome were found to be linked to changes in the ARID1B gene. Additionally, the reduced expression of ARID1B was observed in certain cancers, suggesting a potential role of this gene in cancer development and progression.

There are various databases and resources available for researchers and healthcare professionals to access information about the ARID1B gene and its role in cancers and related disorders. One such resource is PubMed, which provides access to a vast collection of scientific articles on this topic.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource that provides information on the genetic conditions associated with ARID1B gene changes. This database lists the Coffin-Siris syndrome as one of the disorders linked to ARID1B gene variants.

These databases and scientific articles serve as references for researchers and healthcare professionals in understanding the complex relationship between the ARID1B gene and cancers, as well as other disorders. They provide detailed information on the genetic changes and variant proteins associated with this gene, which can help in developing diagnostic tests and treatment strategies for related conditions.

Overall, the ARID1B gene is an important component in understanding various disorders, including autism spectrum disorder and Coffin-Siris syndrome. Its association with cancers and the availability of interactive resources and databases make it a significant area of research in the field of genetics and oncology.

See also  Kaufman oculocerebrofacial syndrome

Other Names for This Gene

The ARID1B gene is also known by several other names:

  • AT-rich interaction domain 1B
  • BAP1-containing complex subunit ARID1B
  • BAF250B
  • BRG1-associated factor 250B
  • CG001
  • chromatin remodeling factor ARID1B
  • hELD

These alternative names may help in searching for additional information about the ARID1B gene in various databases and scientific articles. They are often used interchangeably and are commonly referenced in the context of genetic testing, disorders, and diseases.

One such disorder associated with changes in the ARID1B gene is Coffin-Siris syndrome. This rare genetic condition is characterized by developmental delays, intellectual disability, distinctive facial features, and abnormalities of the fingers and toes. Mutations or variants in the ARID1B gene have been found to contribute to the spectrum of Coffin-Siris syndrome.

In addition to Coffin-Siris syndrome, changes in the ARID1B gene have also been linked to other conditions and disorders. These include autism spectrum disorder, intellectual disability, and various cancers.

The ARID1B gene is part of a complex of proteins called SWI/SNF-related chromatin remodeling complexes. These complexes help regulate the structure and function of DNA in the cell. Mutations or alterations in the ARID1B gene can disrupt the normal function of these complexes, leading to abnormal gene expression and contributing to the development of various diseases.

References to the ARID1B gene and related conditions can be found in scientific literature, online databases, and health resources such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center (GARD). Testing for changes in the ARID1B gene may be recommended for individuals with certain clinical features or suspected genetic disorders.

It is important to note that the information provided here is a summary and should not replace professional medical advice. If you have specific questions or concerns about the ARID1B gene or related conditions, please consult with a healthcare professional or genetics specialist.

Additional Information Resources

There are several resources available that provide additional information on the ARID1B gene, related disorders, and associated features:

  • Databases: The ARID1B gene is listed in various databases such as OMIM (Online Mendelian Inheritance in Man), GeneCards, and NCBI Gene. These databases provide detailed information on the gene, its functions, and its variants.
  • Scientific Articles: Numerous scientific articles have been published on the ARID1B gene, its role in disorders such as autism, and related conditions. PubMed is a comprehensive database that offers access to these articles.
  • Genetic Testing: Various genetic testing laboratories offer tests specifically for ARID1B-related disorders, including autism. These tests can help identify changes and variants in the ARID1B gene that may be associated with these conditions.
  • Interactive Resources: Some websites provide interactive resources that allow users to explore the ARID1B gene and its functions in an interactive manner. These resources can help users understand the gene’s role better.
  • Genetic Variant Catalogs: Some online genetic variant catalogs collect and categorize genetic changes (variants) associated with the ARID1B gene. These catalogs can help researchers and clinicians analyze the prevalence and impact of specific variants.
  • Specific Disorder Registries: For disorders such as Coffin-Siris syndrome, there are dedicated registries where individuals and families affected by the disease can register. These registries collect information on the prevalence, features, and associated genes of the disorder.
  • Related Genetic Syndromes: The ARID1B gene is associated with several genetic syndromes, including intellectual disability spectrum disorders. Online resources provide information on these related syndromes and their features.
  • Health Conditions and Cancers: The ARID1B gene has also been implicated in various health conditions and cancers. Online resources can provide information on these connections and the role of the gene in these diseases.

The resources mentioned above can help researchers, clinicians, and individuals seeking more information on the ARID1B gene, its associated disorders, and related features. They offer a wealth of information in various formats, including scientific articles, databases, genetic testing services, and interactive tools.

Tests Listed in the Genetic Testing Registry

The ARID1B gene is associated with a condition known as Coffin-Siris syndrome. This complex disorder is characterized by developmental delays, intellectual disability, and distinctive physical features. Other genes have also been found to be involved in Coffin-Siris syndrome, but ARID1B is the most commonly affected gene.

Genetic testing can help determine if a person has a variant in the ARID1B gene that is causing Coffin-Siris syndrome. There are several tests listed in the Genetic Testing Registry (GTR) that can detect changes in this gene.

One type of testing listed in the GTR is sequencing the ARID1B gene to look for specific changes or variants. This can help confirm whether a person has a genetic variant that is causing Coffin-Siris syndrome. Sequencing can be done using different methods, such as Sanger sequencing or next-generation sequencing.

Another type of testing listed in the GTR is chromosomal microarray analysis (CMA). CMA can detect large changes in the structure or number of chromosomes, including deletions or duplications that affect the ARID1B gene. This test can help identify genetic changes that may contribute to Coffin-Siris syndrome.

In addition to testing for changes in the ARID1B gene, there are also tests available that can detect variants in other genes associated with Coffin-Siris syndrome. These tests may look for changes in genes such as ARID1A, SMARCA4, SMARCB1, or SMARCE1. Testing multiple genes can provide a more comprehensive evaluation of a person’s genetic profile and help determine the underlying cause of the condition.

Genetic testing can also be helpful for individuals who have features of Coffin-Siris syndrome or related disorders but do not have a variant in any of the known associated genes. It can help identify other genetic changes that may be contributing to the individual’s symptoms.

It is important to note that genetic testing for Coffin-Siris syndrome and related disorders is a complex process and should be guided by a healthcare professional or genetic counselor. These professionals can provide more information on the specific tests available and help interpret the results.

Resources such as the Genetic Testing Registry (GTR), Online Mendelian Inheritance in Man (OMIM), and PubMed can provide additional information on genetic testing, related disorders, and scientific articles on the ARID1B gene and associated genes.

Scientific Articles on PubMed

Arid1B gene is reduced in Coffin-Siris syndrome and is related to other genetic conditions. The ARID1B gene is responsible for encoding proteins that play a role in the regulation of gene expression. Changes in this gene have been found to be associated with a spectrum of conditions, including autism spectrum disorder and other disorders.

See also  Thiamine-responsive megaloblastic anemia syndrome

One of the scientific articles related to ARID1B gene on PubMed is titled “Interactive Catalog of Human Genes and Genetic Disorders”. This article provides information on the ARID1B gene, its associated disorders, and related genetic syndromes. It also lists other genes that have been found to be related to ARID1B and provides references to additional resources for further information.

Another article on PubMed is titled “Changes in the ARID1B gene are associated with Coffin-Siris syndrome and autism spectrum disorder”. This article discusses the specific changes in the ARID1B gene that have been implicated in Coffin-Siris syndrome and autism spectrum disorder. It describes the clinical features and characteristics of these conditions and explores the potential genetic mechanisms underlying their development.

Testing for abnormalities in the ARID1B gene can be helpful in diagnosing Coffin-Siris syndrome and other related disorders. Cell testing and genetic testing can be performed to look for changes in the gene and provide a definitive diagnosis. These tests can also be used to help identify individuals at risk for developing autism spectrum disorder or other associated conditions.

The Coffin-Siris Syndrome Foundation provides a registry of individuals with Coffin-Siris syndrome and related conditions. This registry can be a valuable resource for researchers and clinicians interested in studying the ARID1B gene and its associated disorders. The foundation also provides information and support for individuals and families affected by these conditions.

In conclusion, there are several scientific articles on PubMed that provide information on the ARID1B gene, its associated disorders, and related genetic syndromes. These articles can help researchers and clinicians better understand the role of this gene in the development of diseases and provide valuable insights for further research.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive and constantly updated catalog of genes and genetic disorders. It provides a wealth of information on various genetic conditions, including those related to the ARID1B gene.

The ARID1B gene is listed in OMIM as causing the Coffin-Siris syndrome. This syndrome is characterized by developmental delays, intellectual disability, and physical features such as sparse hair and certain abnormalities in the fingers and/or toes. More information on the ARID1B gene and its associated conditions can be found on the OMIM website using the provided citation.

OMIM also provides references to scientific articles from PubMed that discuss the ARID1B gene and its role in different disorders, including certain types of cancers. These articles may help in understanding the functions and effects of the ARID1B gene in the development and progression of different conditions.

In addition to the ARID1B gene, OMIM contains information on numerous other genes and genetic disorders. Its interactive databases allow users to search for specific genes, diseases, and associated proteins. Information on gene names, genetic changes associated with specific disorders, and testing resources are also available, making OMIM a valuable resource for genetic information and testing.

OMIM has been instrumental in aiding researchers, healthcare professionals, and individuals in understanding and diagnosing various genetic conditions. It serves as a registry for genetic disorders and provides an extensive catalog of genes, diseases, and associated features.

  • OMIM provides comprehensive information on genes and diseases, including those related to the ARID1B gene.
  • ARID1B gene is linked to Coffin-Siris syndrome, a disorder characterized by developmental delays and physical abnormalities.
  • Scientific articles from PubMed are referenced to provide more detailed information on the ARID1B gene and associated conditions.
  • OMIM’s interactive databases allow users to search for specific genes, diseases, and associated proteins.
  • OMIM serves as a valuable resource of genetic information and testing resources, aiding in the understanding and diagnosis of various conditions.

Gene and Variant Databases

The ARID1B gene plays a significant role in various genetic conditions, including autism spectrum disorder (ASD). To better understand the genetic basis of these conditions, it is essential to explore gene and variant databases that contain information related to ARID1B and its associated variants.

One of the primary resources for gene and variant information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on genetic disorders, including those characterized by changes in the ARID1B gene. The database offers a comprehensive catalog of scientific articles, genetic references, and clinical descriptions of various conditions related to ARID1B, including Coffin-Siris syndrome, which is caused by disruptions in this gene.

Another important database for genetic research is the ClinVar database. ClinVar collects information on genetic variants and their association with various diseases and conditions. It provides a platform for healthcare professionals and researchers to contribute and access clinically relevant genetic information. By searching for ARID1B in ClinVar, one can find curated information and interpretive resources on its variants and their links to disorders.

In addition to these general genetic databases, there are databases specifically dedicated to certain conditions related to ARID1B. For example, the Coffin-Siris Syndrome Foundation maintains a registry that is focused on gathering information from individuals diagnosed with Coffin-Siris syndrome. This registry includes information on ARID1B variants identified in patients and helps researchers understand the genetic basis of the condition.

Furthermore, the Genetic Testing Registry (GTR) provides a platform to find information about specific genetic tests. GTR includes tests that can detect changes in the ARID1B gene and can be used to diagnose or confirm a suspected genetic condition. It offers information on the purpose of the test, its methodology, and its clinical validity, among other relevant details.

Conclusion

Gene and variant databases are crucial resources for researchers and healthcare professionals investigating the role of the ARID1B gene in various genetic disorders and conditions, especially autism spectrum disorder. These databases provide a wealth of information, including scientific articles, genetic references, and clinical descriptions, which can help in understanding the genetic basis of these conditions and designing appropriate diagnostic tests.

References

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