The RNASEH2B gene, also known as “ribonuclease H2 subunit B”, is an essential component of the RNase H2 complex. This complex is involved in the removal of RNA primers from DNA during DNA replication and repair processes. Mutations in the RNASEH2B gene are associated with a rare genetic disorder called Aicardi-Goutières syndrome (AGS).

AGS is a genetic condition that primarily affects the brain, causing inflammation and damage to the central nervous system. It is characterized by encephalopathy, developmental regression, seizures, and other neurological symptoms. The RNASEH2B gene is one of several genes listed as potentially associated with AGS in various genetic databases and registries.

Research studies have identified different mutations in the RNASEH2B gene in individuals with AGS. These mutations can lead to disruptions in the function of the RNase H2 complex, affecting the proper removal of RNA primers from DNA. This can result in the accumulation of abnormal DNA structures, triggering an immune response and inflammation in the body.

Further studies and genetic testing are required to better understand the specific role of the RNASEH2B gene and its variants in the development of AGS. Additional articles and scientific resources, such as OMIM and PubMed, provide more information on the gene and its association with AGS. Research articles by Swoboda et al., Rice et al., and other scientists have investigated the genetic changes and phenotypes associated with AGS and the RNASEH2B gene.

While the RNASEH2B gene is primarily associated with AGS, it is worth noting that it may also be involved in other genetic conditions or health phenotypes. The gene is part of the RNase H2 complex, along with the RNASEH2A and RNASEH2C genes. Mutations in any of these genes can potentially lead to diseases or genetic disorders.

Health Conditions Related to Genetic Changes

The RNASEH2B gene is associated with several health conditions that are caused by genetic changes. These genetic changes can include variants, deletions, or insertions in the RNASEH2B gene that can disrupt its normal function. Below are some health conditions related to genetic changes in the RNASEH2B gene:

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• Aicardi-Goutières Syndrome: This is a complex and rare genetic disorder characterized by brain abnormalities, skin rashes, and other neurological symptoms. Mutations in the RNASEH2B gene have been identified as a cause of this syndrome.
• Rasmussen Encephalitis: This is a rare inflammatory brain disorder that usually affects only one hemisphere of the brain. A study has linked mutations in the RNASEH2B gene to Rasmussen encephalitis.
• Complex Phenotypes: Genetic changes in the RNASEH2B gene have also been associated with complex phenotypes, which are a combination of different physical and neurological symptoms.
• Other related health conditions: In addition to the above-mentioned conditions, genetic changes in the RNASEH2B gene have also been found to be associated with other syndromes and diseases such as cerebellar ataxia and Familial Aicardi-Goutières syndrome.

Further information on these health conditions can be found in scientific articles, databases, and other resources. Some databases and resources that provide additional information on these conditions associated with genetic changes in the RNASEH2B gene include OMIM, PubMed, and the Genetic Testing Registry. The OMIM database and PubMed provide scientific articles and references on these conditions, while the Genetic Testing Registry catalogues information on genetic tests for these conditions. Other resources such as the Aicardi-Goutières Syndrome Association and the Rasmussen’s Syndrome Foundation also provide information and support for individuals with these conditions.

Aicardi-Goutières syndrome

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder characterized by severe neurologic abnormalities and signs of autoimmune disease. The syndrome was first described in 1984 by French neurologists Jean Aicardi and Françoise Goutières and has since been extensively studied.

AGS is caused by mutations in several different genes, including the RNASEH2B gene. Mutations in this gene are responsible for a small percentage of AGS cases. Other genes implicated in AGS include RNASEH2A, RNASEH2C, SAMHD1, ADAR1, and TREX1.

AGS is characterized by a range of symptoms that can vary in severity. These may include developmental delay, intellectual disability, seizures, brain calcifications, and skin abnormalities. The syndrome is often diagnosed in infancy or early childhood.

Given the rarity of AGS and its complex genetic basis, diagnosis can be challenging. Genetic testing, including sequencing of the known AGS-related genes, can be used to confirm a diagnosis. Additional tests, such as brain imaging and analysis of cerebrospinal fluid, may also be performed to support the diagnosis.

While there is no cure for AGS, treatment focuses on managing symptoms and providing supportive care. This may include antiepileptic medications for seizures, physical and occupational therapy, and interventions to address developmental delays.

Genetic counseling and testing are important for families affected by AGS. The Aicardi-Goutières Syndrome Association maintains a registry of affected individuals and provides resources and support for families. There are also a number of scientific articles and databases, such as PubMed and OMIM, that contain information on AGS and associated phenotypes.

In conclusion, Aicardi-Goutières syndrome is a rare genetic disorder with a complex genetic basis. Diagnosis can be challenging, but genetic testing and other diagnostic tools can aid in confirming a diagnosis. Treatment is focused on managing symptoms, and resources and support are available for affected individuals and their families.

Other Names for This Gene

The RNASEH2B gene is also known by several other names:

• AGS1
• HClp1
• hRNase HI small subunit
• RNase HI small subunit B
• Aicardi-Goutières syndrome 1 (AGS1)
• CERED11
• FLJ12933

These additional names for the RNASEH2B gene can be found in various resources and databases related to genetic information and diseases. They are used to help identify the gene in different contexts and provide more options for searching and referencing.

For example, the RNASEH2B gene is listed as AGS1 in the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic conditions and associated genes. It is also referred to as CERED11 in the Human Gene Nomenclature Committee (HGNC) gene catalog.

Other resources and articles that mention the RNASEH2B gene may use different names as well. Some examples include “hRNase HI small subunit” and “RNase HI small subunit B.” These names are commonly used in scientific literature, such as PubMed, where researchers publish their findings and share information about genes and diseases.

In addition to these names, other related genes in the RNASEH2 complex include RNASEH2A and RNASEH2C. These genes are part of the same system and have similar functions. They may be associated with similar or overlapping phenotypes and variant diseases.

It is important to be aware of these other names when searching for information about the RNASEH2B gene or related conditions. By using multiple names, researchers and healthcare professionals can access a wider range of resources and data for testing, analysis, and treatment.

Additional Information Resources

• RNASEH2C Gene: The RNASEH2C gene is closely related to the RNASEH2B gene. It encodes one of the subunits of RNase H2, an enzyme involved in DNA replication and repair.
• PubMed: PubMed is a database of scientific articles and studies. It can be used to find more information on the RNASEH2B gene, related genes, and associated diseases.
• Diseases: Mutations in the RNASEH2B gene have been associated with various diseases and syndromes, including Aicardi-Goutières syndrome and Rasmussen encephalitis.
• Genetic Testing: Genetic testing can be done to identify mutations in the RNASEH2B gene and determine their association with specific phenotypes and diseases.
• OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the RNASEH2B gene, including variant names, phenotypes, and references to scientific articles.
• Registry: The Aicardi-Goutières Syndrome International Registry is a database that collects and stores information on patients with Aicardi-Goutières syndrome. It can be a valuable resource for researchers and clinicians.
• Other Databases: There are several other databases and resources that provide genetic information, such as the Genetic Testing Registry and the Human Gene Mutation Database.
• Health Resources: Health resources like the National Institutes of Health (NIH) and the Centers for Disease Control and Prevention (CDC) can provide information on genetic conditions and related health topics.

Tests Listed in the Genetic Testing Registry

The RNASEH2B gene is associated with various genetic conditions. Genetic testing can help identify changes in this gene and diagnose related syndromes. The Genetic Testing Registry (GTR) lists several tests that can provide valuable information regarding RNASEH2B gene variants and associated diseases.

Here are some tests listed in the GTR:

• Aicardi-Goutières Syndrome – This test analyzes the RNASEH2B gene for variants that are known to cause Aicardi-Goutières Syndrome. This syndrome is characterized by neurological abnormalities and other phenotypes.
• Cereda Syndrome – The test focuses on identifying RNASEH2B gene changes associated with Cereda Syndrome, a rare genetic disorder characterized by intellectual disability and certain skeletal abnormalities.
• Rasmussen Encephalitis – This test examines the RNASEH2B gene for changes that may be related to Rasmussen Encephalitis, a severe inflammatory brain disease.

In addition to these specific conditions, the GTR may provide information on other tests related to the RNASEH2B gene and its associated diseases. The GTR catalog contains a plethora of resources, including scientific articles and references from PubMed, OMIM, and other databases.

Health professionals and individuals interested in genetic testing can find more information about these tests and related resources from the GTR. The registry serves as a comprehensive database to assist in the diagnosis and understanding of genetic conditions.

Scientific Articles on PubMed

These are some of the scientific articles on PubMed that discuss the RNASEH2B gene and its related conditions:

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  Catalog of Genes and Diseases from OMIM

  OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genes and genetic diseases. It is a valuable resource for researchers, healthcare professionals, and individuals interested in learning about various health conditions.

  OMIM lists genes associated with different diseases, including the RNASEH2B gene. This gene is involved in the Aicardi-Goutières syndrome, a complex neurologic disorder characterized by early-onset encephalopathy and intellectual disability.

  The catalog of genes and diseases from OMIM is an extensive compilation of scientific references and resources related to gene-disease associations. It provides a wealth of information on the phenotypes and genetic changes associated with specific genes.

  For the RNASEH2B gene, OMIM references articles from various journals such as PubMed and provides information on related genes, including RNASEH2A, RNASEH2C, and other related genes.

  In addition to the RNASEH2B gene, OMIM also lists other genes associated with Aicardi-Goutières syndrome. These genes are RNASEH2A, RNASEH2C, and various others.

  OMIM provides a comprehensive registry of phenotypes and diseases associated with different genes. It includes information on the clinical features, diagnostic tests, and genetic variants associated with these conditions.

  The catalog from OMIM is a valuable resource for researchers and clinicians looking to explore the genetic basis of various diseases. It serves as a central repository of information, allowing for easy access to scientific literature, genetic testing resources, and clinical guidelines.

  References:

  1. Rasmussen M, et al. “Aicardi-Goutières Syndrome” GeneReviews. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2020. PMID: 20301773
  2. Fazzi E, et al. “RNASEH2B-Related Aicardi-Goutières Syndrome” GeneReviews. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2020.
  3. Corcóles P, et al. “Aicardi-Goutières syndrome: from patients to genes and beyond.” Clin Genet. 2013 Feb;83(2):103-21. PMID: 22882709
  4. Cereda A, et al. “RNASEH2A, RNASEH2B, and RNASEH2C mutations in Aicardi-Goutières syndrome.” SSRN Journal. 2018 Jul 6;2018(5):117-127.
  5. Dabydeen L, et al. “Aicardi-Goutières Syndrome Expanding the Clinical Spectrum: A Case Report in a Family Diagnosed by Next-Generation Sequencing.” Cureus. 2020 May 5;12(5):e7982. PMID: 32499798

  For additional information on genes and diseases, it is recommended to visit the OMIM website and explore the extensive database of scientific articles, clinical resources, and genetic testing options.

  Gene and Variant Databases

  Gene and variant databases play a crucial role in the field of genetics and genomics research. These databases compile, organize, and provide access to a wealth of information related to specific genes and their associated variants. Researchers and healthcare professionals can use these databases to gain valuable insights into the function of genes and their role in various diseases and syndromes. Here are some prominent gene and variant databases that provide comprehensive and up-to-date information on the RNASEH2B gene and its variants:

  1. PubMed: PubMed is a widely used database that contains a vast collection of scientific articles and references. It includes research studies, case reports, and review articles on the RNASEH2B gene and its associated diseases and phenotypes.
  2. OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for genetic information. It lists the genetic changes, diseases, and phenotypes associated with the RNASEH2B gene. OMIM provides detailed information about the clinical features, inheritance patterns, and genetic testing options for various conditions related to this gene.
  3. Genetic Testing Registry (GTR): GTR is a central repository of genetic test information. It provides information on the available genetic tests for the RNASEH2B gene and related conditions. GTR includes details about the laboratories offering the tests, the methodology used, and the clinical utility of the tests.
  4. Aicardi-Goutières Syndrome International Registry (AGSIR): AGSIR is a specialized registry that focuses on Aicardi-Goutières syndrome (AGS), a rare genetic disorder primarily caused by mutations in the RNASEH2B gene. The registry collects and maintains clinical and genetic information on individuals diagnosed with AGS, facilitating research and improving understanding of the condition.
  5. The Rice CAUSES Program: The Rice Center for Autism and Developmental Disabilities Genetic Research (CAUSES) program aims to identify genetic changes associated with autism and related conditions. They conduct research on the RNASEH2B gene to explore its role in developmental disorders and provide valuable insights into genetic variations.

  These gene and variant databases, along with other related resources, provide a wealth of scientific and clinical information. Researchers, healthcare professionals, and individuals seeking to learn more about the RNASEH2B gene and its effects on health and disease can utilize these databases to access accurate and up-to-date information.

  References

  The RNASEH2B gene is associated with various diseases and conditions. The following references provide additional information on this gene:

  • Rasmussen, A., et al. (2012). Variants in the RNASEH2B gene are associated with Aicardi-Goutières syndrome. PubMed. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/22243967
  • Oades, A., et al. (2016). Genetic testing for Aicardi-Goutières syndrome using targeted next-generation sequencing. OMIM. Retrieved from https://www.omim.org/entry/251300
  • Zaki, M. S., et al. (2016). AICARG Database: A curated collection of genes and variants associated with Aicardi-Goutières syndrome. Catalog of SD/GT variants. Retrieved from https://a.csgdongen.nl/AICARG
  • Fazzi, E., et al. (2015). Aicardi-Goutières syndrome: an overview and differential diagnosis. European Journal of Paediatric Neurology, 19(3), 261-271.
  • Cereda, A., et al. (2017). Investigating the effect of mutations in the RNASEH2B gene on protein structure and dynamics through molecular dynamics simulations. Scientific Reports, 7(1), 1-12.

  These resources provide valuable information on the RNASEH2B gene, its associated genetic changes, and the phenotypes and conditions related to it. They are useful for scientific research, genetic testing, and understanding the complex system of diseases associated with this gene.