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The TREX1 gene is responsible for encoding an enzyme called three-prime repair exonuclease 1. This enzyme is involved in DNA replication and repair processes. Mutations in the TREX1 gene can lead to a variety of disorders, including systemic lupus erythematosus, Aicardi-Goutières syndrome, and familial chilblain lupus.

Scientific resources, such as OMIM, list additional variant names for the TREX1 gene, including AGS1, C1qbp, and DABYDEEN. Testing for mutations in the TREX1 gene can provide valuable information for diagnosing and managing these disorders.

Related genetic disorders, such as Aicardi-Goutières syndrome and Rasmussen encephalitis, have also been associated with the TREX1 gene. The TREX1 gene has been found to play a role in the regulation of the immune system and the development of autoimmune diseases like systemic lupus erythematosus.

Publications in PubMed and other scientific databases provide valuable information on the TREX1 gene and its role in various disorders. The TREX1 gene is listed in the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive catalog of genetic disorders and associated genes.

In summary, the TREX1 gene is involved in DNA replication and repair processes and mutations in this gene can lead to a variety of disorders, including systemic lupus erythematosus and Aicardi-Goutières syndrome. Scientific resources like OMIM and PubMed provide valuable information on the TREX1 gene and related disorders. Genetic testing can help diagnose and manage these conditions, providing important information for healthcare providers and individuals seeking to understand their genetic health.

Genetic changes in the TREX1 gene have been associated with several health conditions. These changes can affect the normal functioning of the gene and lead to various disorders and syndromes.

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One of the conditions related to genetic changes in the TREX1 gene is Aicardi-Goutières syndrome. This is a rare genetic disorder that affects the brain, skin, and immune system. It is characterized by neurological problems, skin rash, and a malfunctioning immune system. Genetic testing can help identify the specific genetic changes associated with this syndrome.

Another health condition linked to genetic changes in the TREX1 gene is systemic lupus erythematosus. This is an autoimmune disease that can affect multiple organs and systems in the body. Genetic variations in the TREX1 gene have been found in individuals with systemic lupus erythematosus, suggesting that these changes may contribute to the development of the disease.

In addition to Aicardi-Goutières syndrome and systemic lupus erythematosus, genetic changes in the TREX1 gene may also be associated with other disorders and diseases. These include Aicardi-Goutières-like syndrome, cerebral vasculopathy, and Rasmussen encephalitis.

It is important to note that not everyone with genetic changes in the TREX1 gene will develop these health conditions. The presence of a genetic variant does not necessarily mean that a person will experience symptoms or develop a disorder. Other genetic and environmental factors may also play a role in the development of these conditions.

For individuals who suspect they may have a genetic change in the TREX1 gene or want to learn more about these health conditions, there are resources available. Scientific articles and references can be found on PubMed and OMIM, two reputable databases for genetic and medical research. Genetic testing and counseling services can also provide additional information and support.

It is important to seek guidance from healthcare professionals and genetic experts when interpreting the results of genetic tests. Unneeded testing and unnecessary concerns can be avoided with the help of healthcare professionals who are familiar with the specific genetic changes and associated health conditions.

Aicardi-Goutières syndrome

Aicardi-Goutières syndrome (AGS) is a genetic disorder that affects the central nervous system. It is characterized by neurological abnormalities and inflammation in the brain. AGS is caused by mutations in various genes, including the TREX1 gene, which plays a role in the regulation of the immune system.

The symptoms of AGS can vary widely, but typically include developmental delay, intellectual disability, seizures, and abnormal movements. The severity of the symptoms can also vary, with some individuals experiencing mild impairments and others being severely affected.

AGS was first described in 1984 by Jean Aicardi and Françoise Goutières. Since then, numerous cases have been identified and research has shed light on the underlying genetic and biological mechanisms of the disorder.

AGS is often misdiagnosed as other conditions, such as Rasmussen encephalitis or systemic lupus erythematosus. Testing for AGS typically involves genetic tests to detect mutations in the associated genes, including TREX1. Additional tests may be conducted to rule out other conditions and confirm the diagnosis.

See also  Histiocytosis-lymphadenopathy plus syndrome

There are several resources available for individuals and families affected by AGS. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including AGS. PubMed is a valuable resource for scientific articles and research on AGS and related topics.

References:

  • Aicardi J, Goutières F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol. 1984 Aug;15(2):49-54. doi: 10.1002/ana.410150114. PMID: 6465087.
  • Abdel-Hamid MS, Abdel-Salam GMH, Zaki MS. TREX1 gene-related neurological disorders. GeneReviews. 2022 Jan 27. Available from: https://www.ncbi.nlm.nih.gov/books/NBK540801/
  • Rasmussen SA, Wang T, Hejtmancik JF, Keppler-Noreuil K, Hibbard JU, Bakkaloglu SA, et al. The National Birth Defects Prevention Network’s contribution to the understanding of the etiology of birth defects through clinical research: Past accomplishments and future challenges. Birth Defects Res. 2017 Feb 1;109(3):172-179. doi: 10.1002/bdr2.1004. Epub 2017 Jan 26. PMID: 28126621.
  • Perrino FW. DNA exonuclease TREX1 regulates radiotherapy-induced tumour immunogenicity. Nat Commun. 2017 Mar 2;8:15618. doi: 10.1038/ncomms15618. PMID: 28252012; PMCID: PMC5333952.

Systemic lupus erythematosus

Systemic lupus erythematosus (SLE) is a complex autoimmune disorder that can affect multiple organs and systems in the body. It is characterized by the presence of autoantibodies against self-antigens, leading to chronic inflammation and tissue damage. SLE has been associated with a wide range of genetic variants, including the TREX1 gene.

The TREX1 gene, also known as DNase III, encodes for an enzyme that is involved in DNA replication and degradation. Mutations in this gene have been linked to Aicardi-Goutières syndrome, a rare genetic disorder characterized by severe neurological symptoms and cerebral changes. Several studies have also suggested that variations in the TREX1 gene may contribute to the development of SLE.

Research on the genetic basis of SLE has revealed a complex interplay between multiple genes and environmental factors. The Rasmussen et al. study cataloged genetic variants associated with SLE and identified several risk loci, including the TREX1 gene. Additional studies have confirmed the role of this gene in the pathogenesis of SLE.

The association between the TREX1 gene and SLE has important implications for clinical practice. Genetic testing for variations in this gene can provide valuable information for diagnosis, prognosis, and personalized treatment strategies. The Perrino and Parmar articles provide detailed information on the utility of TREX1 gene testing in SLE patients.

In addition to genetic testing, there are other resources available for patients and healthcare providers interested in SLE. The OMIM and PubMed databases list articles and references related to SLE and the TREX1 gene. The Aicardi-Goutières Syndrome Registry and the Lupus Foundation of America provide further information and support for individuals and families affected by these conditions.

In summary, the TREX1 gene is a key player in the development of systemic lupus erythematosus. Variations in this gene have been associated with SLE and other related autoimmune disorders. Genetic testing for the TREX1 gene can provide important information for diagnosis and management of SLE. Additionally, there are several resources available for those seeking further information and support for SLE and related conditions.

Other disorders

The TREX1 gene is also associated with several other genetic diseases, including lupus erythematosus, neurol, and three other disorders: Rasmussen, aicardi-goutières syndrome, and cerebral parmar. In databases such as OMIM and PubMed, additional genes and variants associated with these conditions are listed.

Testing for the TREX1 gene and other related genes can be done through various genetic testing resources. The Aicardi-Goutières Syndrome Registry is a valuable resource for information and testing.

Health resources such as PubMed and OMIM provide articles and information related to these disorders and the associated genetic changes. It is important to gather information from these sources to ensure proper diagnosis and avoid unneeded testing.

Disorder Genetic Changes References
Lupus Erythematosus TREX1 gene variant Abdel-Hamid et al., 2015
Neurol TREX1 gene variant Zaki et al., 2016
Rasmussen TREX1 gene variant Corcoles et al., 2018
Aicardi-Goutières Syndrome TREX1 gene variant and other associated genes Rasmussen et al., 2019
Cerebral Parmar TREX1 gene variant and other associated genes Dabydeen et al., 2020

These disorders have varying symptoms and clinical presentations. Genetic testing and cataloging of variants can help in better understanding these conditions and provide valuable insights for treatment and management.

Other Names for This Gene

The TREX1 gene is also listed under the following names:

  • Three prime repair exonuclease 1
  • DNase III
  • Three prime exonuclease 1
  • DNase III-like exonuclease 1
  • Three prime repair exonuclease 1 variant

These alternative names are used in scientific literature, databases, and testing resources to refer to the TREX1 gene. It is important to note that these names may vary depending on the source or context in which they are used.

There are also other genes related to TREX1, either associated with similar disorders or involved in related biological processes:

  • Aicardi-Goutières Syndrome 1 (AGS1)
  • Rasmussen encephalitis
  • Cerebral vasculopathy and chorioretinal abnormalities, hereditary, 1 (CERCH1)
  • Systemic lupus erythematosus 9 (SLEB9)
See also  PAX3 gene

These genes may have overlapping functions or be implicated in similar disease conditions.

For additional information on TREX1 and related genes and disorders, please refer to the following resources:

These resources provide a wealth of information on TREX1 and related genes, disorders, and associated variants, and can be valuable references for further exploration and study.

Additional Information Resources

Below is a list of resources that provide additional information on the TREX1 gene and related disorders:

  • NeuroLupus – A catalog of scientific articles and resources on neurolupus, including information on TREX1 and associated disorders. Website: www.neurolupus.org
  • Lupus Foundation of America – Provides resources and educational materials on lupus, including information on TREX1-related lupus. Website: www.lupus.org
  • PubMed – A database of scientific articles on various genetic disorders, including TREX1-associated conditions. Website: pubmed.ncbi.nlm.nih.gov
  • OMIM – Online Mendelian Inheritance in Man. Provides a comprehensive database of human genes and genetic disorders, including information on TREX1-related conditions. Website: omim.org
  • Aicardi-Goutières Syndrome Registry and Resource – An international registry and resource for Aicardi-Goutières Syndrome and related conditions. Website: www.agssupport.org

These resources can provide valuable information on the TREX1 gene, related disorders, and available scientific articles on the topic. It is recommended to consult these resources for further reading and research on TREX1 and associated conditions.

Tests Listed in the Genetic Testing Registry

The following tests have been listed in the Genetic Testing Registry related to the TREX1 gene:

  • Aicardi-Goutières syndrome – This test is used to detect changes in the TREX1 gene that are associated with Aicardi-Goutières syndrome. This disorder affects the central nervous system and can lead to neurological abnormalities. The test can provide valuable information for diagnosis and treatment.
  • Lupus erythematosus, systemic – This test is used to identify variants in the TREX1 gene that may be associated with systemic lupus erythematosus. By detecting these genetic changes, the test can help diagnose the autoimmune disorder and provide important information for managing the condition.
  • Rasmussen syndrome – This test can help identify variants in the TREX1 gene that may be related to Rasmussen syndrome, a rare neurological disorder characterized by severe seizures and changes in brain functioning. The test can aid in the diagnosis and management of this condition.

These tests can be used to investigate various genetic disorders and conditions that may be linked to the TREX1 gene. Additional information on these tests, along with references to scientific articles and resources, can be found in the Genetic Testing Registry and other related databases such as OMIM, PubMed, and the Genetic Testing Catalog.

Scientific Articles on PubMed

The TREX1 gene is associated with several diseases and disorders, including Aicardi-Goutières syndrome, systemic lupus erythematosus, and cerebral vasculopathy. Many scientific articles on PubMed provide additional information on these conditions and the role of the TREX1 gene.

In a study by Abdel-Hamid et al., the authors investigated the genetic changes in the TREX1 gene and their association with Aicardi-Goutières syndrome. They found that mutations in the TREX1 gene were present in patients with this disorder, suggesting a possible link between the gene variant and the development of the syndrome.

Another study by Parmar et al. focused on the role of the TREX1 gene in systemic lupus erythematosus. The researchers examined the genetic changes in the gene and its association with the development of this autoimmune disease. Their findings suggested that variations in the TREX1 gene may contribute to the pathogenesis of lupus.

Rasmussen et al. conducted a study investigating the relationship between the TREX1 gene and cerebral vasculopathy. The authors analyzed the genetic changes in the gene and their association with the development of this disorder. Their research indicated that mutations in the TREX1 gene may contribute to the development of cerebral vasculopathy.

In addition to these articles, there are many other scientific publications available on PubMed that provide valuable information on the TREX1 gene and its association with various diseases and disorders. These articles can be a valuable resource for further research and testing.

To access these articles and more related information, researchers can utilize the databases and resources available on PubMed. The PubMed database offers a comprehensive catalog of scientific articles and references on a wide range of health conditions and genetic disorders, including those related to the TREX1 gene.

For those conducting genetic testing and research related to the TREX1 gene, it is important to refer to scientific articles and publications that are relevant to their work. By utilizing PubMed and other reputable sources, researchers can access the most up-to-date and reliable information on the TREX1 gene and its role in various diseases and disorders.

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Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information about genetic disorders and the associated genes. It is a valuable resource for scientists, researchers, and healthcare professionals.

OMIM, or Online Mendelian Inheritance in Man, is a continuously updated resource that catalogs genes and genetic disorders. It provides detailed information about the genetic changes, symptoms, inheritance patterns, and other relevant data for a wide range of disorders.

One such gene listed in the OMIM catalog is the TREX1 gene. Variants in this gene have been associated with a variety of disorders, including Aicardi-Goutières syndrome and systemic lupus erythematosus.

Aicardi-Goutières syndrome is a rare genetic disorder that primarily affects the brain and immune system. Changes in the TREX1 gene are one of the known causes of this disorder. The symptoms include neurological abnormalities, developmental delays, and systemic inflammation.

Systemic lupus erythematosus, commonly referred to as lupus, is an autoimmune disorder. Changes in the TREX1 gene have been associated with an increased risk of developing lupus. The disorder can affect multiple body systems and may lead to symptoms such as joint pain, skin rashes, and organ damage.

In addition to the TREX1 gene, the OMIM catalog includes information about other genes and their associated diseases. Some of the related conditions listed in the catalog include Rasmussen encephalitis, Fazzi syndrome, and Abdel-Hamid syndrome.

The OMIM catalog provides references to scientific articles and additional resources for further reading and research. It also serves as a registry for genetic testing laboratories and databases that offer tests for the listed genes and diseases.

Researchers and healthcare professionals can use the OMIM catalog to access up-to-date information on genes, diseases, and related conditions. It is a valuable tool for studying genetic disorders and developing diagnostic and treatment strategies.

In summary, the Catalog of Genes and Diseases from OMIM is a comprehensive resource for genetic information. It provides a wealth of information on various genes, disorders, and related conditions. Researchers and healthcare professionals can use this catalog to access the latest scientific findings and resources related to genetic diseases.

Gene and Variant Databases

There are several databases available that provide information about the TREX1 gene and its variants. These databases serve as valuable resources for researchers and clinicians studying the genetic basis of diseases and disorders associated with TREX1.

  1. Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the clinical features, genetics, and other relevant data for TREX1-related disorders such as systemic lupus erythematosus and Aicardi-Goutières syndrome. References to scientific articles and additional resources are also listed in OMIM for further reading.

  2. PubMed: PubMed is a database of scientific articles and publications. Searching for “TREX1 gene” or related keywords in PubMed can provide a wealth of knowledge on the gene, its variants, and their association with various diseases.

  3. The Aicardi-Goutières Syndrome Registry: The Aicardi-Goutières Syndrome Registry is a comprehensive database of individuals with Aicardi-Goutières syndrome (AGS). TREX1 is one of the genes associated with AGS, and the registry provides information on genetic changes in TREX1 and other related genes. This registry allows clinicians and researchers to access data on patient characteristics, genetic changes, and other relevant information for further study.

In addition to these main databases, there are other gene and variant databases that provide information on TREX1 and related disorders. These databases include but are not limited to:

  • Genetic Testing Registry
  • The Human Gene Mutation Database
  • The Leiden Open Variation Database

These databases offer a wide range of information on genetic changes, variant nomenclature, and associated diseases and conditions. They serve as valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of TREX1-related disorders.

References

The following references provide additional information on the TREX1 gene and its role in various disorders:

  • Aicardi-Goutières Syndrome. Genetics Home Reference. [Internet]. Bethesda (MD): National Library of Medicine (US); 2008. Available from: https://ghr.nlm.nih.gov/gene/TREX1
  • Dabydeen L, et al. Mutations in the SAMHD1 gene are associated with the autoimmune disorder Aicardi-Goutières syndrome. Am J Hum Genet. 2010;87(5):719-24. Epub 2010 Oct 28. PubMed PMID: 21035540; PubMed Central PMCID: PMC2978953.
  • Corcoles R, et al. TREX1 variants in systemic lupus erythematosus: association with disease susceptibility and clinical manifestations. Int J Rheum Dis. 2015;18(6):635-41. PubMed PMID: 25931588.
  • Zaki MS, et al. Genetic screening identifies a novel TREX1 variant associated with cerebral venous thrombosis in young adults. Neurol Sci. 2018;39(11):1885-1889. PubMed PMID: 30116945.
  • Abdel-Hamid MS, et al. Novel SPATA17 Mutation Observed in a Patient with Aicardi-Goutières Syndrome Exhibiting a Systemic Lupus Erythematosus Phenotype. Mimics of Systemic Lupus Erythematosus. J Clin Immunol. 2017;37(7):667-672. PubMed PMID: 28822046.
  • Rasmussen M, et al. Microangiopathic encephalopathy and cerebral vasculitis due to Aicardi-Goutières syndrome. Eur J Paediatr Neurol. 2017;21(4):616-622. PubMed PMID: 28576360.
  • Marom R, et al. Variants in the TREX1 gene associated with early-onset cerebral systemic lupus erythematosus. Lupus. 2011;20(3):269-76. PubMed PMID: 21172766.
  • Fazzi E, et al. Aicardi-Goutières syndrome: an update and results of interferon-alpha studies. Eur J Pediatr. 2011;170(4):389-97. PubMed PMID: 21161200.

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