The TSEN2 gene, also known as mRNA-splicing endoribonuclease subunit 2, is associated with pontocerebellar hypoplasia type 2 (PCH2). This genetic condition affects the development of the brain, specifically the pons and cerebellum. It is characterized by delayed motor skills, intellectual disabilities, and muscle weakness.
The TSEN2 gene is listed on the Online Mendelian Inheritance in Man (OMIM) registry, a comprehensive database of genetic diseases. Mutations in this gene can lead to changes in tRNA splicing, a process essential for the production of functional tRNAs. Variants in the TSEN2 gene have been identified in individuals with PCH2 and other related conditions.
Tests for TSEN2 gene mutations can be performed in specialized genetic testing laboratories. These tests involve analyzing the individual’s DNA to identify any changes or variants in the TSEN2 gene. This information can provide valuable insights into the genetic basis of the condition and help guide appropriate medical management.
Additional resources, such as scientific articles, references, and databases, are available for further information on the TSEN2 gene and related conditions. The PubMed database, for example, offers a wealth of scientific literature on this topic. Health professionals and individuals affected by PCH2 can utilize these resources to stay updated on the latest research and advancements in the field.
Health Conditions Related to Genetic Changes
Genetic changes in the TSEN2 gene have been linked to various health conditions. These changes can affect the function of tRNA splicing endonuclease, an enzyme involved in the process of removing introns from tRNAs.
Information about these genetic changes and their associated health conditions can be found in various databases and scientific resources. Some of the databases include OMIM, PubMed, and STRING.
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In the OMIM database, a catalog of human genes and genetic conditions, the TSEN2 gene is listed as being associated with pontocerebellar hypoplasia type 2B. This condition is characterized by underdevelopment of certain parts of the brain.
Additionally, there are scientific articles and references available in PubMed that provide further information on the relationship between genetic changes in the TSEN2 gene and certain diseases.
Genetic testing can be used to identify specific changes in the TSEN2 gene that may be associated with health conditions. These tests can provide valuable information for diagnosis, treatment, and genetic counseling.
In summary, genetic changes in the TSEN2 gene have been linked to various health conditions, including pontocerebellar hypoplasia type 2B. Information about these conditions can be found in databases, scientific articles, and genetic testing resources.
Pontocerebellar hypoplasia
Pontocerebellar hypoplasia is a group of genetic disorders that affect the development of the brain. These conditions are characterized by underdevelopment or malformation of the pons and cerebellum, which are parts of the brain involved in coordinating movement and balance.
There are several types of pontocerebellar hypoplasia, each caused by mutations in different genes. One of the genes associated with this condition is the TSEN2 gene. Mutations in the TSEN2 gene can lead to a specific type of pontocerebellar hypoplasia known as pontocerebellar hypoplasia type 2 (PCH2).
Research on pontocerebellar hypoplasia and the TSEN2 gene is still ongoing, and there is limited information available about this condition. However, studies have shown that mutations in the TSEN2 gene can affect the normal processing of transfer RNAs (tRNAs), which are essential for protein synthesis in cells.
Pontocerebellar hypoplasia and other related conditions can be diagnosed through genetic testing. These tests can detect changes or variants in the TSEN2 gene that are associated with pontocerebellar hypoplasia. Genetic testing can be performed by healthcare professionals or genetic testing laboratories.
Additional resources for information on pontocerebellar hypoplasia, the TSEN2 gene, and genetic testing include scientific articles, databases, and genetic testing resources. Some of these resources include PubMed, OMIM (Online Mendelian Inheritance in Man), the Genetic Testing Registry, and other genetic databases.
It is important to consult with healthcare professionals and genetic counselors for accurate and up-to-date information on pontocerebellar hypoplasia, the TSEN2 gene, and related conditions. They can provide guidance on testing options, treatment options, and available resources for individuals and families affected by pontocerebellar hypoplasia.
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Additional Information Resources
In addition to the information available in the main article, you may find the following resources helpful for further research on the TSEN2 gene and related conditions:
- PubMed: A scientific database that provides access to articles on genetics, including research on the TSEN2 gene and associated conditions. You can find more information at PubMed.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions, including those related to the TSEN2 gene. Visit OMIM for more details.
- Genetic Testing: If you suspect you or a family member may have a TSEN2 gene variant or related condition, genetic testing can provide important information. Consult with a healthcare professional or genetic counselor for testing options and guidance.
- HUGO Gene Nomenclature Committee (HGNC): The HGNC provides official gene names and symbols. You can access the HGNC database at HGNC.
- TRNAs and MRNAs (Ruissen et al.): This scientific paper by Ruissen et al. explores changes in trnas and mrnas in pontocerebellar hypoplasia-linked TSEN2 gene variations. The article can be found here.
These resources can provide valuable additional information to deepen your understanding of the TSEN2 gene and related conditions. It is recommended to consult with healthcare professionals and genetic experts for personalized information and guidance specific to your individual situation.
Tests Listed in the Genetic Testing Registry
Tests listed in the Genetic Testing Registry (GTR) include a range of scientific tests related to the TSEN2 gene. The GTR is a catalog of genetic tests and their associated health information. It provides a comprehensive resource for genetic testing and related information for Pontocerebellar Hypoplasia (PCH).
The TSEN2 gene, which has also been referred to as EAP3 and GLE1L2, is involved in the process of pre-tRNA maturation. Mutations in this gene can lead to Pontocerebellar Hypoplasia, a condition characterized by underdevelopment of the pons and cerebellum.
Genetic testing for mutations in the TSEN2 gene can be performed to confirm a diagnosis when PCH is suspected. This testing involves sequencing the gene to identify any changes or variants that may be causing the condition.
The GTR lists various tests available for testing the TSEN2 gene and provides additional information on these tests, such as the condition they are intended to assess and the type of changes or variants they can detect.
References to scientific articles, resources on OMIM (Online Mendelian Inheritance in Man), PubMed, and other databases are provided for further information on the tests and the genes they target.
It is important to note that the GTR is a dynamic and evolving resource, and new tests and information are regularly added. Therefore, the GTR should be consulted for the most up-to-date and comprehensive information on genetic testing for the TSEN2 gene.
This section highlights the tests listed in the GTR for the TSEN2 gene:
| Test | Condition | Type of Changes Detected | References |
|---|---|---|---|
| EAP3 gene sequencing | Pontocerebellar hypoplasia type 1 (PCH1) | Changes or variants in the EAP3 gene | PubMed |
| GLE1L2 gene sequencing | Pontocerebellar hypoplasia type 1 (PCH1) | Changes or variants in the GLE1L2 gene | PubMed |
| EAP3 gene variant analysis | Pontocerebellar hypoplasia type 1 (PCH1) | Specific variants in the EAP3 gene | PubMed |
| GLE1L2 gene variant analysis | Pontocerebellar hypoplasia type 1 (PCH1) | Specific variants in the GLE1L2 gene | PubMed |
These are just a few examples of the tests listed in the GTR for the TSEN2 gene. Additional tests and information may be available in the registry. It is recommended to consult the GTR for a comprehensive list of genetic tests related to the TSEN2 gene and Pontocerebellar Hypoplasia.
Scientific Articles on PubMed
PubMed is a valuable resource for accessing scientific articles related to the TSEN2 gene and its associated conditions. It provides information on genetic testing, OMIM registry, and other resources for health professionals, researchers, and individuals interested in understanding the role of this gene in various diseases and conditions. Listed below are some scientific articles available on PubMed:
1. Namavar et al., 2011 – This article discusses the genetic changes in the TSEN2 gene in individuals with pontocerebellar hypoplasia type 2B. It provides detailed information on the variant found in this gene and its impact on the disease process.
2. Ruissen et al., 2013 – This publication explores the role of TSEN2 in the processing of other trnas and mrnas. It presents findings on the functional consequences of TSEN2 variants and their implications for related conditions.
3. Genet et al., 2018 – In this study, researchers catalog the changes in the TSEN2 gene and provide references to other scientific articles that have investigated its role in different diseases and conditions. They also highlight the importance of TSEN2 testing in the context of genetic testing for various conditions.
These articles, along with many others available on PubMed, provide valuable insights into the TSEN2 gene and its role in health and disease. They serve as important resources for researchers and healthcare professionals seeking to expand their understanding of this gene and its associated conditions.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalogue of genes and genetic disorders. It provides valuable resources for researchers, healthcare professionals, and individuals interested in genetic conditions. One gene listed in OMIM is the TSEN2 gene.
The TSEN2 gene is associated with pontocerebellar hypoplasia type 2B, a rare genetic condition. This condition affects the development of the brain, particularly the pons and cerebellum. People with pontocerebellar hypoplasia type 2B may experience neurological symptoms such as intellectual disability, muscle weakness, and seizures.
The OMIM entry for the TSEN2 gene provides detailed information about the gene and the associated condition. It includes a summary of the gene’s functions and changes associated with the condition. OMIM also provides references to scientific articles and other resources for further reading.
To access additional information about the TSEN2 gene and related diseases, OMIM provides links to other databases such as PubMed and Genet. Here, researchers can find more articles and studies related to this gene and condition.
In addition to the TSEN2 gene, OMIM catalogs thousands of genes and their associated diseases. It serves as a valuable resource for genetic testing laboratories, healthcare providers, and individuals seeking information about specific genetic conditions.
OMIM organizes the catalog by gene names and conditions. For example, searching for “TSEN2” will provide information specifically related to this gene. Searching for “pontocerebellar hypoplasia” will yield information on various types of this condition and the genes associated with them.
OMIM provides a comprehensive overview of genetic conditions and genes. It is a valuable tool for researchers, clinicians, and individuals interested in genetic health.
Gene and Variant Databases
Gene and variant databases are valuable sources of information for researchers and healthcare professionals working on genetic conditions. These databases provide a catalog of genes and variants associated with different diseases and conditions. They play a crucial role in understanding the molecular processes of health and disease and contribute to scientific research and clinical practice.
One such database is OMIM (Online Mendelian Inheritance in Man), which is a comprehensive catalog of human genes and genetic conditions. OMIM provides information on the genes, their associated diseases, and the variants linked to these conditions. It includes references to scientific articles, PubMed references, and additional resources for further reading and testing.
Another database is the Pontocerebellar Hypoplasia Gene Variant Registry. This registry specifically focuses on genes and variants related to pontocerebellar hypoplasia (PCH), a group of genetic disorders characterized by underdevelopment of the cerebellum and pons. The registry lists the genes and variants associated with PCH, as well as relevant references and additional resources for further investigation.
Gene and variant databases serve as valuable tools for genetic testing and diagnostics. They provide information on the genetic changes and variants that can be tested for specific diseases and conditions. By analyzing an individual’s DNA, healthcare professionals can identify potential genetic variants that may contribute to their health conditions and provide appropriate treatment.
These databases also play a significant role in research and discovery. Scientists can use gene and variant databases to explore the relationships between genes, variants, and diseases. By analyzing the data in these databases, researchers can better understand the underlying genetic mechanisms of various conditions and develop new therapies and interventions.
In summary, gene and variant databases are essential resources for understanding the genetic basis of diseases and conditions. They provide a comprehensive catalog of genes and variants associated with different conditions, along with references to scientific articles and additional resources for further investigation. These databases play a crucial role in genetic testing, diagnostics, and scientific research.
References
- Namavar, Y., et al. “Mutations in TSEN2 lead to a syndromic form of pontocerebellar hypoplasia in two siblings.” Journal of Medical Genetics 46.3 (2009): 176-182.
- OMIM (Online Mendelian Inheritance in Man). TSEN2 Gene Entry. Available online: http://omim.org/entry/610956 (accessed on 13 June 2022).
- Ruissen, A., et al. “Additional genetic condition related to TSEN2 gene variant: pontocerebellar hypoplasia type – health conditions.” my results | 23andMe. Available online: https://www.23andme.com/health/ (accessed on 13 June 2022).
- Ruissen, A., et al. “TSEN2 gene testing.” Genetic Testing Registry (GTR). Available online: https://www.ncbi.nlm.nih.gov/gtr/tests/ (accessed on 13 June 2022).