The TSEN54 gene is responsible for encoding a subunit of the tRNA splicing endonuclease, which is involved in the process of removing introns from transfer RNA (tRNA) precursors. This gene has been found to be associated with various diseases, including pontocerebellar hypoplasia.

Changes or mutations in the TSEN54 gene can lead to the production of an abnormal protein or a loss of function, which in turn affects the splicing of tRNA precursors. Most of the mutations identified in this gene have been found in patients with pontocerebellar hypoplasia, a condition characterized by underdevelopment of the brain structures called the pons and cerebellum.

Additional information about the TSEN54 gene can be found in various scientific databases, such as OMIM, PubMed, and GenBank. These resources provide information on the genetic function of the gene, associated diseases and conditions, testing methods, and related articles. The TSEN54 gene is listed in the OMIM catalog with the entry number 609450.

Testing for mutations in the TSEN54 gene can be performed to confirm a diagnosis of pontocerebellar hypoplasia or to assess the risk of passing on the condition to future generations. Genetic testing can also provide valuable information for healthcare professionals and affected individuals about potential treatment options and disease management strategies.

In conclusion, the TSEN54 gene plays a crucial role in the process of tRNA splicing and has been implicated in the development of pontocerebellar hypoplasia. Understanding the function and mutations in this gene can provide important insights into the genetic basis of this condition and may lead to the development of targeted therapies and interventions.

Health Conditions Related to Genetic Changes

Genetic changes in the TSEN54 gene have been associated with various health conditions. These changes can affect the function of this gene and lead to the development of different diseases.

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One of the common diseases related to TSEN54 gene changes is pontocerebellar hypoplasia type 2. This condition is characterized by underdevelopment (hypoplasia) of the pons and cerebellum, which are parts of the brain involved in the coordination of movements.

Genetic testing for changes in the TSEN54 gene can help diagnose pontocerebellar hypoplasia type 2. This testing can detect mutations or variants in the gene that may be responsible for the disease.

Additional resources for information on health conditions related to genetic changes in the TSEN54 gene can be found in scientific articles, databases, and registries. The Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other genetic databases provide references to articles and information on these diseases.

Health conditions related to genetic changes in the TSEN54 gene can also be categorized into different types based on the specific changes in the gene. These types can include changes in the function of the TSEN54 gene, changes in the process of tRNA splicing or the number of tRNA copies, and changes in other genes involved in the same biological pathway or function.

In the scientific literature, these health conditions related to genetic changes in the TSEN54 gene may be referred to by different names. Some examples include namavar syndrome, pontocerebellar hypoplasia type 2, and 2q23.3 microdeletion syndrome. These names may vary depending on the specific features or characteristics of the disease.

References:

• Ruissen MH, et al. Mutation in TSEN54 causes a syndromic form of pontocerebellar hypoplasia with anterior horn sclerosis. J Med Genet. 2010;47(10):656-61. PubMed PMID: 20844262.
• Namavar Y, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011;134(Pt 1):143-56. PubMed PMID: 21138942.
• Genet A, et al. Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome. Hum Mutat. 2016;37(8):847-57. PubMed PMID: 27241192.

Pontocerebellar hypoplasia

Pontocerebellar hypoplasia is a rare genetic condition characterized by underdevelopment of the pons and cerebellum, two important parts of the brain. It is associated with mutations in the TSEN54 gene.

The TSEN54 gene provides instructions for making a protein that is part of a complex involved in a process called nonsense-mediated mRNA decay. This process helps ensure that only high-quality proteins are produced in cells. Mutations in the TSEN54 gene impair the function of this complex, leading to the accumulation of abnormal proteins and the death of cells in the pons and cerebellum.

The symptoms of pontocerebellar hypoplasia vary depending on the specific genetic variant and other factors. Some common features include developmental delay, low muscle tone, problems with movement and coordination, difficulty with swallowing, and intellectual disability.

Genetic testing can confirm a diagnosis of pontocerebellar hypoplasia. Testing may identify mutations in the TSEN54 gene or other related genes. Testing may involve sequencing the gene to look for changes in the DNA code or analyzing the gene for changes in its function.

There are several resources available for additional information on pontocerebellar hypoplasia and related conditions. The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genes and genetic conditions, including detailed information on the TSEN54 gene and pontocerebellar hypoplasia.

The PubMed database allows you to search for scientific articles and publications on pontocerebellar hypoplasia. These articles may provide insights into the latest research and treatment options for the condition.

The Genetic Testing Registry offers information on genetic tests available for pontocerebellar hypoplasia. This resource includes a list of laboratories that offer testing, the types of tests they perform, and contact information for each laboratory.

In summary, pontocerebellar hypoplasia is a rare genetic condition caused by mutations in the TSEN54 gene. These mutations affect the function of the gene and lead to underdevelopment of the pons and cerebellum. Genetic testing is available to confirm a diagnosis, and there are several resources available for additional information and support for individuals with this condition.

Other Names for This Gene

The TSEN54 gene, also known as Genet, is involved in various cellular processes related to the proper functioning of the body. Mutations or changes in this gene can lead to health conditions such as pontocerebellar hypoplasia.

Common names for the TSEN54 gene include:

• Genet
• TSEN2
• TSEN34
• Genes, TSEN

Tests and genetic testing for this gene can be found in various scientific databases and resources, including PubMed, OMIM, and the Catalog of Genes and Genetic Testing Conditions. Additional information and references can also be found in articles and publications related to this gene.

Some related genes and conditions that are listed in these databases include TSEN2, TSEN34, pontocerebellar hypoplasia, and changes in tRNA genes.

The TSEN54 gene plays an important role in the proper processing of tRNAs, which are essential for protein synthesis. Mutations or variants in this gene can lead to disruptions in this process, resulting in various health conditions and disorders.

Overall, the TSEN54 gene and its associated variants are of significant interest in the scientific community, with ongoing research and advancements in understanding its function and impact on human health.

Additional Information Resources

There are several additional resources available for gathering information on the TSEN54 gene, related genetic conditions, and testing processes.

• OMIM (Online Mendelian Inheritance in Man): OMIM provides a comprehensive catalog of genes and genetic conditions. It also contains references to scientific articles and other resources related to the TSEN54 gene.
• Genetics Home Reference: Genetics Home Reference is a valuable resource for understanding the function of genes, genetic conditions, and the impact of genetic changes on health. It provides comprehensive information on the TSEN54 gene and related conditions such as pontocerebellar hypoplasia.
• TRANGENE: TRANGENE is a database that catalogs tRNA genes and their variants. It provides information on the different types of tRNAs and their functions, including those associated with the TSEN54 gene.
• The Human Gene Mutation Database (HGMD): HGMD is a repository of genetic variations associated with different diseases. It includes information on mutations in the TSEN54 gene and their impact on health.
• PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information on the TSEN54 gene, its function, related diseases, and the latest research findings.
• TSEN54 Variant Database: The TSEN54 Variant Database is a specialized resource dedicated to collecting and curating information on TSEN54 gene mutations and their clinical implications. It is a valuable tool for researchers and clinicians involved in genetic testing.

These additional resources can provide more in-depth information on the TSEN54 gene, related genetic conditions, and the testing process.

Tests Listed in the Genetic Testing Registry

The TSEN54 gene is associated with a variety of conditions, including pontocerebellar hypoplasia, a group of genetic disorders characterized by underdevelopment of the cerebellum. Genetic testing can help identify the specific changes in the TSEN54 gene that are responsible for these conditions.

In the Genetic Testing Registry, the TSEN54 gene is listed under various names, including TSEN54 subunit of the tRNA splicing endonuclease complex, TSEN54cell division cycle 7 homolog A, and trna splicing endonuclease subunit 54.

The most common type of test listed for the TSEN54 gene is DNA sequencing, which can identify mutations or changes in the gene that can lead to disease. Other tests listed in the registry include copy number analysis, which looks for changes in the number of copies of the gene, and functional analysis, which assesses the gene’s function.

References to scientific articles and resources such as PubMed, OMIM, and GeneReviews are also listed in the registry. These resources provide additional information on the TSEN54 gene and related diseases.

Testing for mutations in the TSEN54 gene can provide important scientific and health information. By identifying specific changes in the gene, healthcare professionals can better understand the underlying causes of diseases and develop targeted treatments.

Scientific Articles on PubMed

Here are some scientific articles related to the TSEN54 gene:

• Publication Title: Epub:hypoplasia of the pons and cerebellum: a review(PMID: 26990543)

  Summary: This article discusses the pontocerebellar hypoplasia type 4 (PCH4) caused by mutations in the TSEN54 gene. It provides information on the clinical manifestations and genetic changes associated with this condition. The article also highlights the importance of genetic testing for accurate diagnosis and management of patients with PCH4.

• Publication Title: Genet Med: The clinical spectrum of pontocerebellar hypoplasia type 5 naloxibolährungen caused by mutations in the tRNA splicing endonuclease subunit 54 (PMID: 33051566)

  Summary: This article describes the clinical features and genetic changes associated with pontocerebellar hypoplasia type 5 (PCH5) caused by mutations in the TSEN54 gene. It discusses the role of the TSEN54 gene in the tRNA splicing process and its impact on the development of the brain. The article also highlights the importance of early diagnosis and appropriate management of patients with PCH5.

• Publication Title: Genet Med: Mutations in TSEN54 leads to pontocerebellar hypoplasia type 4 and are associated with structural perturbations in the RNA splicing endonuclease subunit (PMID: 21448240)

  Summary: This article explores the structural changes in the RNA splicing endonuclease subunit caused by mutations in the TSEN54 gene. It provides insights into the pathogenic mechanisms underlying pontocerebellar hypoplasia type 4 (PCH4) and emphasizes the importance of studying the functional consequences of genetic variants in this gene.

• Publication Title: OMIM: TSEN54 gene entry(OMIM: 611546)

  Summary: This article from the Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive overview of the TSEN54 gene. It lists the associated disorders, including pontocerebellar hypoplasia types 4 and 5, and provides additional information on the gene’s function, related genes, and testing resources.

Please note that these are just a few examples of the scientific articles available on PubMed related to the TSEN54 gene. For more information, you can search the PubMed database and other scientific databases using the gene name, variant names, and related keywords.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases associated with these genes. It contains information on a wide variety of genetic conditions and is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health.

The catalog lists genes and diseases in a searchable format, allowing users to find information on specific genes or conditions of interest. OMIM provides additional articles, references, and related resources for further reading and understanding of the genetic basis of diseases.

Genes listed in the catalog include those implicated in various disorders, such as tRNA mutations, which can lead to diseases like pontocerebellar hypoplasia. The genetic changes associated with these conditions are described in detail, along with information on the function of the genes and their role in cellular processes.

In addition to gene-specific information, OMIM also provides a list of common conditions and diseases. The catalog includes information on testing resources, registries, and databases for specific diseases, allowing individuals and healthcare professionals to access the most up-to-date information on testing and treatment options.

The catalog is regularly updated with new discoveries and research findings. OMIM includes references to scientific articles from PubMed and other scientific databases, ensuring that the information is based on the latest scientific evidence.

OMIM is a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic conditions. It provides a comprehensive and accessible resource for understanding the genetic basis of diseases, offering insights into the underlying mechanisms and potential treatment options.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for anyone interested in genetic health. It provides a wealth of information on the genetic basis of diseases, including gene-specific information, testing resources, and related scientific articles. OMIM helps bridge the gap between scientific research and practical applications, offering a comprehensive understanding of genetic conditions and their implications for health.

Gene and Variant Databases

For the study of genetic conditions and diseases, it is crucial to have access to comprehensive databases that provide information on genes and their variants. These databases serve as valuable resources for researchers, medical professionals, and individuals interested in understanding the genetic basis of different conditions.

One of the most well-known gene databases is OMIM (Online Mendelian Inheritance in Man) which catalogs genes and genetic diseases, providing information on the function of genes, associated diseases, and references to scientific articles. OMIM is regularly updated with new information on genes and diseases, making it a valuable tool for researchers and medical professionals.

Another important gene database is the Genet Registry which focuses specifically on genes associated with conditions that have a strong genetic component. The Genet Registry provides information on gene names, mutations, and references to scientific articles related to the gene in question. It also lists additional resources that can be helpful in understanding the gene and its role in disease development.

In addition to gene databases, there are also variant databases that focus on specific types of genetic changes. One example is the tRNA gene mutation database, which catalogs mutations specifically in tRNA genes. This database is essential for researchers studying the function of tRNAs and their impact on cellular processes.

Variant databases also exist for common genetic changes, such as single nucleotide polymorphisms (SNPs) and copy number variations (CNVs). These databases provide information on the frequency of specific genetic changes in different populations and their potential impact on health and disease risk.

Overall, gene and variant databases play a crucial role in the study of genetics and genetic diseases. They provide a wealth of information on genes, their functions, and the genetic changes associated with different conditions. Access to these databases allows researchers and medical professionals to stay up-to-date with the latest research findings and aids in the development of diagnostic tests and treatment strategies.

References

• Ruissen M, Namavar Y, Vermeer S, et al. Additional mutations in TSEN54 causing pontocerebellar hypoplasia in liveborns. Eur J Hum Genet. 2008;16(9):1029-1035. doi:10.1038/ejhg.2008.72.
• Mostafavi H, Thiele H, Nürnberg P. The genetics of rare associated disorders and their implications for leukemia prognosis. Int J Mol Sci. 2021;22(6):2959. doi:10.3390/ijms22062959.
• Conditions and diseases related to the TSEN54 gene. GeneCards. https://www.genecards.org/cgi-bin/carddisp.pl?gene=TSEN54. Accessed October 25, 2021.
• TSEN54 gene – Genetics Home Reference. US National Library of Medicine. https://ghr.nlm.nih.gov/gene/TSEN54. Accessed October 25, 2021.
• String TM, et al. Epub 2017 Jul 28. Biological and clinical insights from genetics of insomnia symptoms. Nat Genet. 2017;49(11):1584-1592. doi:10.1038/ng.3924.
• This is an informative catalog with information about various genes and the diseases they are associated with. It provides resources such as scientific articles, databases, and testing information.
• PubMed – TSEN54 gene. https://pubmed.ncbi.nlm.nih.gov/?term=TSEN54+gene. Accessed October 25, 2021.
• OMIM – TSEN54 gene. https://omim.org/search/?index=geneMap&start=1&limit=10&build=all&search=TSEN54. Accessed October 25, 2021.
• Namavar Y, et al. Mutations in “complex I” genes, CIITA, and MYO18B in patients with profound microcephaly. Dev Med Child Neurol. 2011;53(11):1112-1119. doi:10.1111/j.1469-8749.2011.04104.x.
• Genetic Testing Registry – TSEN54 gene. US National Library of Medicine. https://www.ncbi.nlm.nih.gov/gtr/genes/27147/. Accessed October 25, 2021.
• Namavar Y, Barth PG, Poll-The BT, Baas F. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. Orphanet J Rare Dis. 2011;6:50. doi:10.1186/1750-1172-6-50.
• Namavar Y, Barth PG, Kasher PR, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011;134(Pt 1):143-156. doi:10.1093/brain/awq328.
• Namavar Y, et al. Clinical utility gene card for: pontocerebellar hypoplasia type 2E. Eur J Hum Genet. 2012;20(6):pii: 10.1038/ejhg.2012.10. doi:10.1038/ejhg.2012.10.