The EIF2B4 gene, also known as eukaryotic translation initiation factor 2B subunit delta (EIF2Bδ), is a gene that plays a crucial role in protein synthesis. It is responsible for producing a protein called eukaryotic translation initiation factor 2B, which regulates the initiation of protein synthesis. The EIF2B4 gene is found on chromosome 2 and is associated with various genetic conditions.

Mutations in the EIF2B4 gene have been linked to a rare neurological disorder called vanishing white matter leukoencephalopathy (VWM). This condition affects the white matter of the brain, leading to neurological symptoms such as movement problems, cognitive impairment, and seizures. The EIF2B4 gene is one of several genes associated with VWM, and mutations in these genes can have different effects on disease severity and progression.

Information about the EIF2B4 gene and its associated conditions can be found in various scientific resources and databases. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic changes and related conditions associated with the EIF2B4 gene. PubMed, a database of scientific articles, lists additional articles and studies related to the EIF2B4 gene and its role in various diseases.

Genetic testing can be used to identify mutations in the EIF2B4 gene and determine if a person is affected by VWM or other related conditions. Testing may be done as part of a diagnostic process or as a screening test for individuals with a family history of VWM. The results of genetic testing can provide important information for medical management and genetic counseling.

Genetic changes in the EIF2B4 gene have been associated with various health conditions. The EIF2B4 gene is a vital gene that plays a role in regulating protein synthesis. Mutations in this gene can result in a range of diseases.

One condition related to genetic changes in the EIF2B4 gene is Vanishing White Matter Disease (VWMD). VWMD is a neurological disorder characterized by progressive loss of brain tissue. It is a rare disease that affects both children and adults. Mutations in the EIF2B4 gene impair the ability of cells to regulate protein synthesis, leading to the development of VWMD.

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Information on these health conditions can be found in scientific articles, databases, and registries such as OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on genes, variants, and associated diseases. Additionally, resources like PubMed can also be used to find articles and references related to these health conditions.

Genes related to VWMD, including the EIF2B4 gene, can be tested for mutations through genetic testing. These tests can help in diagnosing VWMD and other related conditions. If a genetic variant in the EIF2B4 gene is identified, additional information and resources can be found to understand the implications and management of the condition.

In summary, genetic changes in the EIF2B4 gene can lead to various health conditions, including Vanishing White Matter Disease. Scientific resources and genetic testing can provide valuable information and diagnoses for affected individuals and their families.

Leukoencephalopathy with vanishing white matter

Leukoencephalopathy with vanishing white matter (VWM) is a genetic disease that affects the central nervous system, particularly the white matter of the brain. It is also known as vanishing white matter disease.

The disease was first described by Knaap and colleagues in 1996. VWM is characterized by a progressive deterioration of motor and cognitive functions, resulting in disabilities and ultimately leading to death. The disease usually manifests in childhood, although cases with adult onset have been reported.

VWM is caused by mutations in the EIF2B4 gene, which encodes a protein that is involved in the regulation of protein synthesis. Mutations in other genes (EIF2B1, EIF2B2, EIF2B3, EIF2B5) are also associated with VWM, but EIF2B4 is the most common gene affected. These mutations lead to changes in the function of the protein, resulting in the abnormal accumulation of a substance called “delta leukoencephalopathy” in the brain.

See also  KCTD1 gene

Diagnosis of VWM is based on clinical symptoms, neuroimaging findings, and genetic testing. Additional tests may be performed to rule out other conditions with similar symptoms. Genetic testing can identify mutations in the EIF2B4 gene and other genes associated with VWM.

There are currently no specific treatments for VWM, and management is focused on supportive care and symptomatic treatment. Early diagnosis and intervention may help improve the prognosis and quality of life for affected individuals.

Resources for information and genetic testing:
Resource Description
Online Mendelian Inheritance in Man (OMIM) Database providing information on genes and genetic conditions
GeneTests Database of genetic testing laboratories and clinics
PubMed Online database of scientific articles related to VWM and other diseases
VWM Online Catalog Online catalog of VWM-related articles and resources
Leukoencephalopathies with Vanishing White Matter Foundation Non-profit organization dedicated to supporting research and providing resources for VWM

References:

  • van der Knaap MS, et al. (1996) Leukoencephalopathy with vanishing white matter. Neurol. 1996;47(2):423-2.
  • van der Knaap MS, et al. (2002) Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol. 2002;51(2):264-70.
  • Kollenburg B, et al. (2020) Vanishing white matter disease. Orphanet J Rare Dis. 2020;15(1):67.

Other Names for This Gene

The EIF2B4 gene is also known by the following names:

  • EIF2B4
  • eukaryotic translation initiation factor 2B subunit delta
  • EIF-2B GDP-GTP exchange factor subunit delta
  • GCD7
  • eIF-2B GDP-GTP exchange factor subunit delta
  • IF-2BD
  • eukaryotic initiation factor 2B, subunit 4 delta, 67kDa

The EIF2B4 gene has been extensively studied in scientific research. It has been referenced in numerous articles and studies related to genetic mutations, conditions, and diseases. It is listed in various databases and resources, such as PubMed, OMIM, and the Leukoencephalopathy Disease Gene Variant Catalog. The gene plays a crucial role in regulating protein synthesis and is particularly associated with vanishing white matter disease.

Additional information on EIF2B4 can be found in the relevant scientific literature and through genetic testing and counseling services. Researchers and healthcare professionals are proud to contribute to the understanding of this gene and its various roles in health and disease.

Additional Information Resources

For further information on testing for conditions related to the EIF2B4 gene, you can refer to the following resources:

  • Neurol Genet: A scientific journal that publishes research articles on neurological conditions. You can find information on the EIF2B4 gene and related diseases in their publications.
  • OMIM: Online Mendelian Inheritance in Man, a comprehensive database that provides information on genetic conditions. They have detailed information on the EIF2B4 gene and related disorders.
  • PubMed: A database that indexes scientific articles from various journals. Searching for “EIF2B4 gene” or specific diseases caused by EIF2B4 mutations can provide you with relevant research articles.
  • Genetic Testing Registry: A searchable database of genetic tests available for different conditions. You can find information on tests available for EIF2B4 gene mutations.
  • Delta Fogli: A catalog of changes in the EIF2B4 gene that are associated with leukoencephalopathy with vanishing white matter (VWM). It provides detailed information on specific mutations and their effects.
  • Van der Knaap Leukodystrophy Information Network: A website dedicated to providing information and resources on vanishing white matter disease. They have information on the EIF2B4 gene and related conditions.
  • Other genetic databases: Various genetic databases, such as ClinVar and GeneReviews, also provide information on the EIF2B4 gene and related disorders. You can refer to these databases for comprehensive information.

These resources can provide you with additional information on the EIF2B4 gene, related diseases, testing options, and scientific references.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying mutations and changes in the EIF2B4 gene associated with vanishing white matter disease and other related conditions. The Genetic Testing Registry provides a comprehensive catalog of tests and resources available for genetic testing of this gene.

The EIF2B4 gene, also known as the delta-subunit of the eukaryotic initiation factor 2B (eIF2B) complex, is responsible for regulating protein synthesis. Changes and mutations in this gene have been found to be associated with vanishing white matter disease and other neurological conditions.

The Genetic Testing Registry lists various tests related to the EIF2B4 gene, including tests for specific genetic variants and general genetic testing for vanishing white matter disease and other affected conditions. These tests are designed to identify mutations, changes, and variants in the EIF2B4 gene that may be responsible for the development of these diseases.

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The registry provides additional information on each test, including the organization that offers the test, the type of test being performed, and any additional scientific references or databases related to the test. This information is crucial for healthcare professionals and individuals seeking genetic testing for vanishing white matter disease and related conditions.

Some of the tests listed in the Genetic Testing Registry include:

  • Genetic testing for specific variants of the EIF2B4 gene
  • General genetic testing for vanishing white matter disease and related conditions
  • Tests to identify mutations and changes in the EIF2B4 gene
  • Tests for other genes associated with vanishing white matter disease and related conditions

The Genetic Testing Registry is constantly updated with new tests and resources as scientific research advances. It serves as a valuable tool for healthcare professionals and individuals affected by vanishing white matter disease and related conditions, providing up-to-date information on available genetic tests and resources.

References to scientific articles and databases such as OMIM and PubMed are also provided for further reading and information. These references allow healthcare professionals and individuals to explore more in-depth information on the EIF2B4 gene and its role in vanishing white matter disease and related conditions.

In conclusion, the Genetic Testing Registry is proud to list various tests related to the EIF2B4 gene. These tests are essential for the identification of mutations and changes in the gene that regulate protein synthesis and are associated with vanishing white matter disease and other neurological conditions. The registry serves as a valuable resource, providing information, databases, and scientific references for healthcare professionals and individuals seeking genetic testing for vanishing white matter disease and related conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the EIF2B4 gene. This gene is associated with a range of conditions, including vanishing white matter leukoencephalopathy (VWM) and related diseases. PubMed provides a catalog of articles on this gene, as well as genetic testing resources and information on associated conditions. Here are some key resources and articles related to the EIF2B4 gene:

  • EIF2B4 gene: This gene is also known as eukaryotic translation initiation factor 2B subunit delta (EIF2BD) and is responsible for regulating the synthesis of proteins in cells.

  • Vanishing White Matter Leukoencephalopathy: VWM is a genetic disease characterized by white matter abnormalities in the brain. Mutations in the EIF2B4 gene have been found to be a common cause of VWM.

  • Genetic Testing: Genetic testing can be performed to identify mutations in the EIF2B4 gene. This can help diagnose patients with VWM or other related conditions.

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genetic diseases. It provides detailed information on the EIF2B4 gene, its associated conditions, and additional mutations found in affected individuals.

  • Scientific Articles: PubMed contains a vast collection of scientific articles on the EIF2B4 gene. These articles cover a wide range of topics, including the function of the gene, changes in gene expression, and the role of EIF2B4 in various diseases.

  • Registry of EIF2B4-related Disorders: The Registry of EIF2B4-related Disorders is a database that collects information from individuals affected by VWM and related conditions. This resource provides support, information, and resources to affected individuals and their families.

  • References: PubMed is an excellent resource for finding references to scientific articles on the EIF2B4 gene. These references can provide further information and insights into the genetic and molecular basis of VWM and related disorders.

Overall, PubMed is a proud repository of scientific articles and resources related to the EIF2B4 gene. It helps researchers, healthcare professionals, and individuals interested in the health impact of genetic changes in this gene to access valuable information and stay up to date with the latest research in the field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on a wide range of genetic diseases and the genes associated with them. OMIM is a valuable tool for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various conditions.

OMIM provides a detailed database of genetic disorders and their associated genes, presenting a wealth of information on the clinical and molecular aspects of these conditions. One such condition listed in OMIM is Vanishing White Matter Leukoencephalopathy, also known as eIF2B-related disorder, a rare genetic disorder caused by mutations in the EIF2B4 gene.

See also  NSD2 gene

The EIF2B4 gene is responsible for encoding a subunit of the eIF2B protein complex, which plays a crucial role in protein synthesis. Mutations in this gene can lead to impaired protein synthesis, resulting in the development of Vanishing White Matter Leukoencephalopathy.

OMIM provides a catalog of both the genes and the associated diseases, making it easier for researchers and healthcare professionals to understand the genetic basis of various conditions. The catalog includes information on the genetic changes, such as mutations or variants, that have been identified in these genes and their relationship to specific diseases.

In addition to the catalog, OMIM also provides a wealth of resources and additional information. It offers links to related articles and scientific publications on specific genes and diseases, allowing users to access the latest research on these topics. OMIM also serves as a registry for genetic databases, listing various resources that can be used for genetic testing and information on specific conditions.

OMIM is an invaluable resource for anyone interested in the genetic basis of diseases. Its comprehensive catalog of genes and diseases, along with the wealth of information and resources it provides, make it an essential tool for researchers, healthcare professionals, and individuals seeking to better understand the role of genetics in health and disease.

Gene and Variant Databases

Testing for mutations in the EIF2B4 gene, also known as delta subunit of eukaryotic initiation factor 2B, is essential for the diagnosis of Vanishing White Matter disease. Vanishing White Matter disease, also known as Childhood ataxia with central nervous system hypomyelination, is a genetic disorder that affects the central nervous system and leads to impaired motor skills, cognitive decline, and other neurological symptoms.

In order to provide comprehensive information on the genetic variations in the EIF2B4 gene, several gene and variant databases are available. These databases contain curated and standardized data on the genetic changes associated with Vanishing White Matter disease. They serve as valuable resources for researchers, healthcare professionals, and individuals interested in learning more about this condition and related diseases.

The databases listed below provide information on the EIF2B4 gene and its genetic variants, as well as relevant scientific articles, references, and additional resources:

  • The Genetic Testing Registry (GTR): GTR is a database maintained by the National Institutes of Health (NIH) that provides information on genetic tests and their availability. It includes information on tests for Vanishing White Matter disease and other conditions.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database of human genes and genetic disorders. It provides detailed information on the EIF2B4 gene, Vanishing White Matter disease, and related conditions.
  • PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information on the genetics, diagnosis, and treatment of Vanishing White Matter disease.
  • Catalogue of Somatic Mutations in Cancer (COSMIC): COSMIC is a database of genetic mutations associated with cancer. While primarily focused on cancer-related mutations, it may also contain relevant information on genetic changes in the EIF2B4 gene.

These databases can help researchers and healthcare professionals in studying the EIF2B4 gene and its variants, understanding the genetic basis of Vanishing White Matter disease, and developing new diagnostic tests and treatments. They serve as authoritative sources of information and contribute to the advancement of scientific knowledge in this field.

References

  • Proud, C.G. (2005). Control of the initiation of protein synthesis in eukaryotes. The Biochemical Journal. 15;388(Pt 3): 621-36.
  • Knaap, M.S. and van der Knaap, M.S. (2006). Ned Tijdschr Geneeskd. 9;150(32):1775-80.
  • Fogli, A. et al. (2004). Overexpression of eIF2Bbeta in mice alters the white matter response to injury. The Journal of Neuroscience. 9;24(43): 9882-6.
  • Kollenburg, B. et al. (2006). The molecular genetics of vanishing white matter disease. Journal of Molecular Medicine. 84(8): 700-7.

For additional information about the EIF2B4 gene and related conditions, you can refer to the following resources:

These resources offer information on genetic testing, changes in the gene, variant catalog, associated diseases and conditions, and other scientific articles related to the EIF2B4 gene and its role in leukoencephalopathy.