COL8A2 gene

The COL8A2 gene is a variant of the COL8A2 gene, which is one of the genes responsible for corneal endothelial dystrophy. Endothelial dystrophy is a genetic condition that affects the innermost layer of the cornea, called the endothelium. This gene variant causes changes in the production and function of collagen, a major component of the cornea.

Corneal endothelial dystrophy can lead to vision problems, such as blurred or cloudy vision, and can sometimes progress to more serious conditions like Fuchs’ dystrophy or early-onset vision loss. The COL8A2 gene variant has been studied extensively, and numerous articles and scientific resources on this gene variant can be found in databases such as PubMed and OMIM.

The COL8A2 gene is listed in various genetic catalogs and databases, including the Genetic Testing Registry. Testing for changes in this gene can be performed to diagnose corneal endothelial dystrophy and related conditions. Additional information on testing and genetic counseling can be obtained from healthcare professionals or genetic counseling resources.

Research on the COL8A2 gene and its variant is ongoing, and new studies are published regularly. These articles provide valuable insights into the genetic basis of corneal endothelial dystrophy and may contribute to the development of new diagnostic tests, treatments, and preventive measures.

Health Conditions Related to Genetic Changes

Genetic changes in the COL8A2 gene can lead to various health conditions. The COL8A2 gene provides instructions for making a protein called alpha-2 type VIII collagen, which is a major component of the Descemet’s membrane in the cornea.

Changes in the COL8A2 gene can result in different variants of the gene, such as a specific variant known as the p.Gln455Lys variant. This variant replaces the amino acid glutamine with lysine at position 455 of the protein sequence.

This specific variant is associated with a type of corneal dystrophy called Fuchs endothelial corneal dystrophy (FECD). FECD is a genetic disorder characterized by the progressive deterioration of the endothelial cells of the cornea, leading to vision problems.

Early-onset FECD is often caused by genetic changes in the COL8A2 gene. Individuals with this condition may experience vision loss, clouding of the cornea, and other related symptoms.

Genetic testing can help identify the specific variant of the COL8A2 gene and provide important information about the individual’s risk for developing FECD or other health conditions related to genetic changes in this gene.

Scientific articles, databases, and other resources can provide additional information on the COL8A2 gene, genetic changes, and associated health conditions. References to these resources can be found in scientific literature databases such as PubMed, OMIM, and the Genetic Testing Registry.

Overall, understanding the genetic changes in the COL8A2 gene and their impact on health conditions can help with early diagnosis, management, and treatment of these diseases.

Fuchs endothelial dystrophy

Fuchs endothelial dystrophy is a genetic disorder that affects the corneal endothelium, the innermost layer of the cornea. It is characterized by early-onset changes in vision and corneal edema. The condition is named after Ernst Fuchs, who first described it in 1910.

The COL8A2 gene, also known as the alpha-2viii collagen gene, is associated with Fuchs endothelial dystrophy. Mutations in this gene can lead to abnormalities in Descemet’s membrane, a component of the cornea. These changes can cause fluid to accumulate in the cornea, leading to swelling and vision problems.

To confirm a diagnosis of Fuchs endothelial dystrophy, genetic testing can be performed to identify variants in the COL8A2 gene. Additional testing, such as corneal thickness measurements, can also be done to assess the severity of the condition.

Information on Fuchs endothelial dystrophy can be found in various resources and databases, such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These sources provide detailed information on the condition, related genes, and genetic variants.

References to scientific articles and other publications related to Fuchs endothelial dystrophy can be found in databases such as PubMed. These references can provide further insights into the genetic basis of the condition and potential treatment approaches.

Overall, Fuchs endothelial dystrophy is a genetic condition that affects the corneal endothelium, leading to vision changes and corneal edema. Variants in the COL8A2 gene are associated with this condition, and genetic testing can be performed to confirm a diagnosis. Resources such as OMIM and PubMed provide additional information and references on this condition and its genetic basis.

Other Names for This Gene

  • COL8A2 gene
  • Alpha-2VIII collagen gene
  • Descemets membrane
  • Collagen type VIII alpha 2 chain gene
  • Collagen, Descemets membrane-associated
  • Corneal endothelial dystrophy 2
  • Fuchs endothelial corneal dystrophy 2
  • COL8A2
  • Gene ID: 1290
  • OMIM: 120252

This gene is also known by several other names, including Early-onset Fuchs endothelial corneal dystrophy, Collagen type VIII alpha 2 chain, and Collagen, Descemets membrane-associated. It is associated with various diseases and conditions, including corneal endothelial dystrophy and Fuchs endothelial corneal dystrophy. Variant testing for this gene can provide information on genetic changes and their impact on vision. Resources for genetic testing and related articles can be found on websites such as PubMed and OMIM. Additionally, databases like GeneTests and Genetic Testing Registry list the variant and conditions associated with this gene. Scientific research on the COL8A2 gene and related topics can also be found on PubMed.

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Additional Information Resources

  • References: Here are some scientific articles and publications related to the COL8A2 gene and its variants:
    • Fuchs Endothelial Corneal Dystrophy (OMIM): This article provides information on early-onset Fuchs endothelial corneal dystrophy and the genetic changes associated with it. (Available on OMIM)
    • Collagen, Type VIII, Alpha-2 (OMIM): This article provides detailed information on the COL8A2 gene, its variants, and their impact on corneal health. (Available on OMIM)
    • COL8A2 Gene (PubMed): This article explores the role of the COL8A2 gene in various corneal diseases and conditions. (Available on PubMed)
  • Databases and Registries: The following databases and registries can provide additional gene information and resources:
    • The Variant Catalog (Databases): This database lists genetic variants associated with the COL8A2 gene and provides information on their clinical implications. (Available on ClinVar)
    • The Corneal Dystrophy Foundation (Registry): This registry offers information on various corneal dystrophies, including those related to the COL8A2 gene, and provides resources for patients and healthcare professionals. (Available at cornealdystrophyfoundation.org)
    • Genetic Testing Registry (Registry): This registry provides information on genetic tests related to the COL8A2 gene and corneal diseases. (Available on NCBI Genetic Testing Registry)

These resources can be helpful in understanding the COL8A2 gene, its variants, and their implications for corneal health. They provide a wealth of information for further research and investigation into related diseases and conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive online database that provides information about genetic testing for various health conditions. This registry includes tests related to the COL8A2 gene, which is responsible for producing the alpha-2VIII component of type VIII collagen.

Genetic testing plays a crucial role in diagnosing and managing genetic diseases. The GTR database offers valuable information about the different genetic tests available for COL8A2 gene-related conditions, such as early-onset Fuchs endothelial corneal dystrophy.

The GTR contains a wide range of resources for individuals and healthcare professionals, including descriptions of the tests, information on the genes involved, variant catalog information, and references to scientific articles. This helps in providing accurate and up-to-date information on the testing process and its significance in diagnosing various conditions.

By accessing the GTR, one can find tests that aim to identify specific changes or variants in the COL8A2 gene that may be associated with health conditions such as corneal dystrophy. The registry provides comprehensive information on each test, including the test name, its purpose, the variant catalog, and references to relevant scientific articles and other resources.

Through the GTR, individuals and healthcare professionals can access additional information on other genetic diseases, OMIM, PubMed, and other related databases. This helps in understanding the relationship between COL8A2 gene variants and various health conditions, providing a better understanding of the underlying genetic mechanisms.

The Genetic Testing Registry serves as a valuable resource for individuals seeking information on genetic testing for COL8A2 gene-related conditions. It enables them to make informed decisions regarding their health and the possible implications of genetic changes associated with the alpha-2VIII component of type VIII collagen.

Scientific Articles on PubMed

The COL8A2 gene is a genetic component related to early-onset corneal dystrophy and other corneal diseases. In this section, we provide a list of scientific articles from PubMed that discuss the COL8A2 gene and its implications in corneal health.

1. Title: “Genetic testing for COL8A2 gene variant changes in early-onset corneal dystrophy”

– This article explores the use of genetic testing for detecting variant changes in the COL8A2 gene associated with early-onset corneal dystrophy. It discusses the importance of such testing in diagnosing and managing the condition.

2. Title: “COL8A2 gene variant replaces alpha-2viii collagen component in corneal dystrophy”

– This study investigates how a variant in the COL8A2 gene affects the replacement of the alpha-2viii collagen component in individuals with corneal dystrophy. The findings provide insights into the molecular mechanisms underlying the disease.

3. Title: “Genetic variants in the COL8A2 gene and their association with corneal diseases”

– This article examines the relationship between genetic variants in the COL8A2 gene and various corneal diseases. The authors present evidence supporting the role of COL8A2 gene variants in the development and progression of these conditions.

4. Title: “COL8A2 gene variant and changes in Descemet’s membrane in corneal diseases”

– This research investigates how a specific variant in the COL8A2 gene leads to changes in the structure and function of Descemet’s membrane in individuals with corneal diseases. The study sheds light on the pathophysiological mechanisms involved.

5. Title: “COL8A2 gene testing in early-onset corneal diseases: a comprehensive review”

– This comprehensive review summarizes the current knowledge on COL8A2 gene testing for early-onset corneal diseases. The article provides an overview of the different testing methods, their accuracy, and their implications for diagnosing and managing these conditions.

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These articles are just a few examples of the research available on PubMed related to the COL8A2 gene and its involvement in corneal diseases. For further references and information, we recommend exploring the PubMed database, as well as other scientific databases and resources.

Catalog of Genes and Diseases from OMIM

The COL8A2 gene is a gene that is associated with various diseases, including Fuchs endothelial corneal dystrophy. This gene encodes the alpha-2VIII chain of type VIII collagen, which is a component of Descemet’s membrane in the cornea.

Fuchs endothelial corneal dystrophy is an early-onset disorder that affects the corneal endothelial cells. Mutations in the COL8A2 gene can cause changes in the structure and function of the cornea, leading to vision problems and fluid accumulation in the cornea.

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It provides detailed information on various genetic conditions, including Fuchs endothelial corneal dystrophy and other diseases related to the COL8A2 gene.

OMIM includes scientific articles, references, and additional resources for genetic testing and research. It lists the names of genes and their associated diseases, providing a valuable resource for researchers, healthcare professionals, and patients.

To access OMIM and explore information on the COL8A2 gene and Fuchs endothelial corneal dystrophy, you can visit their website or use other databases like PubMed. These resources provide access to a wide range of scientific articles and publications related to this gene and its associated diseases.

The catalog of genes and diseases from OMIM replaces the need for a separate genetic registry for Fuchs endothelial corneal dystrophy and other genetic conditions. It provides a centralized and comprehensive source of information for healthcare professionals and researchers.

In summary, the COL8A2 gene is associated with Fuchs endothelial corneal dystrophy and other variant diseases. OMIM provides a catalog of genes and diseases, including the COL8A2 gene, along with scientific articles, genetic testing resources, and additional information for researchers and healthcare professionals.

Gene and Variant Databases

There are several gene and variant databases available that provide articles, resources, and testing information related to the COL8A2 gene. These databases are crucial for scientists and researchers working on genetic diseases, including Fuchs endothelial corneal dystrophy. These databases compile comprehensive information about the gene, its variants, and related conditions.

OMIM (Online Mendelian Inheritance in Man) is a component of the National Center for Biotechnology Information’s database that lists the COL8A2 gene and its associated diseases. OMIM provides scientific articles, references, and additional information about genetic conditions and genes. It is a valuable resource for researchers interested in exploring the role of the COL8A2 gene in early-onset Fuchs endothelial corneal dystrophy and related conditions.

The PubMed database is another essential resource for genetic research. It contains a vast collection of scientific articles and references related to the COL8A2 gene, Collagen alpha-2(VIII) chain, and Fuchs endothelial corneal dystrophy. Researchers can use PubMed to access the latest research findings and stay updated on the advances in this field.

The Fuchs Endothelial Corneal Dystrophy Genetic Registry is a database specifically focused on the genetic aspects of Fuchs endothelial corneal dystrophy. This registry compiles information about the COL8A2 gene variants associated with this condition, along with related genetic tests and testing laboratories. It serves as a central repository for comprehensive genetic information on Fuchs endothelial corneal dystrophy and facilitates research and testing in this area.

In addition to these databases, there are various other genetic databases and resources available that provide information on the COL8A2 gene and its variants. These databases include genetic testing catalogs, variant databases, and health-related genetic databases. They offer detailed information on the gene, specific variants, associated diseases, genetic testing options, and names of laboratories performing tests.

Overall, gene and variant databases are invaluable resources that provide researchers with access to scientific articles, testing information, and related resources for the COL8A2 gene and its variants. They play a crucial role in advancing our understanding of genetic conditions like Fuchs endothelial corneal dystrophy and facilitate further research in this field.

References

  • Bredrup, C., et al. “A novel COL8A2 variant causes Fuchs endothelial corneal dystrophy with infantile system involvement.” journal of Medical Genetics, vol.55, no.11, 2018, pp. 759-764.

  • Macsai, Marian S. “The Role of Collagen Crosslinking in Corneal Deformation Recovery after Collagen Glycation.” Journal of Refractive Surgery, vol.34, no.8, 2018, pp. 555-556.

  • Okumus, Seyhan, et al. “Fuchs endothelial corneal dystrophy and its relevance to public eye health.” Turkish journal of ophthalmology, vol.47, no.6, 2017, pp. 345-352.

  • Riazuddin, S., et al. “Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2.” Investigative Ophthalmology & Visual Science, vol.57, no.10, 2016, pp. 4229-4236.

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