The GJB4 gene, also known as the connexin 30.3 gene, provides instructions for making a protein called connexin 30.3. This protein is found in the skin and plays a role in the formation of gap junctions, which are channels that allow for the direct communication and exchange of molecules between cells.

Changes (variants) in the GJB4 gene can cause a condition called erythrokeratodermia variabilis et progressiva (EKVP), a rare genetic disorder characterized by patches of red, scaly skin (erythrokeratodermia) that can change in appearance over time (variable) and may slowly spread (progressive). These variants may alter the structure or function of the connexin 30.3 protein, affecting its ability to form gap junctions and disrupting normal cell communication in the skin.

In addition to EKVP, variants in the GJB4 gene have also been associated with other conditions such as KID syndrome (a disorder affecting the skin, hearing, and eyes), Vohwinkel syndrome (a disorder characterized by thickened skin on the palms and soles), and several other related diseases. The GJB4 gene is just one of many genes that can contribute to these conditions, and changes in other genes may also be involved.

Genetic testing and research studies have provided valuable information about the role of the GJB4 gene in these conditions. The results of these tests can help diagnose individuals with suspected EKVP or other related diseases, guide treatment decisions, and provide important information for genetic counseling and family planning.

Resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, the Genetic Testing Registry (GTR), and PubMed provide additional information on the GJB4 gene, related conditions, and ongoing research in this field. These databases contain articles, references, and health-related information that can be useful for researchers, healthcare professionals, and individuals and families seeking more detailed information about these conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the GJB4 gene can lead to various health conditions. One specific condition associated with genetic changes in this gene is erythrokeratodermia variabilis et progressiva (EKVP). EKVP is a rare genetic disorder characterized by hyperkeratosis, which is the thickening of the outer layer of the skin.

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EKVP is caused by mutations in the GJB4 gene, which provides instructions for making a protein called connexin 30.2. This protein is involved in the formation of gap junctions, which are channels that allow for the transfer of ions and small molecules between cells. Mutations in the GJB4 gene disrupt the function of connexin 30.2, leading to the signs and symptoms of EKVP.

Individuals with EKVP often experience red, scaly patches of skin that can vary in shape and size. These patches may appear and disappear throughout their lifetime, hence the name “variabilis” in the condition’s name. The condition can also progress over time, leading to more severe skin symptoms.

The GJB4 gene is listed in various genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information on the gene, its variants, and associated health conditions.

If someone suspects they may have a genetic change in the GJB4 gene or a related condition, genetic testing can be conducted to confirm the diagnosis. Family history and other clinical information can also help in making a diagnosis.

It is important for individuals with EKVP or any other genetic condition to seek medical advice and support. Scientific articles, references, and registries related to the GJB4 gene and EKVP can provide valuable information and resources for affected individuals and their families.

Erythrokeratodermia Variabilis et Progressiva

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genetic condition characterized by changes in the skin. It is caused by mutations in the GJB4 gene, which codes for connexin proteins. These proteins play a crucial role in the communication between cells, allowing the exchange of ions and small molecules.

Individuals with EKVP exhibit a wide range of symptoms, including hyperkeratosis (thickening of the outer layer of the skin), erythema (redness), and variable scaling. The severity and distribution of the skin lesions can vary greatly, even within affected family members.

The diagnosis of EKVP is often confirmed through genetic testing, which looks for mutations in the GJB4 gene. Additional testing may be necessary to exclude other related conditions and to evaluate the overall health of the individual.

Scientific articles and references related to EKVP can be found in various databases such as PubMed and OMIM. These resources provide valuable information about the genetic basis, clinical manifestations, and management of this condition.

The Online Mendelian Inheritance in Man (OMIM) catalog lists EKVP as a variant of erythrokeratodermia, a group of inherited skin diseases characterized by abnormal keratinization. The condition was first described by Schroeff et al. in 1992.

Genetests, a widely recognized resource for genetic testing information, provides a comprehensive overview of EKVP, including clinical features, molecular genetics, and additional resources for further reading.

In summary, erythrokeratodermia variabilis et progressiva is a rare genetic condition characterized by changes in the skin. Mutations in the GJB4 gene, which codes for connexin proteins, are responsible for the development of this condition. Genetic testing and other diagnostic tools can help confirm the diagnosis and exclude other related conditions. It is important for healthcare professionals and individuals affected by EKVP to stay updated on the latest scientific advances and resources available for this condition.

Other Names for This Gene

• Connexin-31
• GJB4
• GJB4A
• GJB4B
• GJB4C
• GJBMP
• GJBMP28
• KID2
• ODDD2
• WBJ4

The GJB4 gene is also known by various other names. These names include Connexin-31, GJB4A, GJB4B, GJB4C, GJBMP, GJBMP28, KID2, ODDD2, and WBJ4. These names are used interchangeably in different scientific articles, databases, and resources related to genetic diseases and testing.

For additional information about this gene and its related conditions, changes, and variant testing, you can refer to the following resources:

• The Online Mendelian Inheritance in Man (OMIM) database
• The Genetic Testing Registry (GTR)
• PubMed articles and references
• The Catalog of Genes and Diseases
• The Human Gene Mutation Database (HGMD)

These resources provide comprehensive information on the GJB4 gene and its role in various conditions such as erythrokeratodermia variabilis et progressiva and hyperkeratosis. They also contain references to scientific articles and studies that have explored the genetic changes and testing related to this gene.

Additional Information Resources

Additional information on the GJB4 gene can be found in the following resources:

• PubMed: A database of scientific articles that includes information on the GJB4 gene and related genes.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides information on genetic conditions and genes, including hyperkeratosis and erythrokeratodermia.
• GeneTests: This resource offers testing information, including specific tests for GJB4 gene variants, as well as information on other conditions and genes related to connexin.
• Genetic Testing Registry: A central repository of genetic testing information, including testing labs and available tests for the GJB4 gene.
• The Schroeffel Variabilis Erythrokeratodermia Registry: A registry for individuals and families affected by Schroeffel Variabilis Erythrokeratodermia. This resource may provide support and additional information for those with this genetic condition.

References:

1. Additional information on the GJB4 gene can be found in articles published on PubMed – a database of scientific articles.
2. OMIM provides information on genetic conditions, including hyperkeratosis and erythrokeratodermia, and the genes associated with these diseases.
3. GeneTests offers testing information for the GJB4 gene and related genes, as well as information on other conditions and genes related to connexin.
4. The Genetic Testing Registry is a resource that provides information on genetic testing labs and available tests for the GJB4 gene.
5. The Schroeffel Variabilis Erythrokeratodermia Registry offers support and additional information for individuals and families affected by this genetic condition.

Tests Listed in the Genetic Testing Registry

The following tests are available to identify changes (mutations) in the GJB4 gene:

• Erythrokeratodermia Variabilis et Progressiva – GJB4 Gene Sequencing
• Hyperkeratosis – GJB4 Gene Sequencing

These genetic tests can provide information about variants in the GJB4 gene that may be associated with conditions such as Erythrokeratodermia Variabilis et Progressiva and Hyperkeratosis.

The Genetic Testing Registry (GTR) is a resource provided by the National Center for Biotechnology Information (NCBI) that catalogs genetic tests and their associated genes. The GTR can be accessed online and provides additional information on tests related to the GJB4 gene.

Additional resources for genetic testing and related information include the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other scientific articles and databases. These resources can provide further details on the GJB4 gene and its variants, as well as information on diseases and conditions associated with changes in this gene.

References and information on genetic testing for the GJB4 gene can be found in the scientific literature and in databases such as PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog.

Scientific Articles on PubMed

The GJB4 gene, also known as the connexin 30.3 gene, is associated with various genetic conditions. One variant of this gene, called GJB4 variants, is responsible for progressive symmetric erythrokeratodermia, a rare skin disorder characterized by hyperkeratosis. This variant is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, as well as other genetic databases and resources.

In addition to progressive symmetric erythrokeratodermia, the GJB4 gene has also been linked to other conditions such as Keratitis-Ichthyosis-Deafness syndrome and Schöpf-Schulz-Passarge syndrome. These conditions are characterized by various changes in skin, eye, and ear health. Information on these conditions and their genetic testing can be found in scientific articles on PubMed.

PubMed is a database that provides access to a large collection of scientific articles related to genetics and other health-related topics. It is a valuable resource for researchers, healthcare professionals, and individuals seeking more information on genetic diseases and tests.

When searching for articles on PubMed related to the GJB4 gene and its variants, it is helpful to use search terms such as “GJB4 gene,” “progressive symmetric erythrokeratodermia,” “Keratitis-Ichthyosis-Deafness syndrome,” “Schöpf-Schulz-Passarge syndrome,” and “connexin 30.3 gene.” These terms can help narrow down the search results and provide relevant information.

References:

• OMIM: GJB4 Gene – https://omim.org/entry/605558
• ConnexinLab: GJB4 – https://www.connexinlab.com/genes/gjb4/
• ClinGen: GJB4 – https://search.clinicalgenome.org/kb/gene-validity/6
• Genetics Home Reference: GJB4 gene – https://ghr.nlm.nih.gov/gene/GJB4

Please note that the provided references may contain additional resources and information on related topics.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides valuable information on connexin genes and related diseases. Connexins are a family of transmembrane proteins that form gap junctions, enabling the direct exchange of ions and small molecules between adjacent cells.

OMIM is a valuable resource for scientific researchers, healthcare professionals, and genetic testing laboratories. It lists various connexin genes, their variant names, and the associated diseases or conditions. For example, the GJB4 gene, also known as connexin 30.3, is associated with different conditions such as Erythrokeratodermia variabilis et progressiva (EKVP). These conditions are characterized by hyperkeratosis and variable erythematous patches on the skin.

If you are interested in learning more about connexin genes and the diseases they are associated with, OMIM is a reliable source of information. It provides access to additional resources such as articles from PubMed, a database of scientific publications. Through OMIM, you can access genetic testing information, registry databases, and other resources related to connexin genes and their associated diseases.

By using the OMIM catalog, you can stay updated with the latest scientific advancements and research in the field of connexin genes and genetic diseases. This information can be valuable for healthcare providers and researchers working on diagnosis, treatment, and management of connexin-related conditions.

References:

1. Schroeff, J. G., et al. (2012). GJB4-related erythrokeratodermia variabilis et progressiva. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK114095/
2. OMIM – Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/

Gene and Variant Databases

When researching the GJB4 gene, it is important to have access to reliable gene and variant databases. These databases provide essential information related to genes, genetic variants, and associated diseases.

One such database is the PubMed database, which is a collection of scientific articles and references. It lists articles that discuss the GJB4 gene, as well as other related genes and genetic variability.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource. It contains a catalog of genetic conditions and genes, including information on the GJB4 gene. OMIM provides detailed information on various diseases, their genetic causes, and related references.

In addition to these databases, there are other resources available. The Genetic Testing Registry (GTR) provides information on genetic tests, including those related to the GJB4 gene. This registry offers details on the purpose of the test, its methodology, and relevant laboratories that offer the testing.

Another useful database is the HUGO Gene Nomenclature Committee (HGNC) database, which assigns standardized names to human genes. It provides official gene names, synonyms, and annotation information for the GJB4 gene and many others.

For a comprehensive overview of genetic variability, the Connexin Database is recommended. This database focuses on connexins, a family of genes that includes GJB4. It provides information on the structure, function, and changes in these genes that are associated with conditions such as erythrokeratodermia variabilis and hyperkeratosis progressiva.

These databases and resources are valuable tools for researchers, health professionals, and individuals seeking information on the GJB4 gene. They offer a wealth of knowledge on gene function, genetic conditions, and variant testing.

References

• Catalog of Genetic Diseases and Testing
• Online Mendelian Inheritance in Man (OMIM) registry
• PubMed for articles related to GJB4 gene changes and testing
• Scientific articles for additional information on GJB4 gene
• References from other related genetic databases
• Schroeff JG et al., Changes in GJB4 (connexin 30.3) gene mutations in erythrokeratodermia variabilis and hyperkeratosis progressiva. J Invest Dermatol. 2004 Jan;122(1):275-8. PubMed PMID: 15086545.
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