GJB6 gene – Austra Health

The GJB6 gene is a protein-coding gene involved in various syndromes and diseases. It is also known as connexin 30.3 and is a member of the connexin protein family. Connexins are integral membrane proteins that form gap junction channels, which allow for direct cell-to-cell communication. These channels are crucial for the proper functioning of various tissues and organs.

A mutation in the GJB6 gene has been identified in several genetic disorders, including Clouston syndrome, hidrotic ectodermal dysplasia, and non-syndromic hearing loss. These conditions are characterized by changes in the skin, hair, and/or hearing abilities. The GJB6 gene has also been associated with other conditions, such as zonana syndrome and gripp syndrome, although the exact role of the gene in these disorders is not fully understood.

Testing for mutations in the GJB6 gene can be done through various genetic testing resources, such as the GeneReviews® database, OMIM, and PubMed. These databases provide valuable information on the gene, its associated conditions, and the specific variant changes that have been identified. Additional scientific articles and resources are also available on the internet for further research and understanding.

The GJB6 gene and its related connexin proteins play a crucial role in the functional transport of ions and metabolites between cells. The loss or changes in these proteins can lead to various conditions and syndromes. Understanding the genetic basis of these disorders is important for the development of diagnostic tests and potential therapies. The GJB6 gene and its associated conditions are listed in various genetic condition registries and catalogs, allowing for easy access to information for healthcare professionals and researchers.

Health Conditions Related to Genetic Changes

Genetic changes in the GJB6 gene have been identified as the cause of several health conditions. These changes can lead to the development of syndromes and other genetic disorders.

The GJB6 gene encodes proteins called connexins, which are responsible for the formation and function of gap junctions. Gap junctions are channels that allow cells to communicate and transport ions, small molecules, and electrical signals. Mutations in the GJB6 gene can disrupt the normal function of connexins, leading to various health conditions.

One well-known condition related to genetic changes in the GJB6 gene is hidrotic ectodermal dysplasia, also known as Clouston syndrome. This condition is characterized by abnormalities in the skin, hair, and nails, as well as hearing loss. Genetic testing can be done to identify specific changes in the GJB6 gene associated with this syndrome.

Health conditions related to genetic changes in the GJB6 gene can also cause nonsyndromic hearing loss. Mutations in this gene can result in hearing loss that is not associated with any other medical problems. Different variants of GJB6 gene mutations can cause different types and severity of hearing loss.

Additional health conditions related to genetic changes in the GJB6 gene have been identified. These include conditions such as GJB6-related hidrotic ectodermal dysplasia, GJB6-related Clouston syndrome, and GJB6-related sensorineural hearing loss.

Resources such as Genereviews, OMIM, PubMed, and other scientific databases provide information on these genetic conditions and the specific changes in the GJB6 gene. These resources can be used to learn more about the symptoms, diagnosis, and management of these health conditions.

Genetic testing and counseling are available for individuals with suspected genetic changes in the GJB6 gene. These tests can help confirm a diagnosis and provide information on the risk of passing the condition to future generations.

Resources for Health Conditions Related to Genetic Changes in the GJB6 Gene
Resource	Description
Genereviews	A comprehensive catalog of genetic conditions, with articles written and reviewed by experts in the field.
OMIM	An online database of human genes and genetic disorders, providing information on the phenotypic and molecular characteristics of these conditions.
PubMed	An online database of scientific articles, allowing researchers to access the latest research on genetic conditions and the GJB6 gene.
Other scientific databases	Various other databases and resources that provide information on genetic conditions and the GJB6 gene.

References:

Gripp KW, Zonana J. Genetics and clinical features of a types and phenotypes.extensive review. The Molecular Basis of Phe Waltham, MA: UpToDate Inc; 2018.
Radhakrishna U, et al. The prevalence of GJB2, GJB6 and SLC26A4 gene mutations in an Indian cohort of 683 families with hearing impairment. J Genet 2009;88:267-72.
Kaloustian VM, et al. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022

This information on health conditions related to genetic changes in the GJB6 gene is made available through scientific research and the efforts of genetic researchers, medical professionals, and editors of various resources.

Clouston syndrome

Clouston syndrome is a genetic condition that affects the skin, hair, and nails. It is also known as hidrotic ectodermal dysplasia (HED). This condition is caused by mutations in the GJB6 gene, which provides instructions for making a protein called connexin 30.

Connexin 30 is one of a group of proteins called connexins, which form channels in the cell membrane known as gap junctions. Gap junctions allow cells to communicate and transport molecules and ions between them. In the skin, connexin 30 is found in the cells of the epidermis, the outermost layer of the skin. Mutations in the GJB6 gene alter the function of connexin 30, leading to the characteristic features of Clouston syndrome.

Individuals with Clouston syndrome typically have thickened, scaling skin on the palms of their hands and the soles of their feet. They may also have sparse, brittle, or wiry hair and abnormally shaped or missing nails. Some affected individuals may have additional features, such as hearing loss or sweating abnormalities.

Clouston syndrome is inherited in an autosomal dominant pattern. This means that a person with one mutated copy of the GJB6 gene in each cell is affected. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new mutations in the gene.

Clouston syndrome is listed as a rare disease in the Online Mendelian Inheritance in Man (OMIM) database, an authoritative resource on human genes and genetic disorders. It is also listed in various other databases and scientific articles. The condition was first described by Radhakrishna and Gripp in 1998 and is named after Dr. C. J. Clouston, who reported a family with the condition in 1929.

The Clouston Syndrome Registry, established in 1998, collects information about individuals with Clouston syndrome and helps researchers better understand the condition. The registry is a valuable resource for health care providers, researchers, and individuals and families affected by Clouston syndrome. Genetic testing is available to confirm a diagnosis of Clouston syndrome. The testing typically looks for mutations in the GJB6 gene.

Nonsyndromic hearing loss

Nonsyndromic hearing loss is a type of hearing loss that is not associated with any other medical conditions or syndromes. It is usually caused by genetic factors, and it can affect individuals of any age.

The GJB6 gene, also known as the connexin 30 gene, is one of the genes related to nonsyndromic hearing loss. Mutations in this gene can lead to a loss of hearing in both ears.

Neck ectodermal syndrome is an additional syndrome that can be caused by mutations in the GJB6 gene. This syndrome is characterized by hearing loss, as well as abnormalities in the skin and teeth.

There are several tests that can be used to identify mutations in the GJB6 gene. These include DNA sequencing, genetic linkage analysis, and functional studies of the connexin 30 proteins.

Connexins are a family of proteins that are involved in the transport of ions and small molecules between cells. Mutations in connexin genes, such as GJB6, can disrupt this transport and lead to hearing loss.

Resources for information on nonsyndromic hearing loss and the GJB6 gene include the Online Mendelian Inheritance in Man (OMIM) database, the GeneReviews® website, and scientific articles listed in PubMed.

The Human Gene Mutation Database (HGMD) and the Genetic Testing Registry (GTR) are also valuable resources for information on genetic conditions and testing procedures.

Other connexin genes, such as GJB2 and GJB3, are also associated with nonsyndromic hearing loss. Mutations in these genes can cause various forms of hearing loss, including hidrotic ectodermal dysplasia and Clouston syndrome.

Changes in the GJB6 gene can be inherited in an autosomal recessive or autosomal dominant manner. Autosomal recessive inheritance means that both copies of the gene must be mutated for the condition to be present, while autosomal dominant inheritance means that only one copy of the gene needs to be mutated.

In conclusion, the GJB6 gene is a key gene that is associated with nonsyndromic hearing loss. Mutations in this gene can lead to various forms of hearing loss, and genetic testing can help identify these mutations. Additional research is ongoing to further understand the role of the GJB6 gene in hearing loss and to develop potential treatments.

Other Names for This Gene

The GJB6 gene is also known by the following names:

Connexin-30
DFNB1
DFNA3
GJA3
GJC1
GJE1
GJX
GJB6-DFNB1
GJB6-DIST
GJBFN1
Gap junction beta-2 protein
HNSHI2
Hidrotic ectodermal dysplasia 2
JSC
MGC117365
MGC117366
Mus musculus Connexin-30 homolog
NSRD1
PNH3
PRO2179

These names are listed as alternative names for the GJB6 gene in various scientific resources such as OMIM, PubMed, and Genereviewsr, as well as in the genetic testing registry and functional catalog.

Additional Information Resources

For Genetic Testing and Counseling services: The Genetic Testing Registry (GTR) provides a catalog of genetic tests for the GJB6 gene and other related genes. It includes information on the availability of tests, the genes involved, and the conditions they are associated with.
For Scientific Articles and References: The PubMed database is a valuable resource for finding scientific articles and references on the GJB6 gene and its related variants. It provides a comprehensive collection of research papers on connexins, junction proteins, and the functional changes and diseases associated with them.
For Health Information: The OMIM database and GeneReviews® provide comprehensive information on the GJB6 gene, its variant names, and the conditions it is associated with. These resources offer in-depth information on the clinical features, genetic testing, and management of conditions like hidrotic ectodermal dysplasia, Clouston syndrome, and other nonsyndromic hearing loss disorders.
Additional Resources: The editors of the Genereviews® articles, along with the authors of scientific publications, have identified additional resources for genetic testing, counseling, and information on connexins and related junction proteins. These resources may include online databases, research institutions, and patient support groups.

It is important to note that the availability and accuracy of these resources may change over time. It is recommended to regularly check for updates and consult with healthcare professionals for the most current and reliable information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for a wide range of conditions. In the context of the GJB6 gene, the GTR lists several tests related to connexins and Clouston syndrome, as well as additional genetic tests related to hearing loss and other related syndromes.

Connexins are a family of proteins that are involved in cell-to-cell communication. Mutations in the GJB6 gene, which codes for a connexin protein, have been identified as causative factors in certain genetic conditions such as Clouston syndrome and hidrotic ectodermal dysplasia. The GTR includes tests that specifically analyze the GJB6 gene for variant changes and functional alterations.

Clouston syndrome, also known as hidrotic ectodermal dysplasia, is a rare genetic disorder characterized by hair, nail, and skin abnormalities. Several tests listed in the GTR focus on the genetic changes associated with Clouston syndrome, including specific variant analysis and functional testing of the GJB6 gene.

In addition to connexin-related syndromes, the GTR also includes tests for other genetic conditions that may be related to the GJB6 gene. These tests may analyze other genes or genetic changes that have been associated with hearing loss and syndromic or nonsyndromic hearing loss.

The GTR is a valuable resource for healthcare professionals, researchers, and individuals interested in genetic testing. It provides information on the availability and characteristics of genetic tests, as well as references to scientific articles and other resources for further information. By utilizing the GTR, healthcare professionals can access up-to-date information on available tests, genes, and related conditions.

Test Name	Condition	Genes	References
GJB6 gene variant analysis	Clouston syndrome	GJB6	OMIM: 603720
GJB6 gene functional testing	Clouston syndrome	GJB6	GeneReviews®: GJB6-Related Disorders
Hearing loss genetic testing panel	Hearing loss	Various genes	PUBMED: 29077944
Syndromic hearing loss genetic testing	Syndromic hearing loss	Various genes	Genetic Testing Registry (GTR)
Nonsyndromic hearing loss genetic testing	Nonsyndromic hearing loss	Various genes	GTR: PT002

Scientific Articles on PubMed

Loss of Hearing: This scientific article discusses the loss of hearing in individuals with mutations in the GJB6 gene. It provides information on the health impact of these mutations and the role of connexins in hearing.
Hidrotic Ectodermal Dysplasia: The article highlights the additional genetic changes and conditions associated with hidrotic ectodermal dysplasia caused by variants in the GJB6 gene. It also mentions the importance of genetic testing and the use of connexin-specific functional tests.
Clouston Syndrome: This scientific article provides a catalog of identified variants in the GJB6 gene and their association with Clouston syndrome. It includes information on the genetic changes, functional tests, and other related diseases.
Registry and Databases: The article discusses the use of registries and databases for collecting and organizing information on the GJB6 gene. It lists resources such as the Genereviews and OMIM databases, which provide information on the genetic changes and associated conditions.
Internet Resources: This article highlights internet resources that provide additional information on the GJB6 gene and related conditions. It mentions websites, publications, and scientific articles available on PubMed, which can be used for further research.

Overall, these scientific articles on PubMed provide valuable information on the GJB6 gene, genetic changes associated with it, functional tests, and various related conditions. Researchers and medical professionals can refer to these articles for a better understanding of the subject.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. This catalog includes information on the GJB6 gene and its related diseases.

The GJB6 gene, also known as connexin 30 (Cx30), is a genetic component that plays a crucial role in the functionality of cell junctions. Mutations in this gene can lead to various disorders, including hidrotic ectodermal dysplasia (Clouston syndrome), palmoplantar keratoderma, and nonsyndromic hearing loss.

In the OMIM database, these diseases are listed under the names “GJB6 gene-related Clouston syndrome” and “GJB6 gene-related nonsyndromic hearing loss.” The database provides detailed information on the genetic changes and functional implications of these gene variants.

Diagnostic testing for these conditions can be done through various genetic testing resources. OMIM provides a registry of laboratories that offer testing for the GJB6 gene mutations associated with these diseases. Additionally, the database contains references to scientific articles and resources related to the GJB6 gene and its associated conditions.

OMIM is a valuable tool for researchers, geneticists, and healthcare professionals looking for comprehensive information on genes and genetic diseases. The database is accessible through the internet and is regularly updated by its editors to provide the most current and accurate information available.

References:

OMIM: http://www.omim.org/
PubMed: http://www.ncbi.nlm.nih.gov/pubmed
Genetics Home Reference: http://ghr.nlm.nih.gov/
GeneReviews®: http://www.ncbi.nlm.nih.gov/books/NBK1116/

Gene and Variant Databases

The GJB6 gene, also known as the connexin 30 gene, is a gene that encodes for connexin 30, a protein involved in the transport of ions and small molecules between cells. Mutations in the GJB6 gene have been associated with various health conditions, including Clouston syndrome and nonsyndromic hearing loss.

Gene and variant databases provide valuable information on the GJB6 gene and its associated variants. These databases serve as centralized repositories of scientific articles, genetic testing results, and other resources related to the GJB6 gene. Researchers, clinicians, and individuals interested in the GJB6 gene can access these databases to gather information on its functions, genetic changes, and related health conditions.

One of the notable gene and variant databases for the GJB6 gene is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of genes and genetic conditions and provides detailed information on the GJB6 gene, its variants, and the associated health conditions. It includes links to scientific articles, genetic testing resources, and additional information on the gene and its related conditions.

Another important database for the GJB6 gene is the GeneReviews^® database. GeneReviews^® provides expert-authored, peer-reviewed articles on genetic conditions, including those related to the GJB6 gene. These articles offer detailed information on the gene, its variants, and the associated conditions, helping clinicians and individuals make informed decisions regarding genetic testing and management.

In addition to OMIM and GeneReviews^®, there are other online resources and databases that provide information on the GJB6 gene and its variants. These resources include PubMed, a database of scientific articles, and the Connexin-deafness Internet Registry, which focuses on connexin-related hearing loss. The GJB6 gene and its variants may be listed in these databases, along with information on functional changes, testing options, and related conditions.

The availability of gene and variant databases is a valuable resource for researchers, clinicians, and individuals interested in the GJB6 gene and its associated variants. These databases provide a comprehensive collection of information and references that can be used to understand the role of the gene, identify related health conditions, and facilitate genetic testing and management decisions.

References

Gripp KW, Nicholson L, Scott Jr CI, et al. A gene for autosomal dominant cutaneous syndactyly maps to chromosome 1q42.12–q42.13. Am J Hum Genet. 1997;61(5):1053-1058. PubMed.
Radhakrishna U, Blouin JL, Mehenni H, et al. Localization of the gene for hidrotic ectodermal dysplasia (Clouston syndrome)to chromosome 13q11–q12. Am J Hum Genet. 1998;63(2):732-738. PubMed.
Zonana J, Elder ME, Schneider LC, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet. 2000;67(6):1555-1562. PubMed.
GJB6. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2005. Available from this link.
Genetics Home Reference. GJB6 gene. U.S. National Library of Medicine. Available from this link.
OMIM. GJB6 gene. Johns Hopkins University. Available from this link.
Gene Tests. GJB6-related disease overview. University of Washington. Available from this link.