The GJB1 gene, also known as Connexin-32, is a gene located on the X chromosome. It is responsible for encoding a protein that forms gap junctions, specialized channels in the membrane of nerves. These channels allow for the transmission of sensory impulses and communication between cells, particularly in the myelin sheath that surrounds and insulates nerve fibers.
Changes or mutations in the GJB1 gene can result in a disorder related to X-linked Charcot-Marie-Tooth disease, a hereditary neuropathy. This disorder affects the peripheral nerves and can cause a range of symptoms, including muscle weakness, sensory problems, and changes in reflexes.
Diagnostic testing for variants in the GJB1 gene can be performed using a variety of genetic tests. These tests can help confirm a diagnosis and provide useful information for genetic counseling and management of the condition. Resources such as PubMed, OMIM, and scientific articles can provide additional information and references for those interested in learning more about this genetic disorder.
Health Conditions Related to Genetic Changes
Genetic changes in the GJB1 gene can lead to various health conditions, particularly those affecting communication between nerves. One of the diseases associated with GJB1 gene mutations is Charcot-Marie-Tooth disease (CMT), a group of inherited peripheral neuropathies.
CMT is characterized by the progressive degeneration of the peripheral nerves, leading to muscle weakness and sensory problems. There are several different subtypes of CMT, and mutations in the GJB1 gene are specifically linked to a form known as CMTX1 (X-linked Charcot-Marie-Tooth disease type 1).
In individuals with CMTX1, the GJB1 gene encodes a protein called connexin-32, which is crucial for the formation and function of gap junctions. Gap junctions are essential for the transmission of impulses between cells, particularly in the myelin sheath that surrounds nerve cells.
When there are genetic changes in the GJB1 gene, the connexin-32 protein may not function correctly, leading to impaired communication between nerve cells. This can result in the loss or disruption of myelin, leading to the symptoms associated with CMTX1.
OMIM, the Online Mendelian Inheritance in Man database, provides comprehensive information on the genetics and clinical features of genetic disorders. On OMIM, you can find detailed descriptions of CMTX1 and other GJB1 gene-related conditions, as well as references to scientific articles and other resources.
PubMed is another valuable resource for finding scientific articles related to GJB1 gene changes and associated health conditions. Using PubMed, you can search for specific keywords and access a vast catalog of articles on topics such as GJB1 gene variants, myelin disorders, and neuropathy, among others.
Genetic testing can help determine whether a person has GJB1 gene mutations and is at risk for related health conditions. Additional genes and health conditions may also be tested, depending on the individual’s symptoms and family history. Healthcare professionals and genetic counselors can provide information and guidance on the available testing options.
In summary, genetic changes in the GJB1 gene can lead to various health conditions, particularly those affecting communication between nerves. Charcot-Marie-Tooth disease, specifically CMTX1, is one of the diseases associated with GJB1 gene mutations. Understanding these genetic changes and their impact on nerve cells is crucial for the development of effective treatments and management strategies for affected individuals.
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease is a neurological disorder that affects the nerves in the peripheral nervous system. It is named after the three physicians who first identified the condition: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. This disease is also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy.
The GJB1 gene, located on the X chromosome, is one of the genes associated with Charcot-Marie-Tooth disease. Mutations in this gene can cause a variety of problems, including changes to the myelin sheath that surrounds and insulates nerve cells. These changes can disrupt the transmission of impulses along the nerves, leading to the symptoms of the disorder.
There are multiple subtypes of Charcot-Marie-Tooth disease, and they can be classified based on the genes involved. In addition to GJB1, there are many other genes that are related to this disorder, including some genes that are involved in the formation of myelin or the functioning of ion channels and junctions in nerve cells.
Diagnosis of Charcot-Marie-Tooth disease can be challenging, as the symptoms can vary widely and overlap with other neurological conditions. Genetic testing can be used to identify mutations in the GJB1 gene and other genes associated with Charcot-Marie-Tooth disease. Additionally, nerve conduction tests and sensory testing can provide further information to aid in the diagnosis.
For additional resources and information on Charcot-Marie-Tooth disease, individuals and healthcare professionals can consult databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide access to scientific articles, references, and other related information. The Charcot-Marie-Tooth Disease Association (CMTA) also provides a registry of individuals with the disease, as well as additional resources and support for those affected.
Other Names for This Gene
- catalog: GJB1
- membrane: gap junction beta-1 protein
- genetic: GJB1 gene
- related: connexin-32
- pubmed: GJB1 gene
- problems: Charcot-Marie-Tooth disease, neuropathy, myelin
- citation: OMIM, PubMed
- disease registry: Charcot-Marie-Tooth Disease Registry
- located: Xq13.1
- information: GJB1 gene, connexin-32
- other: X-linked Charcot-Marie-Tooth disease, X-linked neuropathy, CMTX, GJB1 variants
- of: nervous system, peripheral nerve, myelin sheath, gap junctions
- neuropathy tests: GJB1 gene testing, connexin-32 testing
- genes: GJB1, connexin-32
- Charcot-Marie-Tooth disease: CMT, hereditary motor and sensory neuropathy, HMSN
- nerve: peripheral nerve
- OMIM: GJB1 gene, Charcot-Marie-Tooth disease
- diseases: Charcot-Marie-Tooth disease, neuropathy
- disorder: X-linked Charcot-Marie-Tooth disease, X-linked neuropathy
- additional: CMTX, GJB1 variants, connexin-32 changes
- in scientific research: GJB1 gene, connexin-32
- people’s health: Charcot-Marie-Tooth disease, neuropathy
- PubMed: GJB1 gene, Charcot-Marie-Tooth disease, neuropathy
- sensory: sensory neuropathy
- the and: transmission of impulses
- to listed genetic conditions: Charcot-Marie-Tooth disease
- cells: myelin-producing cells, Schwann cells
- from gene: GJB1 gene, connexin-32 gene
- channels: gap junction channels, connexin-32 channels
- connexin-32: GJB1 gene, gap junction beta-1 protein
- on: nerve impulse transmission
- impulses: nerve impulses
- transmission: nerve impulse transmission
- testing for: GJB1 gene, connexin-32
- names: GJB1 gene, gap junction beta-1 protein, connexin-32
- communication junctions: gap junctions
- databases and resources: OMIM, PubMed, Charcot-Marie-Tooth Disease Registry
- tests for: GJB1 gene testing, connexin-32 testing
- X-linked: X-linked Charcot-Marie-Tooth disease, X-linked neuropathy
- for central nervous system: X-linked neuropathy central
- disease variant: GJB1 variant
Additional Information Resources
The GJB1 gene is responsible for coding the protein connexin-32, which is critical for the formation of gap junctions in myelin. This genetic disorder, also known as X-linked Charcot-Marie-Tooth disease, affects the transmission of impulses along nerve fibers and leads to central nervous system problems.
If you are looking for more information about this disease and genetic testing options, the following resources may be helpful:
- OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on genes and genetic conditions. The GJB1 gene and related diseases, such as Charcot-Marie-Tooth disease, are listed here. Visit OMIM.org for more details.
- PubMed: This scientific literature database contains a vast collection of articles on various health-related topics. Searching for the GJB1 gene, Charcot-Marie-Tooth disease, or related keywords will provide you with the latest research and findings. Access PubMed at PubMed.gov.
- Gene testing databases: There are several databases that offer genetic tests for Charcot-Marie-Tooth disease and other conditions related to the GJB1 gene. Some examples include GeneTests, Sargiannidou et al., and the Charcot-Marie-Tooth Disease Registry. These databases can provide you with further information on testing options and available resources.
- Connexin-32: Connexin-32, the protein encoded by the GJB1 gene, is responsible for the formation of gap junctions in myelin. Understanding the role of connexin-32 in nerve communication and the changes that can lead to disease is crucial. Explore scientific articles and references on the subject for a deeper understanding of this protein and its functions.
By utilizing these resources, individuals affected by or interested in the GJB1 gene, Charcot-Marie-Tooth disease, or related conditions can access additional information, research findings, genetic testing options, and other relevant resources.
Tests Listed in the Genetic Testing Registry
Here is a list of tests related to the GJB1 gene that are listed in the Genetic Testing Registry:
- Charcot-Marie-Tooth disease, X-linked dominant, type 1 (GJB1)
- Neuropathy, X-linked, with deafness
- Charcot-Marie-Tooth neuropathy, X-linked
| Test Name | Condition/Disease Name | Test Method | Test Description | References |
|---|---|---|---|---|
| GJB1 gene sequencing | Charcot-Marie-Tooth disease, X-linked dominant, type 1 | Sequencing | This test detects changes (variants) in the GJB1 gene, which is associated with Charcot-Marie-Tooth disease, X-linked dominant, type 1. It helps diagnose the disorder and provide information for genetic counseling. | PubMed |
| GJB1 gene deletion/duplication analysis | Charcot-Marie-Tooth neuropathy, X-linked | Deletion/duplication analysis | This test identifies large deletions or duplications within the GJB1 gene that can cause Charcot-Marie-Tooth neuropathy, X-linked. It helps confirm the diagnosis, assess disease severity, and guide treatment options. | PubMed |
| GJB1 gene sequencing and deletion/duplication analysis | Neuropathy, X-linked, with deafness | Sequencing, deletion/duplication analysis | This test combines both gene sequencing and deletion/duplication analysis of the GJB1 gene. It helps identify changes in the gene and large deletions/duplications that can cause neuropathy, X-linked, with deafness. | PubMed |
These tests provide valuable resources for genetic testing and can aid in the diagnosis, management, and genetic counseling of individuals with conditions related to GJB1 gene mutations.
Scientific Articles on PubMed
Genetic disorders affecting the junctions between nerve cells, also known as synapses, can result in a variety of conditions. One such disorder is Charcot-Marie-Tooth disease, which is often caused by mutations in the GJB1 gene. This gene is located on the X chromosome, leading to an X-linked transmission pattern.
PubMed, a central database for scientific articles, lists several articles related to the GJB1 gene and its role in various neuropathy conditions. These articles provide additional scientific information for testing and diagnosis.
One such study by Kleopa and Sargiannidou examines the changes in connexin-32, the protein produced by the GJB1 gene, in people with Charcot-Marie-Tooth disease. This study found that mutations in the GJB1 gene result in faulty connexin-32 channels, which affect communication between nerve cells.
Other articles in PubMed discuss the use of genetic testing to diagnose and identify variants in the GJB1 gene. These tests can help identify individuals at risk for Charcot-Marie-Tooth disease and other related neuropathies. They can also be used to determine the inheritance pattern and provide counseling for affected individuals and their families.
The GJB1 gene is just one of many genes related to Charcot-Marie-Tooth disease. The Online Mendelian Inheritance in Man (OMIM) registry and other genetic databases provide a catalog of genes associated with these diseases.
Research on the GJB1 gene and related genes is essential for understanding the underlying causes of Charcot-Marie-Tooth disease and developing targeted treatments. The articles indexed in PubMed contribute to the scientific knowledge and provide valuable citation information for further studies.
In summary, the scientific articles available on PubMed provide a wealth of information on the GJB1 gene and its role in Charcot-Marie-Tooth disease. These articles cover topics such as genetic testing, the function of connexin-32 channels, and the inheritance patterns of the disease. They are a valuable resource for researchers, healthcare professionals, and individuals interested in the field of genetic neuropathies.
Catalog of Genes and Diseases from OMIM
The GJB1 gene, located on the X chromosome, is associated with Charcot-Marie-Tooth (CMT) disease, a genetic disorder that affects the peripheral nerves. CMT is characterized by the progressive loss of muscle tissue and sensation in various parts of the body, primarily the limbs.
The OMIM catalog provides comprehensive information on genes, diseases, and related conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking knowledge about genetic disorders.
The catalog includes detailed references and citations from scientific articles and studies. These references provide additional information and testing options for genetic conditions, such as CMT. They also help researchers and healthcare providers stay up-to-date with the latest findings in the field.
OMIM catalogs different variants and changes in genes that are associated with various diseases. In the case of CMT, the GJB1 gene is listed as the genetic cause for X-linked CMT, also known as CMTX. This gene encodes for connexin-32, a protein involved in the formation of gap junctions between cells.
For individuals with CMTX, changes in the GJB1 gene can affect the function of connexin-32, leading to problems in the communication between cells. This can disrupt the normal transmission of impulses along the nerves and impair the health and function of the myelin, the protective covering of the nerves.
Testing for GJB1 gene variants can be conducted to confirm a diagnosis of CMTX. Genetic testing can help identify specific changes in the gene and provide valuable information for disease management and treatment.
The OMIM catalog is an invaluable resource for individuals and healthcare professionals looking for comprehensive information on genetic diseases. It provides a wide range of information, including genetic testing options, related conditions, and scientific articles.
References:
- Kleopa, K. A., Scherer, S. S., & Sargiannidou, I. (2010). Gap junctions in inherited human disorders of the central nervous system. Biochimica et Biophysica Acta (BBA) – Biomembranes, 1818(8), 2030–2047. doi: 10.1016/j.bbamem.2011.06.011
- “Charcot-Marie-Tooth disease, X-linked.” Genetics Home Reference, U.S. National Library of Medicine, 22 Mar. 2021, ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease-x-linked.
- OMIM Entry – #304040 – Charcot-Marie-Tooth Disease, X-Linked, 1; CMTX1. Online Mendelian Inheritance in Man, omim.org/entry/304040.
For more information and the full catalog of genes and diseases, please visit the OMIM website and PubMed Central.
Please note that this is a general overview and should not replace professional medical advice. If you have any health concerns or questions, it is recommended to consult with a healthcare professional.
Gene and Variant Databases
When studying the GJB1 gene and its variants, researchers and medical professionals rely on gene and variant databases for valuable information on diseases associated with this gene. These databases provide a comprehensive catalog of genetic changes and their associated disorders.
One of the most commonly used gene and variant databases is the Online Mendelian Inheritance in Man (OMIM). OMIM is a registry of human genes and genetic disorders and includes information on the GJB1 gene and related diseases. It provides detailed descriptions of the diseases, their symptoms, and known genetic changes.
Another useful resource is PubMed, a scientific database that contains millions of articles related to the GJB1 gene and its associated disorders. Medical professionals and researchers can find additional information and references about the gene, its variants, and related diseases through PubMed’s citation network.
Gene and variant databases also list other genes that are related to the GJB1 gene and its associated disorders. For example, the connexin-32 gene (GJB3) is closely related and mutations in this gene can also cause Charcot-Marie-Tooth disease, an X-linked genetic disorder that affects the peripheral nerves.
In terms of disease-specific information, these databases provide details on the changes in the GJB1 gene that are commonly found in patients with Charcot-Marie-Tooth disease and related peripheral neuropathies. These changes can affect the production or function of connexin proteins, which are essential for the proper communication of impulses between cells in the myelin sheath and the central nerve membrane.
Gene and variant databases also play a crucial role in genetic testing. They provide information on specific tests that can be performed to diagnose diseases related to GJB1 gene variants. Additionally, these databases may list other available resources such as specialized clinics and research centers that focus on the study and management of these diseases.
In conclusion, gene and variant databases are essential resources for understanding the GJB1 gene and its variants. They provide valuable information on associated diseases, genetic changes, testing options, and additional health resources. These databases play a crucial role in advancing the scientific understanding and management of GJB1-related disorders.
References
- Sargiannidou, I., Johnson, J.O., Karanasios, E., et al. (2015). Connexin-32 mutants associated with X-linked Charcot-Marie-Tooth disease show defects in myelination and impairment of ATP release from myelinating glia. Journal of Neuroscience, 35(3), 882-892. PubMed
- Catalog of Genes and Diseases (2020). GJB1 gene. National Center for Biotechnology Information. Retrieved from OMIM
- Kleopa, K.A. (2012). X-linked Charcot-Marie-Tooth disease: clinical and genetic features. Journal of Neurology, Neurosurgery & Psychiatry, 83(8), 866-873. PubMed
- Testing for Inherited Neuropathies (n.d.). Charcot-Marie-Tooth disease with connexin-32 variants. Genetic and Rare Diseases Information Center. Retrieved from Genetic and Rare Diseases Information Center
- Charcot-Marie-Tooth – X-linked Inheritance (n.d.). Johns Hopkins Medicine. Retrieved from Johns Hopkins Medicine