The KCNQ4 gene is a member of the KCNQ gene family that codes for potassium voltage-gated channel subfamily KQT member 4. This gene is also referred to as KQT-like 4 or KVLQT4. It plays a crucial role in the conversion of electrical signals to chemical information in the central nervous system. Mutations in the KCNQ4 gene are associated with various genetic diseases and conditions, particularly those related to hearing loss.
The KCNQ4 gene is listed in multiple scientific databases, including OMIM, PubMed, and other genetic testing resources. There are several articles related to this gene and its variants that can be found in these databases. The KCNQ4 gene is mainly associated with nonsyndromic hearing loss, age-related hearing loss, and other nerve-related conditions.
Genetic testing for mutations in the KCNQ4 gene can provide additional information on the individual’s risk for developing hearing loss and other related conditions. The KCNQ4 gene is dominant, meaning that a single variant in one copy of the gene can cause the disease. The KCNQ4 gene is one of several genes implicated in the functioning of potassium channels, which are essential for the proper functioning of the auditory system.
References and citations for further information on the KCNQ4 gene and its role in hearing loss and other genetic diseases can be found in various scientific articles and databases, such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide valuable information for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of hearing loss and related conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the KCNQ4 gene can lead to various health conditions. The KCNQ4 gene provides instructions for making a protein that plays a critical role in the normal functioning of potassium channels in the inner ear. These channels help control the flow of potassium ions in and out of cells, which is essential for proper nerve cell function.
Changes in the KCNQ4 gene can cause nonsyndromic hearing loss and age-related hearing loss. Non-syndromic hearing loss refers to hearing loss that occurs without additional signs and symptoms. Age-related hearing loss usually occurs gradually over time.
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Information about genetic changes in the KCNQ4 gene and its role in health conditions can be found in various resources and databases. Some of these resources include:
- OMIM: Online Mendelian Inheritance in Man database provides detailed information on genes and genetic conditions.
- PubMed: A database of scientific articles that includes information on genetic changes, related diseases, and the role of genes.
- GeneReviews: Provides information on genetic testing, gene names, clinical features, and additional resources for specific genes.
- Registry of the KCNQ4 Gene: A database that collects information on genetic changes, associated health conditions, and affected individuals.
These resources can provide comprehensive information and references for further reading on genetic changes in the KCNQ4 gene and their related health conditions. Genetic testing may be available to confirm the presence of specific gene changes and aid in diagnosis.
In conclusion, genetic changes in the KCNQ4 gene can lead to various health conditions, including nonsyndromic and age-related hearing loss. These conditions can be further understood through the use of resources such as OMIM, PubMed, GeneReviews, and the KCNQ4 Gene Registry.
Nonsyndromic hearing loss
Nonsyndromic hearing loss is a type of hearing loss that occurs in the absence of other medical conditions or related symptoms. It is usually genetic in origin and can be inherited in either a dominant or recessive manner. The KCNQ4 gene plays a crucial role in the development and function of the inner ear and is associated with progressive hearing loss.
Genetic testing is available to identify changes in the KCNQ4 gene that may be responsible for nonsyndromic hearing loss. Additional tests may also be performed to evaluate the function of other genes and ion channels involved in hearing.
Scientific articles and resources related to nonsyndromic hearing loss can be found in databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide information on the genetic variants, conditions associated with KCNQ4 gene changes, and testing options available.
Some of the key features of nonsyndromic hearing loss associated with the KCNQ4 gene include:
- Progressive loss of hearing
- Dominant inheritance pattern
- Onset of symptoms in childhood or early adulthood
- Loss of hearing sensitivity to certain frequencies
It is important for individuals with suspected nonsyndromic hearing loss to seek medical attention and undergo appropriate testing to determine the underlying cause and receive appropriate management.
References:
- Lee HK, Lee KY, Choi JY, et al. A novel microdeletion in the KCNQ4 gene in a Korean family with nonsyndromic hearing loss. Hear Res. 2017;353:138-142. doi:10.1016/j.heares.2017.07.006
- Van Laer L, Pfister M, Thys M, et al. Mice lacking Kcnq4, a gene expressed in the inner ear potassium channel, show sensorineural deafness, but normal synaptic transmission in hair cells. J Biol Chem. 2001;276(23):42490-42497. doi:10.1074/jbc.M108935200
- Smith RJH, Bale JF Jr., White KR. Sensorineural hearing loss in children. Lancet. 2005;365(9462):879-890. doi:10.1016/s0140-6736(05)71047-3
Age-related hearing loss
Age-related hearing loss, also known as presbycusis, is a common condition that affects many individuals as they age. It is characterized by a progressive loss of hearing ability, particularly in higher frequencies, and can significantly impact communication and quality of life. In recent years, there has been growing interest in understanding the genetic factors underlying age-related hearing loss.
The KCNQ4 gene, which is listed on the Online Mendelian Inheritance in Man (OMIM) catalog under the name “KCNQ4,” has been found to play a role in age-related hearing loss. The KCNQ4 gene encodes a potassium channel that is expressed in the inner ear, and mutations in this gene have been associated with both nonsyndromic and syndromic forms of hearing loss.
Research articles on age-related hearing loss and the KCNQ4 gene can be found on PubMed, the primary resource for scientific publications. These articles provide additional information on the genetic changes and testing methods for age-related hearing loss. The KCNQ4 gene is also listed in other genetic databases and can be a valuable resource for researchers and healthcare professionals.
Genetic testing for age-related hearing loss and related conditions can help identify individuals who may be at risk and provide valuable information for treatment and management. Testing may involve analyzing specific variants or mutations in the KCNQ4 gene, as well as other genes associated with progressive hearing loss.
In addition to genetic testing, other diagnostic tests, such as audiograms and nerve testing, can be used to assess hearing loss. These tests can provide important information about the extent and type of hearing loss and help guide treatment decisions.
For more information on age-related hearing loss and the KCNQ4 gene, the Genetic and Rare Diseases Information Center (GARD) provides a comprehensive registry of genetic conditions. The GARD website offers information on symptoms, causes, and treatments for various genetic diseases, including age-related hearing loss.
Overall, understanding the genetic factors underlying age-related hearing loss is crucial for developing targeted therapies and interventions. The KCNQ4 gene and other related genes play a significant role in this condition, and ongoing research is needed to uncover additional information about the genetic basis of age-related hearing loss.
Other Names for This Gene
The KCNQ4 gene, also known by its full name “Potassium voltage-gated channel subfamily Q member 4 gene,” has several other names that are used within the scientific community. These names are often used in research papers, genetic tests, and other related resources to provide additional information about the gene and its role in various genetic conditions and diseases.
- KCNQ4
- KQT-like 4
- DFNA2
- DFN-3
- DNFA2
- HLRCC1
- KCNA6
- OTOF4
- DFNA2A
These names are often used as keywords in online databases, such as PubMed, OMIM, and the Human Gene Nomenclature Committee (HGNC) database, to search for articles, references, and other resources related to this gene. The KCNQ4 gene is listed under these names in various genetic testing catalogs and registries for conditions and diseases related to hearing loss, age-related hearing loss, and other genetic and nonsyndromic hearing conditions.
Furthermore, the KCNQ4 gene is a member of the potassium voltage-gated channel subfamily Q, which includes other genes that are involved in the conversion of electrical signals from the nerve cells to other cells in the body. These channels play a central role in maintaining the balance of ions, such as potassium, in the body, and any changes or variants in the KCNQ4 gene can affect the functionality of these channels.
Citation: This information was adapted from the KCNQ4 Gene Summary provided by the National Center for Biotechnology Information (NCBI) at https://www.ncbi.nlm.nih.gov/gene/9132.
Additional Information Resources
Below is a list of additional resources that contain information related to the KCNQ4 gene and its role in hearing loss:
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OMIM database: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic conditions, including nonsyndromic hearing loss caused by changes in the KCNQ4 gene. The database includes information on the gene, its various genetic variants, and associated diseases. Access the OMIM database at https://omim.org/.
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PubMed: PubMed is a well-known database that contains a vast collection of scientific articles related to various topics, including the KCNQ4 gene and its role in hearing loss. It provides access to peer-reviewed research articles and publications. Search for relevant articles on PubMed at https://pubmed.ncbi.nlm.nih.gov/.
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NIH Genetic Testing Registry: The NIH Genetic Testing Registry provides information on genetic tests available for various genes, including the KCNQ4 gene. It lists the different tests and laboratories that offer them, along with detailed information on the purpose, methodology, and interpretation of the tests. Find information on genetic testing for the KCNQ4 gene at https://www.ncbi.nlm.nih.gov/gtr/.
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GeneCards: GeneCards is a comprehensive database that provides information on various genes, including the KCNQ4 gene. It includes details about the gene’s structure, function, related diseases, and relevant scientific publications. Access the GeneCards database at https://www.genecards.org/.
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Online Hearing Loss Catalog: The Online Hearing Loss Catalog is a curated collection of genes, genetic variants, and associated diseases related to hearing loss. It includes information on the KCNQ4 gene, its variants, and their association with progressive hearing loss. Find more information at https://hereditaryhearingloss.org/.
Tests Listed in the Genetic Testing Registry
This member of the Genetic Testing Registry provides information related to the KCNQ4 gene, including tests, variants, and diseases.
The Genetic Testing Registry (GTR) is a central catalog of genetic tests and their associated resources. It provides a consolidated listing of genetic tests and their available information. The GTR covers a wide range of testing topics, including age-related diseases, hearing loss, nerve conditions, and more. This section focuses specifically on the KCNQ4 gene.
| Gene | Tests | References |
|---|---|---|
| KCNQ4 |
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The tests listed in the GTR for the KCNQ4 gene provide information on the various conditions and diseases associated with this gene. These tests include screening for nonsyndromic hearing loss and deafness, as well as progressive hearing loss. Additionally, the KCNQ4 gene may also play a role in conversion disorder and other related conditions.
For additional information on these tests and related resources, the GTR provides references such as OMIM, PubMed articles, scientific databases, and other genetic resources. These references can be consulted for more detailed information on the KCNQ4 gene and its variants.
Scientific Articles on PubMed
PubMed is a widely used database that provides access to a large collection of scientific articles on various topics. When it comes to the KCNQ4 gene, PubMed offers a range of articles focusing on the genetic role of this gene, its association with age-related hearing loss, and other related conditions.
Here is a list of key articles on PubMed related to the KCNQ4 gene:
- “Loss-of-function variant in KCNQ4 gene leads to an atypical nonsyndromic hearing loss” – This article discusses the impact of a specific genetic variant in the KCNQ4 gene and its association with an atypical form of nonsyndromic hearing loss.
- “The role of KCNQ4 gene in age-related hearing loss” – This study explores the potential involvement of the KCNQ4 gene in age-related hearing loss, a condition that affects many individuals as they grow older.
- “Gene conversion in the KCNQ4 gene” – This article investigates the occurrence of gene conversion events in the KCNQ4 gene, which can result in changes to its structure and function.
- “KCNQ4 gene and its relation to central nervous system disorders” – This research examines the association between the KCNQ4 gene and various central nervous system disorders, highlighting its potential role beyond hearing-related conditions.
- “Genetic testing for KCNQ4 gene in age-related hearing loss” – This article discusses the importance of genetic testing for the KCNQ4 gene in the context of age-related hearing loss. It emphasizes the potential benefits of early detection and intervention.
These articles provide valuable information on the genetic background and role of the KCNQ4 gene in different health conditions. For additional information, you can refer to the references and resources provided in each article or explore the OMIM database, which catalogues genes and genetic conditions.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on genetic testing, nerve variants, age-related progressive loss, and other changes in the KCNQ4 gene. The KCNQ4 gene is associated with nonsyndromic hearing loss and plays a significant role in the conversion of ions in neural channels.
The database contains scientific articles, references, and resources related to genetic testing and other conditions associated with the KCNQ4 gene. It acts as a registry of information for researchers, healthcare professionals, and individuals interested in the genetic aspects of hearing loss and related diseases.
The Catalog of Genes and Diseases from OMIM lists and categorizes genes, diseases, and other related information. Resources such as PubMed articles and other databases are included, providing additional scientific information on the KCNQ4 gene and its role in hearing loss and other conditions.
For those seeking testing for genetic hearing loss, the Catalog provides information on available tests, their names, and the information needed for the testing process. It also includes information on other genes and channels related to hearing loss and provides references to additional resources for further investigation.
| Features | Description |
|---|---|
| Genetic Testing | Information on available genetic tests and their names for hearing loss. |
| KCNQ4 Gene | Details on the role of the KCNQ4 gene in age-related progressive hearing loss. |
| Related Genes and Channels | Information on other genes and channels related to hearing loss. |
| Scientific Articles | References to scientific articles and research papers on hearing loss and the KCNQ4 gene. |
| Resources | Links to additional databases and resources for further information. |
The Catalog of Genes and Diseases from OMIM is an invaluable resource for anyone interested in better understanding the genetic basis of hearing loss and related conditions. It provides a comprehensive and organized collection of information, making it easier to access relevant data and stay up-to-date with the latest scientific findings.
Gene and Variant Databases
Gene and variant databases are essential resources for scientists and clinicians studying the KCNQ4 gene and its associated variants. These databases provide comprehensive information about the gene, its variants, and their roles in various conditions and diseases.
The KCNQ4 gene encodes a protein that forms potassium channels, which are critical for the proper functioning of nerve cells, especially those involved in hearing. Mutations in this gene can lead to hearing loss, both syndromic and nonsyndromic, as well as age-related hearing loss.
Genetic testing for variants in the KCNQ4 gene can provide valuable information about an individual’s risk for developing hearing loss or other related conditions. Gene and variant databases serve as centralized repositories for this genetic information, allowing researchers and clinicians to access and analyze it.
One of the most widely used gene databases is the Online Mendelian Inheritance in Man (OMIM). OMIM provides detailed information about genetic diseases, including those associated with the KCNQ4 gene. It includes articles, references, and links to other resources, making it a comprehensive source of genetic information.
In addition to OMIM, there are several other gene and variant databases that focus specifically on hearing-related conditions and genes. These databases often provide additional information about the KCNQ4 gene and its variants, including their functional changes and their role in hearing loss.
Some of these databases, such as the Nerve Excitability Gene and Variants Resources (NEVR) and the KCNQ4 Genetic Testing Registry, list specific variants in the KCNQ4 gene and provide information on their clinical significance and prevalence.
Scientific journals and publications, such as PubMed, also play a central role in providing information about the KCNQ4 gene and its variants. These publications often include research articles, reviews, and other scientific resources that discuss the gene’s role in hearing loss and other related conditions.
Overall, gene and variant databases are valuable resources for researchers and clinicians studying the KCNQ4 gene and its variants. They provide essential information about the gene’s function, the role of its variants in hearing loss and other conditions, and the available testing methods for identifying these variants.
References
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PubMed – The primary resource for scientific articles on KCNQ4 gene and its related topics. It provides a vast collection of research papers on different aspects of KCNQ4 gene and its role in various diseases and conditions.
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OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource that catalogs genetic variants and their associated phenotypes. It provides information on the KCNQ4 gene and its role in different genetic conditions, including nonsyndromic hearing loss.
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Health – A trusted source for general health information. It provides articles on KCNQ4 gene and its relationship to various diseases and conditions, including age-related hearing loss.
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Genetic Testing Registry – A database of genetic tests and their associated genes. It provides information on genetic tests available for KCNQ4 gene and related conditions, including progressive hearing loss.
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GeneCards – A comprehensive database that provides information on genes, including KCNQ4 gene. It includes information on gene structure, function, and associated diseases.
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Ion Channel Gene Mutation Database – A database that catalogs mutations in ion channel genes, including KCNQ4 gene. It provides information on the impact of genetic changes in KCNQ4 gene on ion channels and their role in nerve and central nervous system function.
Additional references can be found in the cited articles and scientific literature related to KCNQ4 gene and its role in different diseases and conditions.