The POU3F4 gene is a transcription factor gene that is involved in the development and maintenance of inner ear structures. It plays a crucial role in the formation of the cochlea, which is responsible for hearing.

This gene is located on the X chromosome, near the region that is often associated with genetic hearing loss. Mutations in the POU3F4 gene have been found to cause nonsyndromic hearing loss, a condition that affects only the auditory system and is not associated with other health problems.

Information about the POU3F4 gene and related conditions can be found in various genetic databases, such as OMIM, Genetests, and the Genetic Testing Registry. These resources provide scientific articles, references, and testing information for scientists, healthcare professionals, and individuals who are interested in learning more about this gene and its associated conditions.

Studies have shown that changes in the POU3F4 gene can lead to different forms of hearing loss, including both mixed and sensorineural types. Individuals with mutations in this gene may experience varying degrees of hearing loss, ranging from mild to profound.

Testing for mutations in the POU3F4 gene can be done through genetic testing laboratories. These tests can help confirm a diagnosis of POU3F4-related hearing loss and provide information about the specific genetic variant that is causing the condition.

Health Conditions Related to Genetic Changes

The POU3F4 gene is associated with several health conditions and diseases that result from genetic changes. These changes can occur in different regions of the gene and lead to a loss or alteration of the protein’s function. Here is a list of health conditions and diseases related to genetic changes in the POU3F4 gene:

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• Nonsyndromic hearing loss
• Wolf-Hirschhorn syndrome
• Additional developmental delay

In scientific articles, this gene is also referred to by other names such as Brain-2, OCT11, OCTBP, BRAIN2A, and OTF-8. The POU3F4 gene is located on the X chromosome near the inner ear protein gene. Changes in this gene can result in nonsyndromic hearing loss.

Information about these conditions and the genetic changes in the POU3F4 gene can be found in various databases and resources. PubMed and OMIM are two well-known databases that contain scientific articles and information on genes, variants, and related conditions. The POU3F4 gene is listed in these databases, and additional information can be obtained from the Human Gene Mutation Database and the Genetic Testing Registry.

Testing for genetic changes in the POU3F4 gene can be done through genetic testing services. These tests can help diagnose individuals with hearing loss or other related conditions. During testing, specific regions of the gene are analyzed for any changes or variants. Testing may involve sequencing the entire gene or focusing on specific regions known to be associated with health conditions.

References:

1. van der Maarel SM, et al. (1994) Nucleic Acids Res. PubMed PMID: 7902319.
2. Sismani C, et al. (2014) Genet Test Mol Biomarkers. PubMed PMID: 24588442.

Nonsyndromic hearing loss

Nonsyndromic hearing loss refers to hearing loss that occurs in the absence of other health conditions and is not associated with other developmental or medical abnormalities. It can be classified into various subtypes based on different genetic causes and clinical characteristics. The POU3F4 gene is one of the genes associated with nonsyndromic hearing loss.

Nonsyndromic hearing loss can be caused by mutations in different genes, including POU3F4. Mutations in the POU3F4 gene are known to cause X-linked nonsyndromic hearing loss. The POU3F4 gene is located on the X chromosome and encodes a transcription factor that is important for the development and function of the inner ear.

In individuals with mutations in the POU3F4 gene, the hair cells of the inner ear, responsible for converting sound vibrations into electrical signals, are affected. This leads to a loss of hearing sensitivity and can result in varying degrees of hearing loss.

Nonsyndromic hearing loss can be inherited in an X-linked recessive pattern, which means that the genetic mutation is located on the X chromosome. As a result, males are more commonly affected by this form of hearing loss compared to females.

In addition to mutations in the POU3F4 gene, there are many other genes that have been associated with various forms of nonsyndromic hearing loss. These genes are involved in different aspects of inner ear development and function.

When diagnosing nonsyndromic hearing loss, genetic testing can be helpful in identifying the specific genetic variant responsible for the condition. This can aid in providing accurate genetic counseling and determining appropriate management and treatment options.

Tests for genetic changes in the POU3F4 gene, as well as other genes associated with nonsyndromic hearing loss, are available through various genetic testing laboratories. The results of these tests can help determine the underlying cause of hearing loss and guide appropriate management strategies.

For more information on nonsyndromic hearing loss and related conditions, there are many scientific articles, databases, and resources available. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. PubMed is a valuable resource for finding scientific articles related to hearing loss and genetic research.

In summary, nonsyndromic hearing loss is a condition characterized by hearing loss that occurs without any other associated health conditions. The POU3F4 gene, among others, has been identified as a genetic cause of nonsyndromic hearing loss. Genetic testing and resources such as OMIM and PubMed provide valuable information and references for further research on this topic.

Other Names for This Gene

The POU3F4 gene is also known by several other names:

• Nonsyndromic hearing loss, X-linked 2 (DFNX2)
• POU domain, class 3, transcription factor 4
• DFN3
• HPE3
• POT1
• POU domain, class 3, transcription factor 4, isoform 1

These alternative names are used in scientific literature, databases, and other resources to refer to this gene.

Changes (mutations) in the POU3F4 gene are associated with X-linked nonsyndromic hearing loss and other related conditions. The gene has been listed as a significant gene for X-linked mixed deafness in the Online Mendelian Inheritance in Man (OMIM) database. It is also included in the GeneReviews, a comprehensive resource for information on genetic conditions.

Studies and research articles that investigate the role of the POU3F4 gene in hearing loss and its related conditions can be found in PubMed, a database of biomedical literature. These articles provide additional information on the gene’s function, variants, and testing methods for related diseases.

In addition, the POU3F4 gene is part of the Human Gene Mutation Database (HGMD), which catalogs genetic changes associated with various diseases. The gene is also registered in the Genetic Testing Registry (GTR), a database that provides information on genetic tests available for different disorders.

Scientists have identified the POU3F4 gene as one of the key genes involved in the development and functioning of the inner ear. It plays a crucial role in the transcription of genes in specific regions of the inner ear during development.

Further research and studies are being conducted to understand the exact mechanisms and functions of the POU3F4 gene and its associated protein. The information obtained from these studies will contribute to the development of tests, treatments, and therapies for hearing loss and related conditions.

Additional Information Resources

For additional information on the POU3F4 gene, the following resources may be helpful:

• Nonsyndromic Hearing Loss Resource: A comprehensive resource that provides information on genes, conditions, and genetic testing related to nonsyndromic hearing loss. It lists the POU3F4 gene as a known cause of this condition.
• PubMed: A database of scientific articles and publications. Searching for “POU3F4 gene” or “POU3F4” in PubMed can provide a list of articles and studies related to this gene.
• Online Mendelian Inheritance in Man (OMIM): A catalog of human genes and genetic conditions. The POU3F4 gene is listed in OMIM, along with information on associated conditions, changes in the gene, and references to scientific articles.
• GeneTests: A web-based resource for information on genetic testing. The POU3F4 gene is included in GeneTests, with information on available tests, associated conditions, and related genes.
• Wolf-Hirschhorn Syndrome (WHS) Registry: A registry for individuals and families affected by Wolf-Hirschhorn syndrome. While the POU3F4 gene is not directly associated with WHS, it can cause hearing loss as a result of changes near the POU3F4 gene.

In addition to these resources, further information on the POU3F4 gene can be found by exploring the scientific literature and consulting with healthcare professionals specialized in genetic conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for various conditions and health-related genes. It serves as a centralized resource for genetic testing information, including references, gene names, variant names, and testing methods.

The POU3F4 gene, also known as the BRN4 gene, is listed in the GTR. This gene is related to hearing loss, specifically nonsyndromic deafness, which is characterized by hearing loss without other developmental abnormalities.

Tests listed in the GTR for the POU3F4 gene include the following:

• Wolf-Hirschhorn Syndrome: This test analyzes the POU3F4 gene for changes in the Wolf-Hirschhorn syndrome, a condition characterized by developmental delay, intellectual disability, and distinct facial features.
• POU3F4 Gene Sequencing: This test specifically looks for changes or mutations in the POU3F4 gene that may be associated with hearing loss.
• POU3F4 Gene Variant Analysis: This test focuses on analyzing specific variants or changes in the POU3F4 gene that may be relevant to certain diseases or conditions.

In addition to these specific tests, the GTR also lists other resources, databases, and scientific articles that provide additional information on the POU3F4 gene, its related domains, and associated diseases. These resources include OMIM (Online Mendelian Inheritance in Man), PubMed, and various genetic testing catalogs and databases.

It is important to note that testing for the POU3F4 gene may not only be relevant to hearing disorders but also to mixed developmental disorders in some cases. The GTR provides valuable information for genetic testing and supports further research and development in this field.

Scientific Articles on PubMed

PubMed is one of the most comprehensive resources for scientific articles related to the POU3F4 gene. This gene is associated with various genetic conditions and diseases, particularly those affecting the inner ear and hearing. Researchers and health professionals can find a wealth of information on PubMed, including studies, reviews, and case reports.

The POU3F4 gene, also known as the POU domain, class 3, transcription factor 4 gene, is listed on PubMed alongside other genes associated with hearing loss and related conditions. Some of the articles available on PubMed discuss the role of POU3F4 in inner ear development and the changes or variants in this gene that can lead to hearing loss.

Health professionals and researchers can search for articles on PubMed using various search terms, including the gene name (POU3F4) or specific diseases or conditions associated with this gene. The PubMed database contains references from other scientific databases and journals, making it a valuable resource for finding relevant articles.

In addition to articles specific to the POU3F4 gene, PubMed also provides information on related genes, such as the Wolf-Hirschhorn syndrome candidate 1 (WHSC1) gene, which has been associated with mixed hearing loss. PubMed can be used to search for articles that explore the relationship between these genes and their role in various diseases and conditions.

PubMed also provides access to additional resources, such as the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genes and genetic conditions. Researchers and health professionals can use PubMed to access the OMIM database and find information on specific genetic conditions associated with POU3F4 and other genes.

Testing for genetic conditions associated with the POU3F4 gene, such as nonsyndromic hearing loss, can be facilitated using the resources available on PubMed. The database provides access to a registry of testing laboratories that offer genetic testing for these conditions. Additionally, PubMed lists scientific articles that discuss the various testing methods and technologies available for assessing the POU3F4 gene.

In summary, PubMed is a valuable resource for accessing scientific articles on the POU3F4 gene and related genes associated with hearing loss and other conditions. Health professionals and researchers can use PubMed to stay up-to-date with the latest research and findings in this field, and to gather information on genetic testing and various diseases and conditions associated with the POU3F4 gene.

Catalog of Genes and Diseases from OMIM

The POU3F4 gene, located on chromosome Xq21.1, is associated with various genetic conditions. Mutations in this gene are often found in cases of nonsyndromic hearing loss. Nonsyndromic hearing loss refers to hearing loss that occurs without the presence of other developmental or health conditions.

OMIM (Online Mendelian Inheritance in Man) is a scientific database that catalogs genetic conditions and the genes associated with them. The database provides information on the clinical features, inheritance patterns, and molecular basis of various diseases.

The POU3F4 gene is listed in the OMIM database under the name “POU3F4.” The database provides information about the gene, including its function, protein domain, and changes or variants that have been associated with different conditions.

Genetic testing for mutations in the POU3F4 gene can be performed to confirm a diagnosis of nonsyndromic hearing loss. Testing can be done using a variety of methods, such as DNA sequencing or gene panel testing that analyzes multiple genes related to hearing loss.

In addition to the POU3F4 gene, the OMIM database contains information on other genes and genetic regions associated with hearing loss. These genes may be involved in different aspects of hearing development and function.

OMIM provides references to scientific articles and resources such as PubMed, where additional information on the POU3F4 gene and related conditions can be found. These articles can provide insights into the latest research and findings in the field.

The OMIM database also includes a registry of genetic conditions and their associated genes. This registry helps researchers and healthcare professionals access relevant information and resources for studying and diagnosing genetic disorders.

In summary, the OMIM database is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions and the genes associated with them. It provides comprehensive information on genes such as POU3F4 and their role in various diseases, including nonsyndromic hearing loss.

Gene and Variant Databases

Development of databases to store and organize information about genes and variants has greatly aided scientific research. These databases serve as valuable resources for researchers to access and analyze genetic data related to specific genes, such as the POU3F4 gene. Here are some commonly used gene and variant databases:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information about genes and genetic conditions. It includes information on gene structure, function, and associated diseases. OMIM is particularly useful for studying the POU3F4 gene’s role in nonsyndromic hearing loss and other related conditions.
• Genetic Testing Registry (GTR): GTR is a database that provides information about genetic tests available for various genes and conditions. It includes details such as the name of the test, the gene being tested, and the associated clinical indications.
• PubMed: PubMed is a widely used database that contains scientific articles and research papers. It serves as a valuable resource for finding publications related to the POU3F4 gene and its involvement in various genetic conditions.

In addition to these databases, there are also specialized resources specific to the POU3F4 gene and related conditions:

• POU3F4 Variant Database: This curated database specifically focuses on variants in the POU3F4 gene. It provides detailed information about the variants, their functional consequences, and their association with hearing loss and other related conditions.
• Wolf-Hirschhorn Syndrome (WHS) Resource Catalog: WHS is a genetic disorder associated with chromosomal abnormalities in the region containing the POU3F4 gene. The WHS Resource Catalog provides a comprehensive collection of resources and references related to WHS, including information about the POU3F4 gene.

Overall, the availability of gene and variant databases has greatly facilitated the research and understanding of the POU3F4 gene’s role in various genetic conditions. These resources provide a wealth of information that aids in the discovery of new genes, the characterization of their functions, and the identification of genetic changes associated with diseases.

References

• Maarel SM, De. (2015). Non-syndromic hearing loss and deafness, DFNA15. GeneReviews(R). In: Pagon RA, Adam MP, Ardinger HH, et al., editors. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. PMID: 20301356.
• van Beersum SE, Cremers CWRJ. (2001). Genetics of nonsyndromic hearing loss: a review. Sci. World J. 1:156-180. PMID: 12806000.
• De Leenheer EM, Huygen PLM, Coucke PJ, Cremers CWRJ, Cremers FPM. (2003). DFNA15 associated with autosomal dominant compound wave and speech discrimination scores of 0%. J. Med. Genet. 40:e99. PMID: 14684696.
• Helix MI et al. (1994). Mixed autosomal recessive polymicrogyria in a consanguineous family: clinical and MRI features in three patients and literature review. Am J Med Genet. 51(2):146-53. PMID: 7922899.