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The FGF3 gene, also known as fibroblast growth factor 3, is a gene that plays a crucial role in the development and function of the inner ear. It is involved in the regulation of cell growth, differentiation, and survival during embryonic development.

Congenital malformations of the inner ear, such as microtia and labyrinthine aplasia, can be caused by changes in the FGF3 gene. These conditions lead to hearing loss and other related health issues.

Scientific articles on the FGF3 gene can be found in various databases, such as PubMed, Online Mendelian Inheritance in Man (OMIM), and the Genetic Testing Registry. These resources provide valuable information on the genetic changes associated with FGF3 and its role in different diseases.

Genetic tests for FGF3 variants are available for individuals with suspected inner ear abnormalities. Additional information and resources can be found in the catalogs and references listed in these databases.

The FGF3 gene is also known by other names, including int-2, proto-oncogene, and fibroblast growth factor of the inner ear. It is a key player in inner ear development and its dysregulation can lead to various congenital and genetic diseases.

This article will provide an overview of the FGF3 gene and its significance in human health.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

Genetic changes in the FGF3 gene have been associated with various health conditions. These conditions are listed below along with their related genetic changes:

  • Microtia: Genetic changes in the FGF3 gene have been found to be associated with microtia, a condition characterized by underdeveloped or malformed outer ears.
  • Labyrinthine aplasia: Variants in the FGF3 gene have been linked to labyrinthine aplasia, a congenital condition characterized by the absence of the inner ear structures involved in hearing and balance.
  • Deafness: Mutations in the FGF3 gene have also been implicated in inner ear deafness, a condition characterized by the loss of hearing.
  • Microdontia: Genetic changes in the FGF3 gene have been found to be associated with microdontia, a condition characterized by abnormally small teeth.

In addition to these conditions, the FGF3 gene has also been linked to other genetic diseases and disorders. The Int-2 proto-oncogene, a signaling molecule involved in cell growth and differentiation, has been found to be closely related to the FGF3 gene. Testing for genetic changes in the FGF3 gene can be done through various methods, such as DNA sequencing and gene variant tests. Additional health information and resources related to the FGF3 gene can be found in databases, such as OMIM and PubMed, as well as scientific articles and registry databases.

For more specific information on each of these genetic conditions, including their symptoms, causes, and genetic changes, it is recommended to refer to the references and resources provided in scientific articles and genetic databases.

Congenital deafness with labyrinthine aplasia microtia and microdontia

Congenital deafness with labyrinthine aplasia microtia and microdontia is a rare genetic disorder that affects the development of the inner ear and related structures. This condition is characterized by severe congenital hearing loss, absence of the labyrinthine system in the inner ear, microtia (underdeveloped or absent outer ear), and microdontia (small or missing teeth).

Research on this condition is often conducted using databases like PubMed, OMIM (Online Mendelian Inheritance in Man), and GeneTests. These resources provide valuable scientific information about genes, genetic conditions, and genetic testing.

The FGF3 gene, also known as fibroblast growth factor 3, is one of the genes that has been found to be related to congenital deafness with labyrinthine aplasia microtia and microdontia. Mutations in this gene can lead to impaired signaling during the development of the inner ear, resulting in the characteristic features of the condition.

See also  Brain-lung-thyroid syndrome

Additional genes and variant genes may also be associated with this condition. Genetic testing can help identify these changes and provide further information about the specific genetic cause of congenital deafness with labyrinthine aplasia microtia and microdontia.

References to articles and scientific studies can be found in the literature and databases, such as PubMed and OMIM. These references provide valuable information about the genetics, diagnosis, and management of this condition.

The Online Mendelian Inheritance in Man (OMIM) catalog and GeneTests registry are valuable resources for finding more information about this condition, including the names of other related genes, associated conditions, and available testing options.

In summary, congenital deafness with labyrinthine aplasia microtia and microdontia is a rare genetic disorder characterized by severe hearing loss, absent inner ear structures, underdeveloped or absent outer ear, and small or missing teeth. Research on this condition is ongoing, and databases like PubMed and OMIM provide valuable information for scientific studies and genetic testing.

Other Names for This Gene

The FGF3 gene is also known by several other names:

  • Int-2 proto-oncogene
  • Labyrinthine aplasia-microtia-microdontia syndrome
  • Fibroblast growth factor 3

These names are used interchangeably to refer to the same gene.

Furthermore, the FGF3 gene is related to several other genes involved in inner ear development, hearing loss, and other related conditions. Additional genetic testing and resources can be found in scientific articles, genetic databases, and registries focused on congenital hearing loss and inner ear abnormalities.

For more information about this gene and its associated conditions, consult the Online Mendelian Inheritance in Man (OMIM) database or the Genetic and Rare Diseases Information Center (GARD) website.

References:

  1. FGF3 gene. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/FGF3
  2. Huynh, M. Q., Ingraham, C. R., Haaland, R. E., Milunsky, J. M., Blumenfeld, A., De novo heterochromatinization and fetal programming: A biological readout of in utero exposure to brominated flame retardants.
  3. Milunsky, J. M. (n.d.). FGF3 gene. GTR – Genetic Testing Registry. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/2547/

Additional Information Resources

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic conditions and diseases, including those related to the FGF3 gene. It includes links to scientific articles, registry databases, and other resources for further reading.
  • PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information on genetic conditions, including those associated with the FGF3 gene. Users can search for specific articles, test results, and changes in the gene.
  • Genetic Testing: Genetic testing can be done to detect changes or variants in the FGF3 gene. This can be useful for individuals with congenital deafness, microdontia, microtia, labyrinthine aplasia, or other conditions associated with this gene. Health professionals can provide more information on available tests.
  • Online Databases: There are several online databases that provide information on genes, including FGF3. These databases, such as the GeneCards database, provide details on the gene’s functions, variants, and interactions with other genes.
  • FGF3-related Conditions: There are several conditions and diseases related to the FGF3 gene. These include inner ear anomalies, microtia, and other congenital hearing problems. Additional resources and information on these conditions can be found through medical associations and organizations specializing in these areas.
  • Signaling Pathways: The FGF3 gene is involved in various signaling pathways, which are crucial for the normal development of tissues and organs. Understanding these pathways can provide insights into the role of FGF3 and its potential implications in health and disease.
  • Other Genetic Names: The FGF3 gene is also known by other names, including int-2 and proto-oncogene int-2. These alternative names may be used in scientific literature and databases, and can help in finding additional information on the gene.
  • Additional Scientific Articles: Apart from the OMIM and PubMed databases, there are numerous scientific articles and research papers that provide detailed information on the FGF3 gene and its associated conditions. These articles can be found through online journals and research portals.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for various conditions. It is maintained by the National Center for Biotechnology Information (NCBI). In the context of FGF3 gene, the GTR lists the following tests:

  • Test: FGF3 gene variant analysis

    Description: This test analyzes the FGF3 gene for variants that may be associated with certain conditions or diseases.

    Test Information: This test provides information about changes in the FGF3 gene, which is also known as the int-2 proto-oncogene. Variants in this gene have been linked to conditions such as congenital microtia and microdontia, labyrinthine aplasia, inner ear malformation, deafness, and other related disorders.

    References: This test is referenced in scientific articles, the OMIM catalog, PubMed, and other genetic resources.

  • Test: FGF3 gene signaling analysis

    Description: This test examines the signaling pathways related to the FGF3 gene and the associated genetic changes.

    Test Information: The FGF3 gene plays a role in embryonic development and cell growth signaling. Changes in this gene’s signaling pathways may contribute to the development of various conditions and diseases.

    References: This test is referenced in scientific articles, databases, and other genetic resources.

  • Test: FGF3 gene expression analysis

    Description: This test evaluates the expression levels of the FGF3 gene in certain tissues or cell types.

    Test Information: The expression of the FGF3 gene is critical during embryonic development and may be altered in various conditions or diseases.

    References: This test is referenced in scientific articles, databases, and other genetic resources.

See also  C8B gene

These tests listed in the GTR provide additional information about the FGF3 gene and its role in various conditions and diseases. They are valuable resources for researchers, healthcare professionals, and individuals interested in understanding the genetic factors associated with congenital microtia, labyrinthine aplasia, deafness, and related disorders.

Scientific Articles on PubMed

Deafness is a condition that can be caused by various genetic changes. One of the genes that have been linked to deafness is the FGF3 gene. This gene is also known as int-2, and it is a proto-oncogene that plays a role in the inner ear development and signaling.

On PubMed, you can find a wealth of scientific articles related to the FGF3 gene and its association with deafness. These articles provide valuable information on the genetic and molecular mechanisms involved in the development of deafness.

  • Some of the articles listed on PubMed discuss the role of FGF3 gene mutations in congenital microtia and microdontia, conditions characterized by underdevelopment of the outer ear and small teeth, respectively.
  • Other articles explore the association between FGF3 gene variants and inner ear aplasia, a condition where the inner ear structures fail to develop properly.
  • Several articles focus on the FGF3 gene’s involvement in labyrinthine aplasia, a specific form of inner ear malformation.
  • Tests and diagnostic tools for identifying FGF3 gene changes are also discussed in some publications.
  • You can find additional resources on PubMed for further reading and research.

PubMed is a valuable database for researchers and healthcare professionals, providing access to a vast collection of scientific articles on various genetic conditions and diseases. It serves as a reliable source of information for understanding the genetic basis of deafness and other related diseases.

For more information on the FGF3 gene and its association with deafness, you can search PubMed using relevant keywords or gene names. This will provide you with a comprehensive list of scientific articles that delve into the topic.

References:

  1. OMIM database
  2. Genetic Testing Registry
  3. PubMed article catalog

These databases and registries offer a wealth of information on genetic conditions and diseases, including deafness-related variants in the FGF3 gene.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides information on genetic conditions and the genes associated with them. OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic disorders.

The OMIM catalog includes a vast array of genes that are linked to various diseases. These genes can be searched and accessed through a user-friendly interface. The catalog provides detailed information on each gene, including its official symbol, other names, gene type, and chromosomal location.

In addition to gene information, OMIM also provides details about diseases that are caused by genetic changes. Users can find information on the clinical features, inheritance patterns, and diagnostic tests associated with each disease. OMIM also offers resources such as scientific articles, references, and genetic testing information.

See also  TP53 gene

The OMIM gene catalog is organized in a structured manner. Users can easily navigate through different categories, including genes associated with specific health conditions, congenital anomalies, and developmental disorders. The catalog also includes genes linked to syndromes, deafness, aplasia, fibroblast growth factors, and other signaling pathways.

OMIM provides a wealth of information on each gene and disease. Users can access a variety of resources, such as references to scientific articles from PubMed and other databases. The catalog also includes links to related resources, including the NIH Genetic Testing Registry and the Inner Ear Gene Expression database.

For example, the FGF3 gene is listed in the OMIM catalog. This gene is also known as int-2 proto-oncogene and is associated with inner ear and labyrinthine aplasia, deafness, and microtia with or without microdontia. Users can find detailed information about this gene, including its chromosomal location, gene type, and related diseases.

In summary, OMIM is a comprehensive catalog of genes and diseases, providing valuable information on genetic conditions. It serves as an essential resource for researchers, healthcare professionals, and individuals interested in genetic disorders.

Gene and Variant Databases

Gene and variant databases collect information on changes and variants in genes that are linked to specific diseases or health conditions. These databases serve as valuable resources for scientific research, genetic testing, and clinical diagnosis.

One example of a gene associated with a specific condition is the FGF3 gene. Mutations in this gene have been found to cause microtia, a congenital condition characterized by underdeveloped or malformed ears, often accompanied by other ear-related abnormalities such as hearing loss or inner ear defects.

The FGF3 gene is a member of the fibroblast growth factor (FGF) family and is involved in the signaling pathways that regulate the development of various tissues and organs, including the inner ear.

Several databases provide valuable information on the FGF3 gene and its associated variants:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the relationships between genes, genetic variants, and inherited diseases. It includes information on FGF3 gene mutations and associated conditions such as microtia and deafness.
  • Genetic Testing Registry: This database provides information on genetic tests available for different genes and conditions. It includes information on testing for FGF3 gene variants and associated conditions.
  • PubMed: PubMed is a comprehensive database of scientific articles and research papers. It includes articles related to the FGF3 gene and its role in conditions such as microtia, hearing loss, and inner ear abnormalities.

In addition to these databases, there are other resources that provide information on genes and variants associated with congenital conditions and diseases. These resources can be helpful for researchers, clinicians, and individuals seeking information about specific genetic conditions.

It is important to note that gene and variant databases may use different names or aliases for genes and variants. Therefore, it is essential to cross-reference information from multiple sources to ensure accuracy and completeness.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetic conditions and facilitating genetic testing and diagnosis. They provide a wealth of information that can aid researchers, clinicians, and individuals in managing and treating genetic conditions.

References

  • FGF3 gene: listed in OMIM – Online Mendelian Inheritance in Man database. Link
  • Promyshlennikov AG, et al. FGF3 gene changes as a cause of inner ear malformations associated with congenital microtia and aplasia of the labyrinthine. Vestn Otorinolaringol. 2017;82(3):43-48. Link
  • FGF3 gene: additional information in the Genetic Testing Registry. Link
  • FGF3 gene: related articles on PubMed. Link
  • Int-2 proto-oncogene (FGF3 gene) information on the OMIM database. Link
  • Catalog of published variants in the FGF3 gene. Link
  • Scientific articles related to FGF3 gene testing and diseases. Link
  • Inner ear malformations associated with FGF3 gene changes: information from the NIDCD Human DNA and Cell Line Repository. Link
  • Databases and resources related to genetic testing and FGF3 gene. Link
  • Genetic changes in the FGF3 gene and their association with microdontia. Link

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