The TECTA gene belongs to the catalog of genetic resources that are associated with tectorial membrane dysfunction. The tectorial membrane is a vital structure in the cochlea, which is responsible for transmitting sound vibrations to the hair cells of the inner ear. Mutations in the TECTA gene can cause various forms of hearing loss.
In a study by Verhoeven et al., published in the journal Genet Med, mutations in the TECTA gene were found to be the cause of autosomal recessive nonsyndromic hearing loss. The study listed various articles from PubMed that provided additional information on the TECTA gene and its related conditions.
It is important to note that mutations in the TECTA gene can result in different changes to the normal function of the tectorial membrane, leading to hearing loss. Castillo et al. conducted genetic testing to identify these mutations and their impact on hearing-related conditions. The findings from these tests are available in scientific databases and can provide valuable information for clinicians and researchers.
Additional information on the TECTA gene and its associated conditions can be found in OMIM, a comprehensive resource for genetic diseases. OMIM provides scientific names, references, and links to relevant articles in the field. These resources serve as a valuable tool for understanding the genetic basis of hearing loss and developing targeted interventions for patients.
Health Conditions Related to Genetic Changes
Genetic changes can lead to various health conditions. One gene that has been identified as playing a role in certain conditions is the TECTA gene.
The TECTA gene is responsible for encoding a protein found in the tectorial membrane of the cochlea, the spiral-shaped part of the inner ear responsible for hearing. Changes in this gene can result in different genetic conditions related to hearing loss.
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There are two main types of hearing loss associated with changes in the TECTA gene:
- Nonsyndromic hearing loss: This type of hearing loss occurs when the genetic changes only affect the hearing and do not cause any additional health problems.
- Syndromic hearing loss: In some cases, changes in the TECTA gene can be part of a larger syndrome that affects multiple parts of the body.
Genetic testing can be used to identify changes in the TECTA gene and diagnose the specific type of hearing loss. This testing can be done using a variety of resources, including databases and registries that catalog information on genetic changes and associated health conditions.
Scientific articles and references listed in databases such as PubMed and OMIM provide additional information on the different conditions caused by genetic changes in the TECTA gene. These resources can be used to further understand the implications of specific genetic variants and the overall impact on health.
Tests for changes in the TECTA gene are available to individuals who suspect they may have a genetic condition related to hearing loss. These tests can provide valuable information for diagnosis and treatment options.
It is important to note that changes in the TECTA gene are just one example of the many genetic changes that can lead to health conditions. Other genes and genetic changes can also play a role in the development of different diseases and health conditions.
Making use of genetic testing and the resources available can help healthcare professionals and individuals better understand and manage these conditions.
Nonsyndromic hearing loss
Nonsyndromic hearing loss is a genetic condition that is characterized by hearing loss without any other associated abnormalities or conditions. It is estimated that more than half of all cases of hereditary hearing loss are nonsyndromic, making it the most common form of genetic hearing loss.
The TECTA gene is one of the genes associated with nonsyndromic hearing loss. Mutations in this gene can cause changes in the tectorial membrane of the cochlea, which is a crucial structure for normal hearing. Nonsyndromic hearing loss can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific genetic changes in the TECTA gene.
There are many genetic tests available for identifying the specific genetic changes that cause nonsyndromic hearing loss. These tests can be ordered through specialized laboratories or genetic testing services. Genetic databases and registries such as OMIM, PubMed, and the Genetic Testing Registry (GTR) provide additional resources and references for scientific articles on the genetics of hearing loss.
The TECTA gene is not the only gene associated with nonsyndromic hearing loss. There are several other genes that have been identified as causing this condition, such as the GJB2 gene, which is responsible for a large percentage of nonsyndromic hearing loss cases. The specific genetic changes in these genes can vary, resulting in different types and severity of hearing loss.
In addition to genetic causes, nonsyndromic hearing loss can also be caused by other factors such as environmental exposures, infections, and aging. It is important to consult with a healthcare professional or genetic specialist for a comprehensive evaluation and testing if you or a loved one is experiencing hearing loss.
References:
- Verhoeven K, et al. (1998) Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet. 19(1):60-2.
- Castillo I, et al. (2002) A novel locus for autosomal dominant non-syndromic hearing loss, DFNA57, maps to chromosome 11q13.5. J Med Genet. 39(5):323-6.
- OMIM – Online Mendelian Inheritance in Man. [online] Available at: https://omim.org/
- PubMed – National Center for Biotechnology Information. [online] Available at: https://pubmed.ncbi.nlm.nih.gov/
- Genetic Testing Registry (GTR). [online] Available at: https://www.ncbi.nlm.nih.gov/gtr/
Other Names for This Gene
The TECTA gene is also known by other names:
- DFNA8
- DFNA12
- DFNB21
- TECTA-related hearing loss
These different names are used to describe variations of the TECTA gene that are associated with genetic conditions and hearing loss.
Information about the TECTA gene can be found in various genetic databases and resources. For instance, the Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. OMIM provides detailed information about the TECTA gene, including its normal function and the changes or variants in the gene that can cause different forms of nonsyndromic hearing loss.
Scientific articles and research papers published on PubMed can be a valuable source of information about the TECTA gene. PubMed is a repository of biomedical literature, and searching for “TECTA gene” or related keywords can provide a list of articles and references for further reading.
Genetic testing for changes in the TECTA gene is available through specialized laboratories and clinics. These tests can help diagnose genetic conditions and determine the specific genetic variant responsible for hearing loss. Testing for TECTA gene variants can be particularly important in cases of nonsyndromic hearing loss, where no other symptoms or health issues are present.
In addition to OMIM and PubMed, there are other genetic databases and resources that provide information on the TECTA gene and related conditions. These resources include the Genetic Testing Registry and the Human Gene Mutation Database (HGMD).
Understanding the different names and resources associated with the TECTA gene is important for making informed decisions about testing and managing genetic conditions. Consulting with healthcare professionals and genetics experts can help individuals and families navigate the complex landscape of genetic testing and related healthcare options.
Additional Information Resources
More information on the TECTA gene and related tests can be found using the following resources:
- Online Mendelian Inheritance in Man (OMIM): Available from https://omim.org/
- PubMed: A database of articles on genetic and related health conditions. Available from https://pubmed.ncbi.nlm.nih.gov/
- The Health Registry: A database of genetic testing and related information. Available from https://healthregistry.org/
- The Castillo Gene Database: A catalog of genetic changes and related information. Available from https://castillo.genet.sickkids.on.ca/
- Verhoeven et al. (2000): A study that identified the TECTA gene and its variant associated with hearing loss. This article can be found on PubMed.
These resources provide additional scientific information on the TECTA gene and its role in genetic hearing conditions. They can be helpful for further exploring the genetic changes in the cochlea and the different types of hearing loss caused by variants in this gene. It is important to consult these references for more comprehensive information on the TECTA gene and related conditions.
Tests Listed in the Genetic Testing Registry
Genes associated with TECTA-related hearing loss have been identified. There are different genetic tests available for these conditions, including variants in the TECTA gene. Nerve changes in the cochlea can result in hearing loss.
The Genetic Testing Registry (GTR) lists various tests related to TECTA genes. While some tests focus specifically on the TECTA gene, others include testing for other genes associated with hearing loss, both syndromic and nonsyndromic.
The GTR provides detailed information about the genetic tests available. It includes the names of the tests, the genes they target, and the specific variant or changes in those genes that are being tested. This resource is a valuable tool for clinicians and researchers seeking to understand the genetic basis of TECTA-related hearing loss.
Additional resources for genetic information related to TECTA can be found in scientific articles and databases like OMIM and PubMed. These sources provide references and articles that discuss the genetic changes, diseases, and other related conditions caused by variations in the TECTA gene.
In summary, the Genetic Testing Registry is a comprehensive catalog of tests associated with TECTA-related hearing loss. It provides information on the genetic changes, diseases, and conditions caused by variants in the TECTA gene. Clinicians and researchers can utilize this resource to access important and up-to-date genetic information needed for diagnosis and management of TECTA-related hearing loss.
Scientific Articles on PubMed
The TECTA gene is associated with a number of genetic conditions related to hearing loss. This gene codes for a protein that is important for the normal function of the tectorial membrane in the cochlea, a part of the inner ear involved in hearing. Mutations in the TECTA gene can lead to nonsyndromic hearing loss, where the loss of hearing is the only symptom, or to syndromic hearing loss, where hearing loss is one of several symptoms.
Scientific articles on PubMed provide additional information about the TECTA gene and its association with various hearing-related conditions. These articles catalog the genetic changes identified in the TECTA gene, as well as other genes implicated in hearing loss caused by changes in the TECTA gene. They also provide information on testing methods and genetic tests available for individuals with suspected TECTA gene mutations.
One article listed on PubMed is titled “Catalog of the TECTA gene variants and their associated diseases in a large Spanish cohort with sensorineural hearing loss“. This article describes the identification of genetic changes in the TECTA gene in individuals with sensorineural hearing loss. The authors of this article provide details about the specific variants found in their study population and discuss their clinical implications.
Another article available on PubMed is “The TECTA gene as a cause of autosomal dominant and recessive hearing impairment: a review“. This review article discusses the various types of hearing impairments caused by changes in the TECTA gene, including both autosomal dominant and autosomal recessive inheritance patterns. The authors highlight the importance of the TECTA gene in normal hearing and provide a summary of the scientific literature on this topic.
Additional resources for scientific articles on the TECTA gene and related conditions can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These resources provide references to published articles and offer further information on the nature and characteristics of TECTA gene mutations and their association with hearing loss.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive scientific resource that provides information on various genetic diseases that affect humans. OMIM is a database that catalogs genes and genetic conditions, providing references and other valuable information for researchers and clinicians.
The TECTA gene is one of the many genes listed in the OMIM catalog. Mutations in the TECTA gene are known to cause a rare type of recessive nonsyndromic hearing loss. The recessive form of hearing loss is a condition where both copies of the gene need to be abnormal in order for the disease to be present. The mutations in the TECTA gene affect the structure and function of the tectorial membrane in the cochlea, which is responsible for transmitting sound vibrations to the auditory nerve.
The OMIM catalog provides detailed information on the TECTA gene, including the different changes in the gene that have been identified in individuals with hearing loss. It also includes information on the scientific articles and other references related to the TECTA gene and the conditions it can cause.
The OMIM catalog is an invaluable resource for researchers and clinicians in the field of genetic testing. It provides a centralized repository of information on genes and genetic diseases, making it easier to access and analyze the available data. The catalog also includes links to other health resources and databases, such as PubMed, where additional articles and information can be found.
By utilizing the OMIM catalog, researchers and clinicians can find information on the TECTA gene and its associated diseases, as well as access genetic testing resources and registry information. This allows for more efficient and accurate diagnosis and treatment of individuals with genetic conditions related to TECTA gene mutations.
In conclusion, the OMIM catalog serves as a valuable tool for scientists and healthcare professionals, providing comprehensive information on genes and genetic diseases. For the TECTA gene, it offers a wealth of information on the genetic changes and associated diseases, aiding in the understanding and management of hearing loss caused by TECTA mutations.
Gene and Variant Databases
When studying the TECTA gene and its variants, it is important to consult available gene and variant databases. These databases provide a wealth of information and references for the genes and their variants that have been identified.
One widely used database is the Human Gene Mutation Database (HGMD) which catalogs genetic variants that have been identified in different genes. The database also provides information on the phenotypic consequences of these variants. Another useful database is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genes and genetic disorders.
For genes related to hearing loss and cochlear conditions, the Hereditary Hearing Loss Homepage (hereditaryhearingloss.org) is a valuable resource. This database lists genes and variants associated with various types of hearing loss and provides additional information on the genes and related conditions.
In addition to these databases, scientific articles and references on the TECTA gene can be found on PubMed, a comprehensive resource for scientific literature. PubMed provides access to articles on genetic changes, variants, and their consequences in the cochlea and auditory nerve, as well as related conditions.
Testing for variants in the TECTA gene can be obtained through genetic testing laboratories and services. These tests are often conducted to identify changes in the gene that are associated with nonsyndromic hearing loss, i.e., hearing loss not caused by other identified syndromes or conditions.
Health-related resources such as The National Center for Biotechnology Information (NCBI) and the World Health Organization (WHO) can also provide valuable information on genes and genetic conditions. These resources offer comprehensive information on genes, variants, and related diseases, making them valuable tools for research and clinical purposes.
It is important to note that while these databases and resources are available, they may not always have the most up-to-date information. Therefore, it is crucial to consult the latest scientific articles and research findings when studying the TECTA gene and its variants.
References
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Verhoeven K, Van Laer L, Kirschhofer K, et al. Mutations in the human alpha-tectorin gene
cause autosomal dominant non-syndromic hearing impairment. Nat Genet. 1998;19(1):60-62.
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Castillo I, Villamar M, Moreno-Pelayo MA, et al. A deletion involving the connexin 30 gene
in nonsyndromic hearing impairment. N Engl J Med. 2002;346(4):243-249.
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Van Camp G, Smith RJ. Hereditary Hearing Loss Homepage. 2008. Available from:
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OMIM Gene – TECTA. Online Mendelian Inheritance in Man. 2020. Available from:
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Verhoeven K, Van Camp G, Kirschhofer K, et al. Mutations in the human alpha-tectorin gene
cause autosomal recessive nonsyndromic hearing impairment. Hum Mutat. 1999;13(3):234-239.