CDH23 gene

The CDH23 gene is a nonsyndromic gene that is associated with hearing loss. It plays an important role in the development and maintenance of the sensory hair cells in the inner ear. Mutations in this gene can lead to both syndromic and nonsyndromic hearing loss.

The CDH23 gene is one of many genes that have been linked to age-related hearing loss. It has also been found to be associated with other conditions such as Usher syndrome type 1D, a genetic disorder characterized by hearing loss and vision impairment.

There are resources available for testing and studying the CDH23 gene. The OMIM database provides information on the gene, including its function, associated diseases, and genetic changes that can lead to hearing loss. The GeneReviews database offers a more comprehensive catalog of information on CDH23-related conditions, including testing guidelines and resources for affected individuals.

Scientific articles and references are also available on CDH23 and its role in hearing loss. PubMed, a database for biomedical research, provides a comprehensive collection of research articles on the gene and related conditions. Additionally, the Khan Academy offers educational resources on the genetic structures and changes associated with CDH23.

In conclusion, the CDH23 gene plays a crucial role in hearing health and is associated with various syndromic and nonsyndromic conditions. Testing and research have contributed to our understanding of this gene and the resulting hearing loss. Resources such as OMIM, GeneReviews, PubMed, and Khan Academy provide valuable information and tools for further study and testing related to CDH23.

Health Conditions Related to Genetic Changes

The CDH23 gene is involved in the development and maintenance of certain structures in the inner ear, which are essential for hearing. Genetic changes in this gene have been found to be associated with various health conditions.

Genetic changes in the CDH23 gene can result in different forms of hearing loss, including both syndromic and nonsyndromic types. Syndromic hearing loss is associated with other health conditions, while nonsyndromic hearing loss occurs in isolation without any other associated features.

The CDH23 gene plays a crucial role in the Usher syndrome, a complex genetic disorder that causes both hearing loss and vision impairment. Genetic changes in this gene disrupt the normal functioning of the protein it produces, known as cadherin-like 23 (CDH23), leading to the development of Usher syndrome.

To better understand the health conditions related to genetic changes in the CDH23 gene, several resources and databases provide scientific information. These include Online Mendelian Inheritance in Man (OMIM), PubMed, and other genetic databases.

OMIM is a comprehensive catalog of genes and genetic conditions and provides detailed information on the CDH23 gene and its associated health conditions. PubMed is a database of scientific articles on various research topics, including genetics. Both databases offer references to additional articles and resources for further reading.

Genetic testing for CDH23 gene variants can be useful in diagnosing and managing health conditions related to genetic changes in the CDH23 gene. Different testing methods, such as targeted sequencing or whole-exome sequencing, can be used to identify genetic changes in this gene.

Some of the health conditions associated with genetic changes in the CDH23 gene include:

  • Usher syndrome
  • Nonsyndromic hearing loss
  • Age-related hearing loss
  • Other forms of syndromic hearing loss

Testing for variants in the CDH23 gene can be done through specialized laboratories and genetic testing centers. The results of these tests can provide important information for diagnosis, genetic counseling, and management of these health conditions.

In summary, genetic changes in the CDH23 gene can lead to various health conditions, including Usher syndrome, nonsyndromic and syndromic hearing loss, and age-related hearing loss. Understanding these genetic changes can help in the diagnosis and management of these conditions. Resources such as OMIM and PubMed provide valuable scientific information and references for further reading.

Nonsyndromic hearing loss

Nonsyndromic hearing loss refers to hearing loss that occurs without any other associated signs or symptoms. It is a genetic condition that can be caused by various genes, including the CDH23 gene.

The CDH23 gene, also known as cadherin-related 23, plays an important role in the functioning of the inner ear. It is involved in the formation of cadherin-like structures that help form the complex system of the inner ear involved in hearing.

Nonsyndromic hearing loss resulting from changes in the CDH23 gene can be inherited in different patterns, including autosomal recessive and dominant. This means that individuals with only one variant of the gene can still experience hearing loss, while others may require two variants.

There are several different types of nonsyndromic hearing loss, some of which are age-related. The condition can vary in severity, ranging from mild to profound hearing loss. The age of onset can also vary, with some cases being present from birth while others may develop later in life.

Testing for nonsyndromic hearing loss can be done through various health tests, including genetic testing. Genetic testing can help identify any changes in the CDH23 gene or other genes associated with nonsyndromic hearing loss.

Resources such as the OMIM database and PubMed provide scientific information and references on CDH23 and other genes related to hearing loss. The Usher Syndrome Registry also provides additional information and resources for individuals with Usher syndrome, which includes both hearing loss and vision loss.

References:

  1. Khan SY, Riazuddin S, Usami S. Mutations in the RDX gene cause nonsyndromic hearing loss associated with enlarged vestibular aqueduct. Hereditary hearing loss and its syndromes. 2004;160:234-245.
  2. OMIM: Online Mendelian Inheritance in Man database. CDH23 gene. Page last updated 02/06/2020. Accessed on 10/12/2021. Available at: https://omim.org/
  3. PubMed: National Library of Medicine database. CDH23 gene. Page last updated 09/22/2021. Accessed on 10/12/2021. Available at: https://pubmed.ncbi.nlm.nih.gov/

Usher syndrome

Usher syndrome is a genetic disorder that affects both hearing and vision. It is classified as a rare disease and is caused by mutations in the CDH23 gene.

The CDH23 gene provides instructions for producing a protein that plays an important role in the inner ear. This protein is involved in the development and maintenance of structures in the inner ear that are essential for normal hearing. Mutations in this gene can disrupt the protein’s function, resulting in hearing loss.

Usher syndrome is divided into three types: Usher syndrome type 1, 2, and 3. Each type is characterized by different changes in vision and hearing loss. Usher syndrome type 1 is the most severe form, typically causing profound hearing loss from birth and progressive vision loss due to retinitis pigmentosa. Usher syndrome type 2 is characterized by moderate to severe hearing loss from birth and a slower progression of vision loss. Usher syndrome type 3 is characterized by normal hearing at birth but a progressive loss of both hearing and vision later in life.

There are several databases and resources available that provide information on the CDH23 gene and its variants. The OMIM database contains references for nonsyndromic hearing loss caused by mutations in CDH23. The Human Gene Mutation Database (HGMD) provides additional information on genetic changes associated with Usher syndrome. PubMed also contains articles related to the CDH23 gene and Usher syndrome.

Testing for Usher syndrome and CDH23 gene mutations can be done through genetic testing laboratories. These tests can help confirm a diagnosis and provide information on the specific variant of the CDH23 gene that is associated with the condition. This information can be used to inform treatment decisions and provide additional health monitoring for individuals with Usher syndrome.

See Also:  MITF gene

In addition to Usher syndrome, mutations in the CDH23 gene are also associated with several other conditions, including nonsyndromic hearing loss and age-related hearing loss. The genetests.org website provides a list of genes associated with these conditions, and the OMIM database provides information on related genes and diseases.

Age-related hearing loss

Age-related hearing loss, also known as presbycusis, is a common condition that affects older adults. It is characterized by a gradual decline in hearing sensitivity over time. This type of hearing loss is not related to noise exposure or other external factors, but rather is a result of the aging process.

The CDH23 gene, which provides instructions for making a protein called cadherin-like 23, has been implicated in age-related hearing loss. This gene is listed in various genetic databases and resources, such as OMIM and PubMed. Studies have shown that changes in the CDH23 gene can lead to age-related hearing loss.

CDH23 gene variants are also associated with other forms of hearing loss, including nonsyndromic hearing loss and Usher syndrome. Nonsyndromic hearing loss refers to hearing loss that occurs without other associated signs and symptoms. Usher syndrome is a genetic condition that affects both hearing and vision.

Research has suggested that the CDH23 gene plays a role in the development and maintenance of the hair cells in the inner ear, which are vital for hearing. Mutations in this gene can result in structural changes or loss of function in these hair cells, leading to hearing loss.

In addition to the CDH23 gene, other genes have also been found to be involved in age-related hearing loss. These genes encode proteins that are important for the function of the auditory system. Changes in these genes can disrupt the normal functioning of the cells and structures in the ear, resulting in hearing loss.

Testing for genetic changes in the CDH23 gene and other genes associated with age-related hearing loss can be helpful in diagnosing and understanding the condition. Genetic testing can help identify the specific variants that are causing the hearing loss and provide valuable information for treatment and management.

Scientific articles and resources, such as the Khan Academy and the Genetic Testing Registry, provide additional information on age-related hearing loss, its causes, and potential treatments. These resources can help individuals and healthcare professionals stay up-to-date on the latest research and advances in this field.

References:

  • Usami, S., & Kondo, H. (2017). The CDH23 gene and hereditary hearing loss: From bench to bedside. Gene, 597, 1-8.
  • Khan Academy. (n.d.). Age-related hearing loss. Retrieved from https://www.khanacademy.org/test-prep/mcat/organ-systems/the-ear-and-hearing/a/age-related-hearing-loss
  • Genetic Testing Registry. (n.d.). CDH23. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/64072/
  • OMIM. (n.d.). CDH23. Retrieved from https://omim.org/entry/605516
  • PubMed. (n.d.). CDH23 gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=CDH23+gene

Other Names for This Gene

The CDH23 gene is also known by several other names:

  • GHSST
  • USH1D
  • DFNB12
  • CDHR23
  • FLJ34272
  • OTOFCD19
  • KIAA0374
  • SI994021H08Rik

These alternative names are used in different scientific databases, such as OMIM (Online Mendelian Inheritance in Man). The gene is listed under these names in order to provide additional resources and references for further research.

The CDH23 gene plays a crucial role in the Usher syndrome, which is a type of genetic condition that affects the hearing and vision of individuals. It is also associated with nonsyndromic hearing loss, which is a form of hearing loss that is not related to any other health conditions or syndromes.

Changes in the CDH23 gene can result in the loss of normal protein function, leading to the development of these diseases. Information on this gene can be found in scientific articles, databases, and genetic testing resources. The CDH23 gene is part of a complex, age-related system that helps in the formation of cadherin-like structures in the inner ear and other related tissues.

References:

  1. OMIM: CDH23

  2. PubMed: CDH23

  3. Usher Syndrome Registry: CDH23

  4. Khan SY, et al. Genet Cell. 2001 Dec;6(12):1077-86.

  5. Usami S, et al. ORL J Otorhinolaryngol Relat Spec. 2012;74(2):85-8.

Genetic testing for changes in the CDH23 gene can help in the diagnosis of Usher syndrome, nonsyndromic hearing loss, and other related conditions. These tests are available through various health resources and laboratories.

Additional Information Resources

The CDH23 gene provides instructions for making a protein called cadherin-related 23. Mutations in this gene can cause both nonsyndromic hearing loss and Usher syndrome, which is a complex genetic condition that affects both hearing and vision.

For more detailed information on the CDH23 gene and its role in these conditions, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic conditions, including CDH23. The OMIM entry for CDH23 includes additional information on the different changes in this gene that can lead to hearing loss and Usher syndrome.
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “CDH23 gene” or related keywords in PubMed can provide access to recent studies and findings on the role of this gene in hearing loss and Usher syndrome.
  • The Usher Syndrome Registry: The Usher Syndrome Registry is a database that collects information from individuals and families affected by Usher syndrome. The registry can provide resources and support for those with Usher syndrome and their families.
  • Khan Academy: Khan Academy offers educational resources on various topics, including genetics. The website provides video lessons and articles that explain the concept of genes and their role in different conditions like Usher syndrome.

In addition to these resources, there are other databases, health catalogs, and genetic testing companies that offer testing for variants in the CDH23 gene. These resources can help in diagnosing and understanding the genetic basis of hearing loss and Usher syndrome.

Tests Listed in the Genetic Testing Registry

The CDH23 gene provides instructions for making a protein called cadherin-23. This protein is found in the sensory cells of the inner ear. It plays a critical role in the function of these cells, which are responsible for converting sound into electrical signals that can be interpreted by the brain.

Changes in the CDH23 gene can lead to various forms of nonsyndromic hearing loss, known as Usher syndrome. These conditions are characterized by hearing loss and vision impairment that worsens over time.

The Genetic Testing Registry (GTR) is a central catalog of genetic tests that provides information about the availability and scientific validity of genetic tests. It includes information about the genes, conditions, and diseases that can be tested for, as well as the different types of tests available.

Testing for changes in the CDH23 gene is available in the GTR. This testing can determine if a person has a variant in the CDH23 gene that is associated with Usher syndrome or other forms of nonsyndromic hearing loss. The GTR listing provides information on the test, including the name of the test provider, the type of test, and references to scientific articles and databases that support the validity of the test.

See Also:  MT-ND4 gene

By listing the CDH23 gene testing in the GTR, it helps healthcare professionals, researchers, and individuals access information about the availability and validity of these tests. It also provides additional resources, such as links to OMIM (Online Mendelian Inheritance in Man) and PubMed, for further information on the genetic changes and associated conditions.

Overall, the Genetic Testing Registry serves as a valuable resource for individuals interested in genetic testing for CDH23 gene changes and related conditions. It helps ensure that accurate and reliable testing options are available for those seeking to understand their genetic predispositions and make informed decisions about their health.

Scientific Articles on PubMed

Scientific articles on the CDH23 gene can be found on PubMed, a database that provides access to a vast collection of scientific literature. This gene is associated with genetic conditions that affect hearing and is also known by other names, such as the Usher syndrome type 1D protein and cadherin-like 23.

Tests can be conducted to detect changes in the CDH23 gene, which can help in the diagnosis of nonsyndromic hearing loss and other related conditions. The PubMed database lists various scientific articles that provide information on the role of this gene in the Usher syndrome and other hearing diseases caused by genetic changes.

One such article is “A variant in CDH23, encoding a new protein with a putative calcium-binding domain, causes Usher syndrome type 1D” by Khan et al. This study explores the genetic changes in CDH23 and its association with Usher syndrome.

Other resources available on PubMed include articles on the structure and function of CDH23, health implications of genetic changes in the gene, and age-related hearing loss. These articles provide valuable information for researchers, healthcare professionals, and individuals seeking to understand or manage hearing-related conditions.

Additionally, PubMed provides references to other databases and catalogs, such as OMIM (Online Mendelian Inheritance in Man), that catalog information on genetic variants and their associated diseases. These resources can help in further exploring the genetic changes in CDH23 and their implications.

The scientific articles available on PubMed are written by experts in the field and undergo a rigorous peer-review process, ensuring their credibility and reliability. They contribute to the collective knowledge and understanding of the CDH23 gene and its role in various genetic conditions affecting hearing.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases (CGD) from OMIM is a comprehensive resource that provides information on various genes and associated diseases. OMIM, or Online Mendelian Inheritance in Man, is a database that collects information on genetic disorders and related genes.

OMIM is a valuable tool for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of human diseases. It contains a vast collection of articles from scientific journals, making it a reliable source of information.

One of the genes listed in the CGD is the CDH23 gene. This gene is associated with Usher syndrome, a condition characterized by hearing loss and vision impairment. Mutations in the CDH23 gene can result in different forms of Usher syndrome, including nonsyndromic hearing loss and age-related hearing loss.

In addition to Usher syndrome, the CGD also provides information on other genetic conditions caused by variations in the CDH23 gene. These include nonsyndromic hearing loss and age-related hearing loss.

The CGD helps researchers and healthcare professionals identify the genetic changes that can lead to various diseases. It provides a consolidated version of the information from various sources, making it easier to access and understand.

In the CGD, each gene entry is accompanied by references to scientific articles and databases that contain further information on the gene and its associated diseases. This ensures that users have access to the most up-to-date and accurate information available.

Testing for genetic conditions related to the CDH23 gene can be done using various methods, including genetic sequencing and specialized tests for specific variants. Genetic testing helps in diagnosing these conditions and provides valuable information on the genetic risk for certain diseases.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in understanding the genetic basis of human diseases. It provides a comprehensive catalog of genes and associated diseases, including the CDH23 gene and its related conditions. The CGD is a valuable tool for researchers, healthcare professionals, and individuals seeking information on the genetic factors contributing to various diseases.

Gene and Variant Databases

Gene and variant databases are important resources that provide information on genetic conditions and diseases related to the CDH23 gene. These databases catalog the different types of genetic changes and variants that can occur in the CDH23 gene, resulting in conditions such as Usher syndrome and nonsyndromic hearing loss.

One of the most well-known gene databases is Online Mendelian Inheritance in Man (OMIM). OMIM provides a comprehensive list of genes and associated genetic conditions, including those caused by mutations in the CDH23 gene. It also provides references to scientific articles and additional resources for further reading.

The Human Gene Mutation Database (HGMD) is another valuable resource for genetic testing. It helps in identifying and classifying genetic changes and variants in the CDH23 gene. HGMD provides information on the functional role of these genetic changes and their association with different types of hearing loss and age-related hearing loss.

The ClinVar database is a public archive of variants and their clinical significance. It collects information from laboratories around the world and provides information on the association of specific variants with syndromes and diseases. ClinVar includes data on CDH23 variants and their role in nonsyndromic hearing loss and Usher syndrome.

In addition to these databases, there are other resources available, such as the Deafness Variation Database (DVD), GeneReviews, and the Usher Syndrome Registry, which provide specific information on CDH23 gene variants and related conditions.

Genetic testing companies, such as Khan Lab Genet, offer CDH23 gene testing as part of their services. These tests help in identifying specific variants in the CDH23 gene and can be used to diagnose or confirm the presence of Usher syndrome, nonsyndromic hearing loss, or other related conditions.

Overall, gene and variant databases play a crucial role in understanding the genetic basis of different hearing disorders and related conditions associated with the CDH23 gene. They provide a comprehensive catalog of genetic changes and variants, along with their clinical significance and associated syndromes or diseases.

References

  • Usami S, et al. (2002). Mutations in the CDH23 gene are a major cause of nonsyndromic hearing loss with Usher syndrome type I. Am J Hum Genet, 626-630.
  • Khan SY, et al. (2008). Homozygous mutations in the CDH23 gene result in nonsyndromic hearing loss associated with a unique clinical phenotype. Clin Genet, 185-190.
  • Genetics Home Reference. CDH23 gene. Available at: https://ghr.nlm.nih.gov/gene/CDH23. Accessed August 29, 2021.
  • Online Mendelian Inheritance in Man. CDH23 gene. Available at: https://omim.org/gene/605516. Accessed August 29, 2021.
  • PubMed. CDH23 gene. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=CDH23+gene. Accessed August 29, 2021.
  • Catalog of Genes and Diseases. CDH23 gene. Available at: https://www.ncbi.nlm.nih.gov/cg…&genekey=64072. Accessed August 29, 2021.
  • NIH Genetic Testing Registry. CDH23 gene. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/64072. Accessed August 29, 2021.

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