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The Usher syndrome type 2A (USH2A) gene is one of the genes associated with Usher syndrome, a group of inherited conditions that cause both hearing and vision loss. Usher syndrome is characterized by hearing loss, retinitis pigmentosa (a progressive vision disorder), and in some cases, balance issues. There are several subtypes of Usher syndrome, with type 2A being one of the most common.

The USH2A gene is responsible for providing instructions for making a protein called usherin. This protein plays an important role in the maintenance of both the normal structure and function of the sensory cells in the auditory and visual systems. When there are changes or mutations in the USH2A gene, it can lead to the production of a malfunctioning usherin protein, resulting in the signs and symptoms of Usher syndrome type 2A.

Genetic testing is available to identify mutations in the USH2A gene. This testing can be helpful in confirming a diagnosis of Usher syndrome type 2A and providing information about the specific gene variant involved. It can also be used for carrier testing and prenatal diagnosis in families with a known USH2A gene mutation.

Resources for additional information about the USH2A gene and Usher syndrome can be found in various databases, such as OMIM (Online Mendelian Inheritance in Man), GENET, and PubMed. These databases provide access to scientific articles, clinical registry information, and other relevant resources for researchers, healthcare professionals, and individuals seeking more information on Usher syndrome and related conditions.

A number of articles on USH2A gene mutations and their associated diseases, such as retinitis pigmentosa, have been published in scientific literature. These articles can be found in PubMed and provide valuable insights into the genetic changes and clinical manifestations of Usher syndrome type 2A.

In summary, the USH2A gene is associated with Usher syndrome type 2A, a recessive inherited syndrome characterized by hearing loss and retinitis pigmentosa. Mutations in this gene can lead to the production of a malfunctioning usherin protein, causing the symptoms of Usher syndrome type 2A. Genetic testing and resources such as databases and scientific articles provide valuable information on this gene and its role in maintaining normal sensory functions.

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The USH2A gene, also known as usherin, is associated with several health conditions. These conditions are caused by genetic changes or variations in the USH2A gene. The gene is listed in the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genes and genetic conditions.

One form of genetic change in the USH2A gene is associated with Usher syndrome, a condition characterized by deafness and vision loss, specifically retinitis pigmentosa. Usher syndrome is a recessive genetic disorder that affects both hearing and vision.

The USH2A gene codes for the usherin protein, which is involved in the development and maintenance of sensory cells in the inner ear and retina. Changes in this gene can lead to abnormalities in these cells, resulting in the symptoms associated with Usher syndrome.

There are various genetic tests that can identify changes in the USH2A gene. These tests can be performed using DNA samples obtained from individuals suspected of having Usher syndrome or other related health conditions.

Information on genetic changes in the USH2A gene and their associated health conditions can be found in scientific articles and databases such as PubMed and OMIM. These resources provide references to articles that discuss the clinical features, testing, and management of Usher syndrome and other conditions related to changes in the USH2A gene.

In addition to the resources mentioned above, central databases and registries dedicated to specific health conditions, such as retinitis pigmentosa and Usher syndrome, also provide information on the genetic changes in the USH2A gene and their impact on health.

It is important for healthcare professionals and individuals to stay updated with the latest research and information on the USH2A gene and related health conditions. This knowledge can inform genetic testing, clinical management, and treatment options for individuals affected by changes in the USH2A gene.

Retinitis pigmentosa

Retinitis pigmentosa is a genetic condition that affects the cells in the retina, leading to progressive vision loss. It is often associated with changes in the USH2A gene, which is one of the genes listed in the Usher gene databases. Retinitis pigmentosa can occur in both syndromic and non-syndromic forms.

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The USH2A gene provides instructions for making a protein called usherin, which plays a role in the maintenance of the retina. Variants in this gene can disrupt the normal function of usherin and lead to the development of retinitis pigmentosa.

There are several resources available for genetic testing and information on retinitis pigmentosa and related conditions. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are useful for finding scientific articles and references on retinitis pigmentosa and other genetic diseases. The Usher Syndrome Registry and Usher Gene Databases provide additional information on usher genes and related conditions.

Testing for retinitis pigmentosa can involve genetic testing to identify variants in genes associated with the condition, including the USH2A gene. Clinical tests such as visual field testing and electroretinography (ERG) may also be used to assess vision function and diagnose retinitis pigmentosa.

In summary, retinitis pigmentosa is a genetic condition that leads to progressive vision loss. Changes in the USH2A gene are often associated with this condition. Genetic testing, clinical tests, and resources such as the Usher Syndrome Registry and OMIM can provide further information on retinitis pigmentosa and related conditions.

Usher syndrome

Usher syndrome is a genetic condition that affects both hearing and vision. It is named after the British ophthalmologist Charles Usher who first described the syndrome in the early 20th century. The syndrome is characterized by sensorineural hearing loss and retinitis pigmentosa, a degenerative eye disorder that leads to progressive vision loss.

There are three types of Usher syndrome: type 1, type 2, and type 3. The classification is based on the severity of hearing loss and the age of onset of vision problems. Usher syndrome is usually inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Usher syndrome type 2 is the most common form of the syndrome. It is usually characterized by moderate to severe hearing loss and a later onset of vision problems compared to type 1. Mutations in the USH2A gene are the most common cause of Usher syndrome type 2. The USH2A gene provides instructions for making a protein called usherin, which plays a role in the maintenance of specialized cells in the retina and inner ear.

To diagnose Usher syndrome, genetic tests can be performed to detect changes in the USH2A gene or in other genes associated with the syndrome. These tests can help confirm the diagnosis and provide information about the specific genetic variant causing the condition. Clinical tests for hearing and vision loss, such as audiograms and electroretinograms, can also be conducted to assess an individual’s sensory impairments.

There are several resources available for individuals and families affected by Usher syndrome. The Usher Syndrome Registry is a centralized catalog of information and resources for individuals with Usher syndrome and related conditions. Other resources include scientific articles and references on PubMed, as well as databases and information on recognized genetic testing laboratories.

Overall, Usher syndrome is a complex genetic condition that affects both hearing and vision. It is important for individuals with Usher syndrome and their families to seek appropriate medical care and support. Ongoing research and advancements in genetic testing and therapy hold promise for improving the management and treatment of this condition.

Other Names for This Gene

The USH2A gene is also known by several other names:

  • Usher syndrome type 2A
  • RP39
  • USH2
  • DFNB31
  • Usherin

These names are used to describe the same gene and its associated protein. The USH2A gene is responsible for the production of usherin, a protein that plays a crucial role in the maintenance of photoreceptor cells in the retina.

Usher syndrome type 2A is a genetic condition characterized by progressive vision loss. It is a recessive disorder, meaning that both copies of the USH2A gene must have changes (mutations) for the condition to occur.

Information about the USH2A gene, its associated conditions, and testing resources can be found in various scientific databases and genetic registries. These databases contain detailed clinical and genetic information, as well as references to related articles and tests.

Some of the databases and resources that provide information on the USH2A gene and usher syndrome include:

  • Online Mendelian Inheritance in Man (OMIM)
  • The Usher Syndrome Registry
  • PubMed (a database of scientific articles)
  • GeneTests

By studying the USH2A gene and the protein it produces, researchers and healthcare professionals aim to better understand the genetic changes associated with usher syndrome and related conditions. This knowledge can lead to improved diagnostic testing methods, treatment options, and management strategies for individuals with these vision disorders.

Further research is needed to fully elucidate the role of the USH2A gene in central vision maintenance, as well as to identify additional genetic changes and forms of usher syndrome.

Additional Information Resources

For additional information on the USH2A gene and Usher Syndrome, the following resources are available:

  • Pubmed: A database of scientific articles that can be searched for information on the USH2A gene, Usher Syndrome, and related conditions such as retinitis pigmentosa.
  • OMIM: Online Mendelian Inheritance in Man, a comprehensive database that provides information on genes and genetic disorders, including the USH2A gene.
  • Usher Syndrome Registry: A registry for individuals with Usher Syndrome that collects and maintains information on genetic variants and changes associated with the condition.
  • Genetic Testing: Various genetic testing laboratories offer tests for mutations in the USH2A gene to diagnose Usher Syndrome and related disorders.
  • Health Databases: Websites such as Genetic Testing Form, Catalog of Tests, and Usher Gene Testing that provide information on available tests for Usher Syndrome and related diseases.
  • Scientific Articles: Several scientific articles, including those authored by Zhao et al., provide in-depth information on the USH2A gene and its association with Usher Syndrome.
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These resources can provide additional references and information on the USH2A gene, its protein product usherin, and the role it plays in the maintenance of normal vision. It is important to consult these resources to stay informed about the latest research and developments in understanding Usher Syndrome and related conditions.

Tests Listed in the Genetic Testing Registry

Genetic testing is an important tool in understanding the role of the USH2A gene and its associated conditions. The following tests are listed in the Genetic Testing Registry:

  • Tests for changes in the USH2A gene: These tests analyze the DNA sequence of the USH2A gene to identify any genetic variants or changes that may be associated with conditions such as Usher syndrome, retinitis pigmentosa, and other genetic diseases.
  • Tests for changes in the USH2A protein: These tests focus on analyzing the protein produced by the USH2A gene and can help determine if any changes in the protein structure or function are present.
  • Tests for genetic variants associated with Usher syndrome: Usher syndrome is a genetic condition characterized by both hearing and vision loss. Testing for genetic variants in the USH2A gene can help diagnose Usher syndrome and guide appropriate treatment and management.
  • Tests for genetic variants associated with retinitis pigmentosa: Retinitis pigmentosa is a progressive eye disorder that affects the retina. Testing for genetic variants in the USH2A gene can help identify individuals at risk for retinitis pigmentosa and guide appropriate interventions.
  • Tests for genetic variants associated with other related conditions: The USH2A gene has been linked to a range of other conditions affecting vision and hearing, including certain forms of pigmentosa and central vision loss. Genetic testing can provide valuable information about these conditions and guide treatment decisions.

In addition to the tests listed above, the Genetic Testing Registry provides resources for health professionals and individuals seeking additional information on genetic testing for USH2A gene-related conditions. These resources include references to scientific articles, clinical trials, and databases such as OMIM and PubMed.

It is important to note that genetic testing should be done under the guidance of a healthcare professional trained in genetics. The results of genetic testing can have significant implications for an individual’s health and well-being, and should be interpreted and discussed in the context of a comprehensive medical evaluation.

Scientific Articles on PubMed

The USH2A gene encodes a protein that is involved in maintaining the health and function of cells in the retina, which are critical for vision. Mutations in this gene are associated with Usher syndrome, a rare genetic condition characterized by both hearing and vision loss.

Several scientific articles related to the USH2A gene can be found on PubMed, a database of scientific publications in the field of health and life sciences. These articles provide valuable information on the role of the gene in various diseases and conditions, including Usher syndrome and retinitis pigmentosa.

Testing for variations or changes in the USH2A gene can be used for clinical diagnosis of Usher syndrome and related conditions. Additional tests, such as DNA sequencing, can help identify specific mutations in the gene.

Usher syndrome is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the condition. Testing for USH2A gene variants can be useful for carrier testing in individuals with a family history of Usher syndromes or related conditions.

The USH2A gene is also known by other names, such as Usherin, and is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, a comprehensive resource for genetic information on inherited conditions.

References to scientific articles on the USH2A gene can be found in various databases, such as PubMed and OMIM. These articles provide important insights into the molecular and cellular changes associated with Usher syndrome and other related conditions.

The USH2A gene has been extensively studied due to its association with Usher syndrome and its role in maintaining normal vision. Researchers have identified various mutations in this gene that contribute to the development of the disorder.

A registry of genetic variants in the USH2A gene, maintained by Dr. Junhui Zhao, provides a comprehensive catalog of these mutations and their associated clinical characteristics. This resource can be a valuable tool for researchers and clinicians studying Usher syndrome and related conditions.

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In summary, scientific articles on PubMed provide a wealth of information on the USH2A gene and its association with Usher syndrome and related conditions. These articles, along with resources like the OMIM catalog and the USH2A genetic variant registry, can help advance our understanding of the molecular basis of these diseases and contribute to the development of new diagnostic tests and treatments.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of human diseases.

OMIM maintains a database that includes information on over 25,000 genes and more than 15,000 diseases. The database is constantly updated with new scientific findings and discoveries.

One of the genes listed in the OMIM database is the USH2A gene. Mutations in this gene are associated with Usher syndrome type 2A, a genetic condition characterized by hearing loss and vision impairment. In particular, changes in the USH2A gene can lead to retinitis pigmentosa, a progressive degenerative disorder affecting the retina and causing vision loss.

The OMIM catalog provides detailed information on the function of each gene, the specific genetic changes associated with diseases, and the clinical manifestations of these conditions. In the case of USH2A, the catalog provides information on the structure and function of the usherin protein encoded by this gene, as well as the inheritance pattern of Usher syndrome type 2A (autosomal recessive).

For those interested in genetic testing, the OMIM catalog also provides information on the availability of diagnostic tests for specific conditions. In the case of USH2A-related conditions, the catalog lists several laboratories and clinics that offer genetic testing for mutations in the USH2A gene.

In addition to genetic testing resources, OMIM also provides links to related articles on PubMed, a database of scientific publications. These PubMed references offer additional scientific information on the USH2A gene and its role in various diseases and conditions.

Overall, the OMIM catalog serves as a valuable tool for researchers, clinicians, and individuals interested in understanding the genetic basis of human health and disease. By providing a comprehensive and up-to-date catalog of genes and diseases, OMIM facilitates research and clinical care in the field of genetics.

References:

Gene and Variant Databases

Gene and variant databases are valuable resources that provide references and information on genetic changes associated with specific genes and conditions. They play a crucial role in understanding the genetic basis of diseases and in the development of clinical tests for diagnosis and management.

One such gene that is extensively studied is the USH2A gene. Mutations in this gene are associated with Usher syndrome type 2A, a recessive genetic disorder characterized by hearing loss and vision impairment. Specifically, mutations in the USH2A gene can lead to retinitis pigmentosa, a condition that causes progressive vision loss.

The databases catalog and provide information on the different variants of the USH2A gene that have been identified. These databases include scientific articles, information from the Online Mendelian Inheritance in Man (OMIM) registry, as well as other genetic databases like PubMed. They list the names and details of the genetic changes associated with the USH2A gene and provide additional information on the variants.

Testing for mutations in the USH2A gene is available in several laboratories, and these databases are crucial in guiding such testing. They provide resources for clinicians, researchers, and genetic counselors to access the latest information on the gene and its associated conditions. The databases also play a role in the maintenance of variant databases, ensuring that the most up-to-date information is available for clinical testing and research.

Additionally, these databases are not limited to the USH2A gene. They cover a wide range of genes and genetic conditions, providing valuable information on different genetic changes associated with various diseases. This information aids in the understanding of genetic variations and their impact on human health.

In summary, gene and variant databases are essential resources that provide information on genetic changes associated with specific genes and conditions. In the context of the USH2A gene, these databases offer information on the variants linked to Usher syndrome type 2A and retinitis pigmentosa. They aid in clinical testing, research, and the overall understanding of genetic variations and their effects on health and vision.

References

  • Usher Syndrome Type 2A (USH2A) Gene Tests. Retinitis Pigmentosa Overview. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/USH2A#resources.
  • Usher Syndrome Type 2A (USH2A) Testing. The Usher Syndrome Type 2A Gene. Usher Syndrome Coalition. Retrieved from https://www.usher-syndrome.org/our-genes/usher-genes/usher-14-ush2a.html.
  • Usher Syndrome Type II. The Unified Carrier Registration (UCR) Program. National Organization for Rare Disorders (NORD). Retrieved from https://rarediseases.org/rare-diseases/usher-syndrome-type-ii/.
  • Usher Syndrome, Type 2A; USH2A. OMIM Foundation. Retrieved from https://www.omim.org/entry/276901.
  • Zhao, Y., Elzen, C. L. T., & Boon, C. J. F. The Genetic Spectrum of Usher Syndrome in the Dutch Population. Inadv Genet Eng Biotechnol. 2019; 2(2): 1-9. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6313984/.
  • Usher Syndrome Type 2A. PubMed Central (PMC). Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=usher%20syndrome&type=%E2%80%8B.

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