PDE6B gene

The PDE6B gene is a part of the retinitis pigmentosa disease, which is a group of genetic diseases that cause changes in the functioning of the photoreceptor cells in the retina. Retinitis pigmentosa is characterized by night blindness and progressive degeneration of the retina, leading to loss of peripheral vision and eventually central vision.

PDE6B encodes the beta-subunit of cyclic guanosine monophosphate (cGMP)-specific phosphodiesterase, an enzyme crucial for the regulation of cGMP levels in the photoreceptor cells. Mutations in the PDE6B gene can lead to a variant of retinitis pigmentosa called congenital stationary night blindness, which is an autosomal recessive condition characterized by night blindness and abnormal electroretinogram responses.

In scientific articles and databases, the PDE6B gene is often referred to by other names, such as RP40, RCD1, and RP73. Additional information on the PDE6B gene and related diseases can be found in resources such as OMIM, PubMed, and the Genetic Testing Registry.

Health Conditions Related to Genetic Changes

The PDE6B gene is part of the phosphodiesterase 6 (PDE6) enzyme complex, which plays a crucial role in the visual signal transduction cascade in the retina. Genetic changes in the PDE6B gene can lead to various health conditions, particularly those affecting vision.

One of the most well-known conditions related to mutations in the PDE6B gene is retinitis pigmentosa (RP). RP is a group of inherited disorders characterized by the progressive degeneration of the retina, resulting in night blindness and tunnel vision. Mutations in the PDE6B gene can cause both autosomal dominant and autosomal recessive forms of RP.

Congenital stationary night blindness (CSNB) is another condition associated with genetic changes in the PDE6B gene. CSNB is a disorder that impairs night vision but does not usually lead to complete blindness. Mutations in the PDE6B gene can cause both autosomal recessive and autosomal dominant forms of CSNB.

Genetic testing for changes in the PDE6B gene can help diagnose these conditions and provide valuable information for medical management. Various resources are available for testing, including genetic testing laboratories, scientific databases, and health registries. The Catalog of Genes and Diseases (CGD) and PubMed are two references that provide additional information on genetic changes in the PDE6B gene and related health conditions.

It is important to note that genetic changes in the PDE6B gene may not be the only cause of these health conditions, as there can be other genes and factors involved. Consultation with healthcare professionals and genetic specialists can help determine the appropriate tests and provide accurate diagnosis and management strategies.

References:

• “PDE6B phosphodiesterase 6B [Homo sapiens (human)]” – Gene – NCBI. Retrieved from https://www.ncbi.nlm.nih.gov/gene/5145
• “Phosphodiesterase, cGMP-specific, beta-subunit (PDE6B)” – OMIM – NCBI. Retrieved from https://www.ncbi.nlm.nih.gov/omim/180072
• “Retinitis pigmentosa” – Genetics Home Reference – NIH. Retrieved from https://ghr.nlm.nih.gov/condition/retinitis-pigmentosa
• “Congenital stationary night blindness” – Genetics Home Reference – NIH. Retrieved from https://ghr.nlm.nih.gov/condition/congenital-stationary-night-blindness
• “PDE6B” – Atlas of Genetics and Cytogenetics in Oncology and Haematology. Retrieved from http://atlasgeneticsoncology.org/Genes/PDE6BID108.html

Autosomal dominant congenital stationary night blindness

Autosomal dominant congenital stationary night blindness (ADCSNB) is a genetic condition that affects the vision in low light conditions, particularly at night. It is a rare disorder that is characterized by the impaired ability of the retina to respond to light, resulting in night blindness.

ADCSNB is caused by mutations in the PDE6B gene, which provides instructions for making the beta-subunit of the phosphodiesterase enzyme. This enzyme plays a crucial role in the visual signaling pathway within the retina, specifically in the regulation of cyclic guanosine monophosphate (cGMP) levels. Mutations in the PDE6B gene lead to changes in the function of the enzyme, which disrupts the normal transmission of visual signals in the retina.

This condition is inherited in an autosomal dominant pattern, which means that a person with ADCSNB has a 50% chance of passing the condition on to each of their children.

Diagnosis of ADCSNB is typically based on clinical findings, family history, and specialized vision tests. Genetic testing can be used to confirm the diagnosis and identify the specific genetic variant involved.

Treatment for ADCSNB primarily focuses on managing symptoms and maximizing visual function. This may involve the use of visual aids, such as glasses or contact lenses, to improve visual acuity and contrast sensitivity. Additionally, individuals with ADCSNB should avoid situations with low light and take precautions to reduce the risk of accidents or injuries related to impaired night vision.

There are several resources available for individuals and their families affected by ADCSNB. The National Institutes of Health (NIH) maintains a registry of genetic conditions and provides information on ADCSNB through their Online Mendelian Inheritance in Man (OMIM) catalog. Scientific articles related to ADCSNB can also be found on PubMed, a database of biomedical literature.

Resources for Autosomal Dominant Congenital Stationary Night Blindness:

Resource	Description
Online Mendelian Inheritance in Man (OMIM)	Provides comprehensive information on gene names, genetic conditions, and references for further research.
PubMed	A database of scientific articles related to genetic disorders, including ADCSNB.
NIH Genetic Testing Registry	A catalog of genetic tests and laboratories that offer testing for a wide range of genetic conditions.

It is important for individuals with ADCSNB to work closely with healthcare professionals, such as geneticists and ophthalmologists, to receive appropriate care and support. These professionals can provide guidance on available treatments, genetic counseling, and resources for managing the condition effectively.

Retinitis pigmentosa

Retinitis pigmentosa is a group of genetic diseases that affect the retina, causing progressive vision loss. It is characterized by changes in the retinal pigment epithelium, retinal photoreceptor cells, and retinal capillaries. Retinitis pigmentosa is primarily a congenital disease, with symptoms usually appearing in early childhood or adolescence.

Retinitis pigmentosa is often inherited in an autosomal dominant or autosomal recessive pattern. Mutations in the PDE6B gene, which encodes the beta-subunit of the cGMP-specific phosphodiesterase, are a common cause of retinitis pigmentosa. Variants in this gene can result in the loss of normal function of the beta-subunit, leading to night blindness and progressive vision loss.

Retinitis pigmentosa is listed in the Online Mendelian Inheritance in Man (OMIM) catalog as a genetic disease. Other related conditions, such as stationary night blindness, are also listed in the OMIM catalog. The OMIM catalog provides detailed information on the genetic basis of retinitis pigmentosa and related conditions, as well as additional resources and references for further scientific research.

Testing for mutations in the PDE6B gene and other genes associated with retinitis pigmentosa can be done through genetic testing laboratories and commercial testing services. These tests can provide important information about the genetic basis of the disease and help guide treatment decisions.

The Retinitis Pigmentosa International Registry is a valuable resource for individuals and families affected by retinitis pigmentosa. The registry provides information on the latest research, clinical trials, and support services for individuals with retinitis pigmentosa.

In conclusion, retinitis pigmentosa is a group of genetic diseases characterized by progressive vision loss and night blindness. Mutations in the PDE6B gene and other genes associated with retinitis pigmentosa can result in the loss of normal retinal function. Genetic testing and resources such as the OMIM catalog and the Retinitis Pigmentosa International Registry can provide valuable information and support for individuals and families affected by this condition.

Other Names for This Gene

The PDE6B gene is also known by other names:

• Retinitis pigmentosa 40 (RP40)
• RP40 autosomal recessive (RP40AR)
• RP, congenital stationary (RCS)
• Rod monochromacy 1 (RMCH1)
• Rod monochromacy, type 1 (RMC1)
• Retinitis pigmentosa 40, autosomal dominant (RP40AD)
• CGMP-specific phosphodiesterase beta-subunit (PDEB) gene

These alternative names for the PDE6B gene reflect the various diseases and conditions that are related to changes or mutations in this gene.

Additional information about this gene can be found in scientific articles and databases:

• OMIM: Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders.
• PubMed: PubMed is a database of scientific articles and references.
• GeneReviews: GeneReviews is a resource that provides expert-authored, peer-reviewed articles on genetic conditions and genes.
• Night Blindness: This is a condition characterized by difficulty seeing in low light or at night.
• Retinitis Pigmentosa: Retinitis pigmentosa is a group of genetic disorders that affect the retina and can lead to vision loss and blindness.

Testing for changes or mutations in the PDE6B gene can be done through genetic testing services and laboratories. These tests can help diagnose genetic conditions and provide valuable information for medical management and treatment.

Genetic testing for the PDE6B gene may be recommended for individuals with symptoms or a family history of night blindness, retinitis pigmentosa, or other related conditions. Testing may also be part of a genetic registry or research study.

For more information on the PDE6B gene, including scientific articles and references, resources such as OMIM and PubMed can provide in-depth information and further scientific exploration.

Other Genes Associated with Retinitis Pigmentosa

Gene Name	Other Names
PDE6A	CGMP phosphodiesterase, alpha subunit
RHO	Rhodopsin
RPE65	Retinal pigment epithelium-specific protein 65kDa

These genes, along with PDE6B, are involved in the regulation of photoreceptor cells in the retina and are associated with various forms of retinitis pigmentosa and related conditions.

Additional Information on the PDE6B Gene

For additional information on the PDE6B gene and related conditions, the following resources can be helpful:

• PubMed: A scientific database that provides access to a vast collection of articles on genetics and related topics. It is a valuable resource for finding research papers and studies related to the PDE6B gene, retinitis pigmentosa, and other genetic diseases.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions. It includes detailed descriptions of genes, variant changes, and associated diseases.
• Clinical Testing: For individuals seeking genetic testing for PDE6B gene mutations, clinical testing laboratories can provide information on specific tests available and the process for testing.
• Genetic Counseling: Genetic counselors are healthcare professionals who specialize in providing information and support to individuals and families affected by genetic conditions. They can offer guidance on genetic testing options, understanding test results, and managing the condition.
• Retinitis Pigmentosa (RP) Registry: The RP Registry is a database that collects and stores information about individuals diagnosed with retinitis pigmentosa. It can provide valuable information on the prevalence of specific gene mutations and their associated symptoms.

These resources provide a wealth of information on the PDE6B gene, retinitis pigmentosa, and related conditions. They can help individuals and healthcare professionals stay up-to-date with the latest scientific research, genetic testing options, and available support services.

Tests Listed in the Genetic Testing Registry

Genetic testing is an important tool for diagnosing and understanding genetic conditions. The Genetic Testing Registry (GTR) is a database that provides information on genetic tests, including those related to the PDE6B gene. The PDE6B gene is associated with the beta-subunit of phosphodiesterase, a dominant gene that can cause various eye diseases.

The GTR lists a number of tests that can detect changes in the PDE6B gene. These tests are used to diagnose conditions such as autosomal dominant retinitis pigmentosa, autosomal recessive retinitis pigmentosa, and congenital stationary night blindness.

The GTR provides additional information about each test, including its purpose, methodology, and clinical utility. It also lists references to scientific articles and resources for further information. These resources can be invaluable for researchers, healthcare professionals, and individuals seeking information on genetic testing for PDE6B-related conditions.

In addition to the GTR, there are other databases and resources that provide information on genetic testing for PDE6B-related conditions. PubMed and OMIM are two examples of scientific databases that contain articles and information on genetic testing for various diseases, including those related to the PDE6B gene.

The information provided in these databases can help researchers and healthcare professionals stay up-to-date on the latest advancements in genetic testing for PDE6B-related conditions. It can also provide individuals with valuable resources and references for further information on these conditions.

References:

• The Genetic Testing Registry (GTR). Retrieved from: https://www.ncbi.nlm.nih.gov/gtr/
• PubMed. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/
• OMIM. Retrieved from: https://www.omim.org/

Scientific Articles on PubMed

The PDE6B gene encodes the beta-subunit of phosphodiesterase 6 (PDE6), a cGMP-specific enzyme that is a part of the phototransduction cascade in the retina. Mutations in this gene have been associated with autosomal recessive retinitis pigmentosa (RP), a genetic condition causing night blindness and progressive vision loss.

There are several scientific articles available on PubMed that provide information on the PDE6B gene and its role in retinitis pigmentosa. Some of the key references include:

• “Constitutively active rhodopsin mutants causing night blindness are effectively phosphorylated by GRKs but differ in arrestin-1 binding” – This article discusses the functional changes caused by specific mutations in the PDE6B gene and their impact on the development of congenital stationary night blindness.

• “Clinical utility gene card for: Retinitis Pigmentosa” – This gene card provides a comprehensive overview of the PDE6B gene, including information on the associated diseases, inheritance pattern, and testing methods. It also lists additional resources for further reading and genetic testing.

• “Autosomal dominant retinitis pigmentosa” – This review article explores the genetic and phenotypic characteristics of autosomal dominant retinitis pigmentosa and mentions PDE6B as one of the genes associated with this condition.

These articles are a valuable source of information for researchers and healthcare professionals interested in studying the role of the PDE6B gene in retinitis pigmentosa. They provide insights into the genetic changes, clinical manifestations, and diagnostic testing for this condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genes and genetic diseases. It serves as a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of various conditions.

Among the genes listed in the OMIM catalog is the PDE6B gene, which encodes the beta-subunit of the phosphodiesterase 6 (PDE6) enzyme. Mutations in the PDE6B gene have been associated with various eye disorders, including retinitis pigmentosa and congenital stationary night blindness.

Retinitis pigmentosa is a group of genetic conditions that lead to progressive degeneration of the retina, resulting in vision loss. Congenital stationary night blindness is a condition characterized by impaired night vision, which remains stable over time.

OMIM provides detailed information on each gene and the associated diseases. It includes the gene name, alternate names, gene function, and a comprehensive list of references to scientific articles and other resources for further reading.

For individuals interested in genetic testing, OMIM also provides information on available tests for each gene and associated conditions. This includes information on laboratory tests, such as DNA sequencing, that can identify specific changes or variants in the gene.

OMIM is part of a network of related databases and resources, including PubMed, Genet Med, and the Human Gene Mutation Database. These resources provide additional information and support for researchers and healthcare professionals.

Overall, the OMIM catalog serves as a valuable tool for understanding the genetic basis of various diseases. It provides comprehensive information on genes, associated diseases, and available testing resources, making it a valuable resource for researchers, clinicians, and individuals interested in genetic health.

Gene and Variant Databases

The PDE6B gene is a genetic subunit of the cGMP-specific phosphodiesterase (PDE6) for the stationary beta-subunit. Mutations in this gene can cause autosomal recessive retinitis pigmentosa (RP40), an inherited condition that leads to progressive vision loss and eventually blindness at night.

For genetic testing and information on other related genes and conditions, the following gene and variant databases are valuable resources:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic diseases. It provides up-to-date information on the PDE6B gene and its associated conditions, including retinitis pigmentosa. OMIM also lists scientific articles and references related to the gene.
• PubMed: PubMed is a database of scientific articles and publications. It can be used to search for articles related to the PDE6B gene, retinitis pigmentosa, and other genetic diseases. PubMed provides additional information on the latest research and discoveries in the field.
• GeneTests: GeneTests is a part of the National Center for Biotechnology Information (NCBI) and provides a comprehensive list of genetic tests offered for various genetic conditions, including retinitis pigmentosa. This resource can help individuals find laboratories that offer testing for the PDE6B gene and provides information on the availability and accuracy of these tests.
• Registry of Retinal Degeneration (RD): The RD is a brain-inspired data resource and registry for researchers and clinicians studying retinal degenerative diseases, including retinitis pigmentosa. It collects and curates genetic and clinical information from patients and their families to facilitate research and advancements in the field.
• Genetests – Clinical Database: Genetests Clinical Database provides clinical information on genetic conditions and the genes involved. It includes information on autosomal recessive retinitis pigmentosa and the PDE6B gene, including clinical features, diagnostic tests, and genetic counseling resources.

These databases offer invaluable resources for researchers, clinicians, and individuals seeking information on the PDE6B gene, associated genetic conditions, and available genetic testing options. They provide a wealth of information and references to scientific articles, allowing for a deeper understanding of the gene and its role in diseases such as retinitis pigmentosa.

References

The following resources were used to compile the information in this article:

1. OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on genes, genetic variants, and related diseases. The entry for the PDE6B gene provides detailed information on the autosomal dominant congenital stationary night blindness and retinitis pigmentosa caused by changes in this gene. Visit the OMIM PDE6B gene page for more information.

2. PubMed: The PubMed database contains a vast collection of scientific articles related to various genetic conditions, including those associated with the PDE6B gene. Search for relevant articles on retinitis pigmentosa and congenital stationary night blindness using the PubMed website.

3. GeneTests: The GeneTests website provides information on genetic tests, including those for retinitis pigmentosa and congenital stationary night blindness. Check the GeneTests registry for available tests related to the PDE6B gene.

4. Genetic and Rare Diseases Information Center (GARD): GARD provides reliable information on rare diseases, including those caused by changes in the PDE6B gene. Search for retinitis pigmentosa and congenital stationary night blindness on the GARD website for additional information.

5. NightstaRx: NightstaRx is a clinical-stage gene therapy company dedicated to developing treatments for inherited retinal diseases, such as those associated with the PDE6B gene. Their website provides information on ongoing clinical trials and potential treatment options. Visit the NightstaRx website to learn more.

Please note that this is not an exhaustive list of resources, and additional databases and articles may provide further information on the PDE6B gene and related conditions.