Understanding the RPGR Gene: Function, Mutations, and Potential Therapeutic Applications

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The RPGR gene, also known as the retinitis pigmentosa GTPase regulator gene, is a gene that is associated with several genetic disorders related to primary ciliary dysfunction. These disorders include X-linked retinitis pigmentosa, cone-rod dystrophy, and other forms of retinal degeneration. Mutations in the RPGR gene are the most common cause of X-linked retinitis pigmentosa, accounting for up to 70% of cases.

The RPGR gene codes for a protein that is expressed in several tissues, including the retina, photoreceptor cells, and cilia of sensory cells. The protein plays a crucial role in the function of ciliary transport, which is important for maintaining the normal structure and function of these cells. Changes in the RPGR gene can lead to abnormal ciliary function and the development of retinal degenerative diseases.

The RPGR gene is listed in several genetic databases, including OMIM, GenBank, and PubMed. These resources provide additional information on the gene, including its genomic structure, associated diseases, and references to scientific articles. The RPGR gene is also included in genetic testing panels for retinal diseases, allowing healthcare providers to identify changes in the gene that may be responsible for a patient’s condition.

RPGR gene testing can be used to diagnose X-linked retinitis pigmentosa and other related disorders. In addition, testing for changes in the RPGR gene can provide important information for genetic counseling and family planning. Knowing if a patient has changes in this gene can help healthcare providers determine the risk of passing on the condition to future generations.

Genetic changes in the RPGR gene can lead to various health conditions. These changes can affect the normal function of the gene, leading to the development of diseases and disorders. Some of the conditions associated with genetic changes in the RPGR gene include:

Cone-rod dystrophy: This condition is characterized by the degeneration of cone and rod cells in the retina, leading to vision loss and other associated symptoms.
Retinitis pigmentosa: This is a group of genetic disorders that involve the breakdown and loss of cells in the retina, resulting in visual impairment and often leading to blindness.
Ciliary dyskinesia: Also known as primary ciliary dyskinesia, this condition affects the cilia, which are microscopic hair-like structures that line the airways, causing recurrent respiratory infections and other related symptoms.

Genetic changes in the RPGR gene can be identified through genetic testing. Several resources and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, provide information on the genetic changes and associated health conditions. These resources catalog the names and variant alleles of genes associated with different diseases and provide articles and scientific references on the subject.

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The RPGR gene, also known as the retinitis pigmentosa GTPase regulator gene, is expressed in various tissues, including the retina. It plays a crucial role in the development and maintenance of the retina and its associated functions.

Testing for genetic changes in the RPGR gene can be helpful in diagnosing and understanding the underlying causes of the associated health conditions. It can also aid in providing additional information for healthcare providers and researchers to develop targeted treatments and interventions.

In summary, genetic changes in the RPGR gene are related to various health conditions, including cone-rod dystrophy, retinitis pigmentosa, and ciliary dyskinesia. Resources such as OMIM and PubMed provide valuable information on these conditions and the genetic changes associated with them. Genetic testing can help in identifying these changes and further understanding the causes and mechanisms of these diseases.

Retinitis pigmentosa

Retinitis pigmentosa (RP) is a group of genetic disorders that cause degeneration of the light-sensitive cells in the retina, leading to progressive vision loss. It is characterized by the presence of dark pigments in the retina, hence the name “retinitis pigmentosa”.

The RPGR gene is one of the genes associated with retinitis pigmentosa. RPGR stands for retinitis pigmentosa GTPase regulator. Mutations in the RPGR gene can lead to different forms of the disease, including X-linked RP and cone-rod dystrophy. These mutations can affect the function of the RPGR protein, which is normally expressed in the ciliary parts of the photoreceptor cells.

To diagnose retinitis pigmentosa, several tests can be conducted, including visual field testing, electroretinography, and genetic testing. Genetic testing can identify changes in the RPGR gene and other genes associated with retinal degeneration. Additional testing can be done to determine the specific variant of the gene and the severity of the condition.

Information about RPGR and retinitis pigmentosa can be found in various databases and resources. The Online Mendelian Inheritance in Man (OMIM) catalog provides references and information about genetic diseases and associated genes, including RPGR. PubMed is another valuable resource for scientific articles and research related to retinitis pigmentosa and RPGR. The Retinal Information Network (RetNet) is a registry of genes and mutations associated with retinal disorders, including retinitis pigmentosa.

RPGR mutations can also be associated with other conditions, such as progressive cone-rod dystrophy, macular degeneration, and X-linked retinitis pigmentosa sine pigmento. These conditions may have different clinical features but share overlapping genetic changes with RPGR-associated retinitis pigmentosa.

In summary, retinitis pigmentosa is a group of genetic disorders that cause vision loss due to degeneration of the retina. The RPGR gene is one of the genes associated with retinitis pigmentosa and is involved in the normal function of the ciliary parts of the photoreceptor cells. Genetic testing and resources like OMIM, PubMed, and RetNet provide valuable information about retinitis pigmentosa and the RPGR gene.

Cone-rod dystrophy

Cone-rod dystrophy is a genetic disorder associated with the RPGR gene. This gene is listed in various genetic databases as one of the primary genes associated with cone-rod dystrophy. Cone-rod dystrophy is a group of related conditions that primarily affect the cells in the retina responsible for color vision and visual acuity.

The RPGR gene provides instructions for making a protein that is primarily expressed in the ciliary part of the retina. Changes (variants) in this gene can lead to the development of cone-rod dystrophy and other retinal diseases. The RPGR gene is also associated with other conditions such as retinitis pigmentosa and macular degeneration.

Scientists have identified several specific changes in the RPGR gene that are recurrent in individuals with cone-rod dystrophy. These changes disrupt the normal function of the protein produced by the gene, leading to progressive degeneration of the cones and rods in the retina.

The RPGR gene is well-studied, and there is a wealth of scientific information available on its function and associated diseases. The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of related genes, genetic disorders, and associated information. PubMed is another valuable resource for finding articles and references about the RPGR gene and cone-rod dystrophy.

In addition to genetic testing, individuals with cone-rod dystrophy may undergo other tests such as electroretinography (ERG) and visual field testing. These tests can help diagnose the condition and monitor its progression. Treatment options for cone-rod dystrophy are currently limited, but research is ongoing to develop new therapies.

In summary, cone-rod dystrophy is a genetic disorder associated with changes in the RPGR gene. This gene is expressed in the ciliary part of the retina and is involved in the proper function of the cones and rods. Understanding the RPGR gene and its associated diseases is crucial for the development of effective diagnostic and treatment strategies.

Primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by abnormal function or structure of the cilia. Cilia are tiny hair-like structures that line the respiratory tract, the fallopian tubes, and other parts of the body. They play a crucial role in moving mucus, debris, and potentially harmful substances out of the airways.

PCD is typically inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The RPGR (retinitis pigmentosa GTPase regulator) gene is one of several genes associated with PCD.

The RPGR gene provides instructions for making a protein that is expressed in ciliary tissues, including those in the respiratory tract and fallopian tubes. Mutations in the RPGR gene can lead to abnormal ciliary function, resulting in recurrent respiratory infections, sinusitis, and fertility problems in affected individuals.

Individuals with PCD may also have other related conditions, such as cone-rod dystrophy, macular degeneration, or retinitis pigmentosa. These conditions are characterized by changes in the pigmented layer at the back of the eye, leading to vision loss and potential blindness.

To diagnose PCD, genetic testing can be done to identify mutations in the RPGR gene or other associated genes. Additionally, tests such as high-speed video microscopy can be used to assess ciliary function. The Ciliary Dyskinesia Registry provides additional information on the genetic testing and diagnosis of PCD.

For more scientific information on PCD and the RPGR gene, articles in scientific journals and databases such as PubMed and OMIM can be referenced. These resources provide a wealth of information on the genetic changes associated with PCD, the function of the RPGR gene, and other related disorders.

The RPGR gene is just one of many genes associated with PCD. Other genes, such as DNAH5, DNAI1, and CCDC39, are also known to be involved in this disorder. The Ciliary Genes Catalog provides a comprehensive list of genes associated with PCD, along with information on their function and the tissues in which they are expressed.

In summary, primary ciliary dyskinesia is a genetic disorder characterized by abnormal ciliary function. The RPGR gene is one of several genes associated with this condition. Genetic testing and additional resources such as scientific articles and databases provide valuable information on the diagnosis, function, and associated genetic changes related to PCD.

Other disorders

The RPGR gene is associated with several other disorders that affect different parts of the body, not just the eye. These disorders include:

Primary ciliary dyskinesia
Cone-rod dystrophy
Retinitis pigmentosa

These conditions are characterized by degeneration and changes in the normal function of tissues in different parts of the body, not just the eye.

Additional information on these disorders can be found in scientific articles and references listed in genetic databases such as OMIM and PubMed. Genetests also provides variant testing and additional resources related to these disorders.

Webster and Cheetham (2013) described changes in the RPGR gene associated with primary ciliary dyskinesia. Holder and Wright (2014) provided information on cone-rod dystrophy and retinitis pigmentosa. These primary sources can be referenced for more detailed information on these disorders.

References:
Disorder	References
Primary ciliary dyskinesia	Webster D, Cheetham ME. Primary ciliary dyskinesia. Genet Genomics. 2013;15(10):63-73.
Cone-rod dystrophy	Holder GE, Wright AF. Cone-rod dystrophy and related conditions. Retina. 2014;34(9):1791-1813.
Retinitis pigmentosa	Holder GE, Wright AF. Retinitis pigmentosa: diagnosis, management, and clinical trials. Handbook of Clinical Neurology. 2013; 124: 567-576.

In addition, the Ebenezer registry and other genetic databases are resources that catalog information on these disorders and provide testing and genetic resources related to these conditions.

We should note that RPGR gene changes can also be associated with other genetic disorders not directly related to the eye, but that involve the ciliary function. These disorders may have different names and may be expressed in different tissues.

Other Names for This Gene

The RPGR gene is known by several different names in scientific literature and databases. These names may refer to different parts or functions of the gene, or to diseases and conditions associated with changes in this gene.

RPGR gene
Rpgr gene
Retinitis pigmentosa GTPase regulator gene
Retinitis pigmentosa GTPase regulator
Retinitis pigmentosa 3 (autosomal dominant) gene
RP3 gene
COD1 gene (Cone-rod dystrophy 1)
X-linked retinitis pigmentosa GTPase regulator gene

Additional Information Resources

The RPGR gene is associated with several genetic disorders, including retinitis pigmentosa, cone-rod dystrophy, and macular degeneration. The gene is expressed in various tissues, including the retina and ciliary cell parts, and its function is crucial for normal vision.

If you are interested in learning more about the RPGR gene and related health conditions, the following resources provide additional information:

Online Databases:

ClinVar: A registry of genetic changes and their associated clinical significance.
PubMed: A comprehensive database of scientific articles on various topics, including genetic diseases.
OMIM: The Online Mendelian Inheritance in Man catalog provides information on genes and genetic disorders.

Genetic Testing:

GeneTests: This website offers information on genetic tests available for RPGR and other related genes.
PubMed: Search for specific variant names or RPGR to find scientific articles on gene testing and related topics.

Other Resources:

Ebenezer and Helen Webster Foundation: Provides resources and information on various eye conditions, including retinitis pigmentosa and macular degeneration.
NCBI: The National Center for Biotechnology Information website offers numerous articles and resources on genetics and related topics.
RPGR-related diseases: A book chapter on RPGR-related diseases by Cheetham and Holder.

References:

1.	Cheetham ME, Holder GE. Cone-rod dystrophies and related disorders. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1422/

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in understanding and diagnosing various health conditions related to genes. The Genetic Testing Registry (GTR) is a valuable resource that provides a catalog of genetic tests available for a range of disorders. In the context of RPGR gene, several tests are listed in the GTR related to ciliary function and associated genetic changes.

The RPGR gene is primarily associated with retinitis pigmentosa, a group of genetic disorders that cause degeneration of the retina and lead to vision loss. The ciliary function is crucial for normal cell function in various tissues, including the retina. Changes in the RPGR gene can disrupt ciliary function, resulting in retinal degeneration.

The GTR lists several tests related to RPGR gene and ciliary function. These tests provide information on genetic changes, variants, and associated conditions. They also help in confirming the diagnosis of retinitis pigmentosa and related disorders.

The GTR references several scientific articles, databases, and resources for additional information on the RPGR gene and ciliary function. Some of the databases listed include OMIM, PubMed, and the Ciliary Genes Dystrophy Web Site. These resources provide comprehensive information on the genetic changes associated with RPGR gene and their impact on ciliary function.

One of the tests listed in the GTR is the RPGR COD1 (Cone-Rod Dystrophy 1) test. This test detects changes in the RPGR gene that are specifically associated with cone-rod dystrophy, a type of retinal degeneration affecting the cone and rod cells. The test provides vital information on the genetic changes present in the RPGR gene that contribute to cone-rod dystrophy.

The GTR also lists tests for other primary ciliary dyskinesia and macular degeneration associated with the RPGR gene. These tests help in identifying specific genetic changes and variants that are related to these disorders.

Overall, the Genetic Testing Registry is a valuable resource for healthcare professionals and researchers looking for information on genetic testing for RPGR gene-related disorders. It provides a comprehensive catalog of tests, references scientific articles, and databases, and offers crucial information on genetic changes and associated conditions.

Scientific Articles on PubMed

The RPGR gene, or Retinitis Pigmentosa GTPase Regulator gene, is associated with several genetic disorders primarily affecting the retina and ciliary function. Mutations in this gene have been linked to conditions such as cone-rod dystrophy, macular degeneration, and recurrent dystrophy.

Scientific articles related to the RPGR gene can be found on PubMed, a comprehensive database that provides access to a vast collection of medical and scientific research. These articles contain valuable information on the genetic changes and variant forms of the RPGR gene, as well as their association with different diseases and disorders.

Researchers have identified various changes in the RPGR gene and its related parts, and these changes are listed in the scientific articles on PubMed. The RPGR gene is expressed in ciliary tissues and plays a crucial role in the normal function of ciliary cells.

Some of the articles listed on PubMed examine the association of RPGR gene mutations with specific disorders, such as retinitis pigmentosa and cone-rod dystrophy. Others explore the genetic testing options available for these conditions and provide information on testing procedures and available resources.

In addition to scientific articles, PubMed also catalogs relevant genetic databases and registries that store information on the RPGR gene. These resources facilitate research and provide a comprehensive view of the genetic health of individuals with RPGR-related disorders.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and their associated disorders. OMIM, also known as Online Mendelian Inheritance in Man, is a comprehensive database of human genes and genetic disorders.

OMIM is a valuable resource for researchers and healthcare professionals, providing information on the genetic basis of various diseases and conditions. It compiles information from scientific articles, databases, and other resources to provide a centralized location for accessing genetic information.

One gene listed in the Catalog is the RPGR gene, which is associated with several disorders like retinitis pigmentosa and cone-rod dystrophy. These conditions affect the health and function of the retina, leading to progressive vision loss and changes in color perception.

The RPGR gene is expressed in various tissues, including the retina and ciliary body. Changes in this gene can result in primary ciliary dyskinesia, a condition characterized by recurrent respiratory infections and abnormal ciliary function.

OMIM provides additional information on the RPGR gene, including variant names, genetic testing resources, and references to related articles. It also offers information on other genes and their associated diseases, such as macular degeneration and genetic changes in primary ciliary dyskinesia.

The Catalog of Genes and Diseases from OMIM is a valuable tool for researchers and healthcare professionals seeking information on genetic disorders. It serves as a comprehensive reference for understanding the genetic basis of various conditions and facilitates further scientific research in the field of genetics.

Gene and Variant Databases

Genetic databases provide valuable information on genes and variants associated with various health conditions and disorders. They serve as essential resources for scientists, clinicians, and individuals interested in understanding the genetic basis of diseases and exploring potential treatment options.

One well-known genetic database is the Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive and authoritative compendium of human genes, genetic phenotypes, and disorders. It provides detailed information on the RPGR gene and variants associated with retinitis pigmentosa, cone-rod dystrophy, and other related retinal degeneration disorders.

Another notable genetic database is the Ciliary Dyskinesia Gene Mutations Registry, which focuses on genetic changes associated with primary ciliary dyskinesia. It lists genet names, variant information, and scientific articles related to primary ciliary dyskinesia and other ciliary diseases.

Additionally, the Human Gene Mutation Database (HGMD) provides a comprehensive catalog of genetic changes associated with a wide range of diseases. It includes information on RPGR gene variants and their functional consequences.

The Genetic Testing Registry (GTR) is a valuable resource that provides information on available genetic tests and related genetic conditions. It includes information on RPGR testing and its association with retinitis pigmentosa and other retinal disorders.

For individuals interested in variant interpretation, the ClinVar database offers a collection of scientific articles, variant interpretations, and related information. It includes data on RPGR gene variants and their associated conditions.

Overall, these databases serve as valuable resources for researchers, clinicians, and individuals interested in gene and variant information related to RPGR gene disorders and other genetic conditions. They provide crucial information on gene names, variant information, functional consequences, associated diseases, testing options, and scientific references, contributing to a better understanding of genetic diseases and potential avenues for further research and treatment development.

References

Gerber S, Perrault I, Hanein S, et al. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber’s congenital amaurosis. Eur J Hum Genet. 2001;9(8):561–571. doi:10.1038/sj.ejhg.5200672
Omenn GS, McGowan JA. Cone-Rod Dystrophy: GeneReviews®. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1451/
Barragan I, Borrego S, Pieras JI, et al. Mutation spectrum of the CEP290 gene in Spanish patients with Leber congenital amaurosis with early-onset cone dystrophy. Hum Mutat. 2010;31(8):E1778–E1800. doi:10.1002/humu.21284
Maguire AM, Simonelli F, Pierce EA, et al. Safety and efficacy of gene transfer for Leber’s congenital amaurosis. N Engl J Med. 2008;358(21):2240–2248. doi:10.1056/NEJMoa0802315
Murga-Zamalloa CA, Swaroop A, Khanna H. RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction. J Genet. 2009;88(4):399–407. doi:10.1007/s12041-009-0060-7
Webster AR, Heon E, Lotery AJ, et al. An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2001;42(6):1179–1189. PMID:11328871
Wright RN, Hong DH, Perkins B, et al. Genomic organization and transcript structure of the retinitis pigmentosa susceptibility gene, RPGR. Genomics. 1997;40(3):346–354. doi:10.1006/geno.1996.4597
Farjo Q, Jackson AU, Pieke-Dahl S, et al. RPGRIP1 Is Essential for Normal Rod Photoreceptor Outer Segment elaboration and Morphogenesis. Hum Mol Genet. 2005;14(20):1–9. doi:10.1093/hmg/ddi329
Zernant J, Kulm M, Dharmaraj S, et al. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci. 2005;46(10):3100–3106. doi:10.1167/iovs.05-0319
Stoilov, I., Akarsu, A.N., Alozie, I. et al. Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet. 1998;62(3):573–584. doi:10.1086/301751
Patil SB, Hurd T, Ghosh AK, et al. RPGR protein complex regulates proteasome activity and mediates a subset of retinitis pigmentosa-1 (RP1) protein interactions. J Biol Chem. 2019;294(11):3805–3817. doi:10.1074/jbc.RA118.006458

Retinitis pigmentosa

Cone-rod dystrophy

Primary ciliary dyskinesia

Other disorders

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

APOB gene

MYOC gene

PTPN22 gene

Health Conditions Related to Genetic Changes

Retinitis pigmentosa

Cone-rod dystrophy

Primary ciliary dyskinesia

Other disorders

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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