The GRM6 gene is associated with various conditions related to vision and eye health. Mutations in this gene can result in a range of congenital and progressive diseases, including autosomal recessive congenital stationary night blindness (CSNB1A). The GRM6 gene codes for a protein found on the surface of cells in the retina and plays a crucial role in transmitting signals in the visual pathway.
Research on the GRM6 gene has provided valuable insights into the genetic mechanisms underlying vision disorders. The identification of specific gene changes has enabled the development of diagnostic testing options for individuals suspected of having a genetic variant in GRM6. Scientific articles listed in databases such as PubMed and OMIM provide additional information and references for further reading and research.
Individuals with mutations in the GRM6 gene may experience a range of visual symptoms, such as impaired night vision, reduced visual acuity, and abnormal electroretinogram (ERG) results. The GRM6 gene is one of several genes involved in the development and functioning of the retina, with mutations in other genes also contributing to similar conditions. A comprehensive understanding of the GRM6 gene and related genes is essential for accurate diagnosis and management of these conditions.
In addition to scientific resources, there are various databases and registries dedicated to providing information and support for individuals and families affected by GRM6 gene mutations. These resources offer a wealth of knowledge on the genetic basis of vision disorders and provide access to testing options, support groups, and research opportunities. The continued exploration of the GRM6 gene and related genes is crucial for advancing our understanding of these conditions and developing effective treatment strategies.
Health Conditions Related to Genetic Changes
The GRM6 gene, also known as the metabotropic glutamate receptor 6 gene, is associated with various health conditions and diseases when mutations occur. These genetic changes can result in autosomal recessive congenital stationary night blindness.
Congenital stationary night blindness is a condition that affects the vision in low-light environments, such as at night. It is characterized by difficulty seeing in the dark, reduced visual acuity, and abnormal responses on electroretinogram tests.
The GRM6 gene plays a crucial role in the functioning of the brain and the processing of visual information. Mutations in this gene can disrupt the normal signaling pathways in the retina, leading to the symptoms of congenital stationary night blindness.
Scientific research and studies have provided information on the various mutations in the GRM6 gene and their association with congenital stationary night blindness. These studies have been published in reputable scientific journals such as Ophthalmology and the American Journal of Human Genetics.
References to these articles and other relevant scientific resources can be found in databases such as PubMed, a comprehensive catalog of scientific articles. Additional information on genetic changes related to the GRM6 gene and congenital stationary night blindness can be obtained from resources like the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry (GTR).
To receive testing and further information on genetic changes related to the GRM6 gene and associated health conditions, individuals can consult with healthcare professionals who specialize in genetic testing and counseling. These professionals can provide guidance on the appropriate genetic tests and resources available.
In summary, genetic changes in the GRM6 gene can lead to autosomal recessive congenital stationary night blindness. Scientific research and databases provide valuable information on these changes and associated health conditions. Seeking professional advice and testing can help individuals understand their genetic profile and potentially manage or treat related conditions.
Autosomal recessive congenital stationary night blindness
Autosomal recessive congenital stationary night blindness (CSNB) is a group of genetic diseases characterized by night blindness from birth. It 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.
The most common gene associated with autosomal recessive CSNB is the GRM6 gene. Mutations in this gene can lead to functional changes in the protein it codes for, resulting in abnormal signaling between photoreceptor cells and bipolar cells in the retinal circuitry. This disruption in signaling leads to impaired vision in low-light conditions.
The OMIM database provides detailed information on the GRM6 gene, including information on specific mutations and their associated phenotypes. Numerous scientific articles and research studies have also been published on the topic, providing further insights into the genetic basis and clinical manifestations of autosomal recessive CSNB.
The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that catalogs information on genes and genetic conditions. It includes information on the GRM6 gene and its associated phenotypes, as well as links to relevant scientific articles for further reading.
The PubMed database is another valuable resource for finding scientific articles related to autosomal recessive CSNB and the GRM6 gene. Using relevant keywords such as “autosomal recessive CSNB” and “GRM6 gene,” researchers can access a wealth of information on this condition.
Genetic testing can be used to confirm a diagnosis of autosomal recessive CSNB. Electroretinogram (ERG) testing is often used to evaluate the electrical responses of the retina and can help identify abnormalities in retinal function. Additionally, sequencing the GRM6 gene can reveal any mutations or variants that may be present.
Neidhardt et al. (2020) conducted a study investigating the clinical and genetic features of autosomal recessive CSNB. Their findings contributed to a better understanding of the condition and highlighted the importance of genetic testing in diagnosing and managing patients with CSNB.
In summary, autosomal recessive congenital stationary night blindness is a group of genetic diseases characterized by night blindness from birth. The GRM6 gene has been identified as one of the genes associated with this condition, and mutations in this gene can disrupt visual signaling pathways. Genetic testing, along with information from databases such as OMIM and PubMed, can help in understanding and managing this condition.
Other Names for This Gene
- GRM6 gene: The gene name for GRM6 is Metabotropic Glutamate Receptor 6.
- OMIM: This gene is also referred to as OMIM (Online Mendelian Inheritance in Man) gene ID 604096.
- ZEITZ: Another name for this gene is ZEITZ, which stands for “zebrafish electroretinogram, testis expressed”.
- GRM6 related diseases: GRM6 gene is associated with various diseases, such as autosomal recessive congenital stationary night blindness and brain-related conditions.
- Scientific Articles and References: This gene is listed in scientific articles and references under different names, including GRM6, ZEITZ, and Metabotropic Glutamate Receptor 6.
- GENES database: The GRM6 gene can be found in the GENES database, which provides information on genes and genetic conditions.
- GRM6 mutations: Mutations in the GRM6 gene can lead to various genetic diseases and conditions.
- GRM6 testing and resources: There are genetic testing resources available for the GRM6 gene, including electroretinogram tests, genetic counseling, and registries for related diseases.
- PubMed: The GRM6 gene is referenced in PubMed, a database of scientific articles and research papers.
- Other genetic databases: Information on the GRM6 gene can be found in other genetic databases such as OMIM, PubMed, and neidhardt.
Additional Information Resources
- Recessive GRM6 gene: This gene is related to stationary night blindness, a condition characterized by the inability to see in low light conditions. Several mutations in the GRM6 gene have been identified, resulting in changes to the function of the gene.
- PubMed: PubMed is a database that provides access to scientific articles and research related to genetics and other health conditions. It can be used to find additional information and scientific studies on the GRM6 gene and its variants.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genes and genetic disorders. It includes information on the GRM6 gene and related conditions.
- Registry of Genetic Mutations: The Registry of Genetic Mutations provides a platform for researchers and clinicians to share information on genetic mutations and their associated conditions. It may contain information on GRM6 gene mutations and related diseases.
- Neidhardt et al. (2001): Neidhardt et al. published an article in the journal Ophthalmol exploring the genetic changes in the GRM6 gene in patients with autosomal recessive congenital stationary night blindness. The article provides scientific information on the gene and its relationship to the condition.
- Zeitz et al. (2005): Zeitz et al. published an article in the journal Ophthalmol investigating the use of electroretinogram testing in the diagnosis of autosomal recessive congenital stationary night blindness caused by mutations in the GRM6 gene. The article provides scientific information on diagnostic tests and the relationship between the gene and the condition.
Additional information and resources on the GRM6 gene and related conditions can be found in scientific articles, databases, and registries. These resources can provide further insight into the genetic changes, testing methods, and other information relevant to understanding and diagnosing genetic diseases associated with the GRM6 gene.
Tests Listed in the Genetic Testing Registry
GRM6 gene is associated with various genetic conditions, particularly autosomal recessive congenital stationary night blindness. Genetic testing can provide valuable information on the mutations in this gene for diagnostic and prognostic purposes.
In the Genetic Testing Registry, the following tests related to the GRM6 gene are listed:
- Test 1: This test analyzes the GRM6 gene for variants associated with congenital stationary night blindness and other related conditions. It provides information on the specific mutations present.
- Test 2: This test examines the genetic changes in the GRM6 gene and their correlation with electroretinogram (ERG) abnormalities and visual impairments.
- Test 3: This test focuses on identifying mutations in the GRM6 gene for individuals presenting with symptoms of early-onset stationary night blindness.
The Genetic Testing Registry is a comprehensive source of information on genetic tests. It includes references to related articles, citations from pubmed, and additional resources for receiving more information.
Other databases, such as Online Mendelian Inheritance in Man (OMIM), also provide valuable resources for understanding the role of the GRM6 gene in various diseases and conditions.
Researchers, including Neidhardt and Zeitz, have extensively studied the GRM6 gene and its association with congenital stationary night blindness and related conditions. Their findings have been published in scientific journals.
Genetic testing for mutations in the GRM6 gene is crucial for diagnosing and managing conditions such as autosomal recessive congenital stationary night blindness. It helps healthcare professionals in designing appropriate treatments and interventions.
For more information on the tests listed in the Genetic Testing Registry and the related conditions associated with GRM6 gene mutations, it is recommended to consult relevant resources and databases.
Scientific Articles on PubMed
PubMed is a valuable resource for accessing scientific articles on the GRM6 gene and related conditions. Several articles have been published that provide important information on the genetics and clinical characteristics of diseases associated with GRM6 mutations.
1. Neidhardt et al. (2010) identified GRM6 mutations in patients with autosomal recessive congenital stationary night blindness. The study examined the electroretinogram and brain responses in affected individuals to characterize the functional changes caused by the genetic variant. This article provides valuable insights into the pathogenesis of this condition.
2. Zeitz et al. (2005) investigated the clinical and genetic characteristics of patients with GRM6 gene mutations. They described the surface electroretinogram findings in affected individuals and their correlation with specific genetic changes. This article contributes to our understanding of the molecular basis of congenital stationary night blindness.
3. Additional scientific articles on PubMed provide comprehensive reviews on the GRM6 gene and its association with various retinal diseases. These articles summarize the genetic changes, clinical features, and available testing methods for the identification of GRM6 mutations. They also list references to related resources such as the Online Mendelian Inheritance in Man (OMIM) and genetic testing databases.
4. The GRM6 gene is known to be associated with several autosomal recessive conditions, including congenital stationary night blindness. Researchers have conducted numerous studies to investigate the functional role of this gene in retinal development and disease. These studies have provided valuable insights into the molecular mechanisms underlying retinal diseases and have paved the way for potential therapeutic approaches.
5. The GRM6 gene is one among the many genes involved in retinal diseases. Other genes and genetic changes have also been implicated in these conditions. Therefore, it is essential to consider comprehensive genetic testing that includes screening for mutations in multiple genes to ensure accurate diagnosis and appropriate treatment.
6. If you are interested in accessing scientific articles on the GRM6 gene and related conditions, PubMed is a reliable and comprehensive database. It provides access to a vast collection of peer-reviewed research articles in the field of ophthalmology. Using relevant keywords such as “GRM6 gene” or “congenital stationary night blindness,” you can easily retrieve relevant publications and stay up-to-date with the latest advancements in this field.
Overall, scientific articles on PubMed offer a wealth of information on the GRM6 gene and its association with retinal diseases. These articles provide valuable insights into the genetics, clinical characteristics, and testing methods for this condition. Researchers and healthcare professionals can leverage this information to improve diagnosis, treatment, and patient care.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides comprehensive and up-to-date information on genetic conditions and the genes associated with them. OMIM is a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of human diseases.
The catalog includes a wide range of genetic diseases, including congenital and acquired disorders. It lists genes and their variants that are associated with specific diseases or conditions. Each entry in the catalog provides detailed scientific information on the gene, its function, and the diseases caused by mutations in the gene.
For example, the GRM6 gene is listed in OMIM as being associated with autosomal recessive congenital stationary night blindness. This condition affects the functioning of the retina and leads to impaired vision in dim light. The OMIM entry for GRM6 provides information on the gene, its function, and the specific mutations that can cause the disease.
OMIM also provides references to scientific articles and databases such as PubMed, where additional information on the gene and associated diseases can be found. The catalog includes information on other genes related to the condition, allowing researchers and clinicians to explore potential genetic causes and treatment options.
OMIM is an invaluable resource for genetic testing labs, as it provides a comprehensive and reliable source of information on genes and their associated diseases. The catalog helps laboratories in selecting appropriate tests and in interpreting the results of genetic tests.
In conclusion, OMIM serves as a central hub of information on genes and genetic diseases. It offers a wealth of information on the GRM6 gene and many other genes associated with various conditions. The catalog is continuously updated with new scientific discoveries and provides researchers, clinicians, and individuals with the necessary resources to better understand and treat genetic disorders.
Gene and Variant Databases
In the field of genetics, gene and variant databases play a crucial role in collecting and organizing information about genes and their associated variants. These databases serve as valuable resources for researchers, clinicians, and individuals interested in genetic testing and understanding genetic conditions.
One of the prominent databases in this field is the Gene and Variant Database. It provides a comprehensive collection of genes and variants associated with a wide range of health conditions. By using this database, researchers and clinicians can easily access information about specific genes and their variants, such as mutations, genetic changes, and their effects on health.
The Gene and Variant Database includes various resources related to specific genes such as GRM6 and diseases such as congenital stationary night blindness. These resources include scientific articles, citation databases (such as PubMed), and genetic testing information.
For example, if researchers or clinicians are interested in the GRM6 gene and its association with congenital stationary night blindness, they can find related articles and information about this gene from the Gene and Variant Database. They can also access additional information from other databases such as PubMed and OMIM (Online Mendelian Inheritance in Man).
The Gene and Variant Database also provides a catalog of genes associated with different health conditions. These genes are listed by their names, and the database provides information about the type of inheritance (autosomal recessive, autosomal dominant, etc.) and the associated health conditions.
One important feature of the Gene and Variant Database is the inclusion of a registry for specific genetic diseases, such as congenital stationary night blindness. This registry allows individuals with these conditions to receive information about ongoing research, clinical trials, and available resources.
Overall, gene and variant databases play a crucial role in consolidating and disseminating information about genes and their associated variants. They serve as valuable resources for researchers, clinicians, and individuals interested in genetic testing and understanding genetic conditions.
- Neidhardt J, Barthelmes D, Farahmand F, et al. Multimodal functional investigation of the GRM6 marker rs1258267 and biochemical evaluation of GRM6-related pathogenic variants in congenital stationary night blindness. Ophthalmic Genet. 2016;37(3):239-246. doi:10.3109/13816810.2015.1093494
- Zeitz C, Kloeckener-Gruissem B, Forster U, et al. Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. Invest Ophthalmol Vis Sci. 2005;46(11):4328-4335. doi:10.1167/iovs.05-0143
- GRM6 gene. (n.d.). In: OMIM Gene. Retrieved from https://omim.org/gene/605853
- GRM6 gene. (n.d.). In: Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/GRM6
- GRM6 gene. (n.d.). In: GeneCards. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=GRM6
- GRM6. (n.d.). In: NCBI Gene Database. Retrieved from https://www.ncbi.nlm.nih.gov/gene/2916
Australian National Genomic Information Service (ANGIS), including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney.
Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens. There can be more than an I00 form within a species and little overlap between related species. This variation is due to the reassortment of genes between O antigen genes and other gene clusters and the transfer of gene clusters between species. He showed that the 7th pandemic clone of Vibrio cholerae did not arise directly from the 6th pandemic clone, suggesting it arose from an environmental strain, with implications for the origins of this significant human pathogen.