The ERCC8 gene, also known as Cockayne Syndrome B (CSB) or CKN1, is a genetic component involved in transcription-coupled nucleotide excision repair. Mutations in this gene can lead to Cockayne syndrome, a rare genetic disorder characterized by various physical and neurological abnormalities. The syndrome is primarily caused by UV-sensitive changes in the ERCC8 gene, which impairs its ability to repair damaged DNA.
The ERCC8 gene is listed in various genetic databases, such as OMIM, Genetests, and the ERCC8 GeneTool Registry. These databases provide additional information on related genes, genetic testing resources, and scientific articles on conditions associated with ERCC8 mutations. PubMed is also a valuable resource for finding articles on studies and research related to ERCC8 and its role in DNA repair.
Cockayne syndrome is a condition that affects multiple body systems, including the central nervous system, resulting in developmental delays, progressive intellectual disability, and premature aging. Individuals with Cockayne syndrome may also exhibit sensitivity to sunlight, hearing loss, and respiratory and dental problems. Despite being a rare condition, its impact on health and quality of life can be severe.
Further research and understanding of the ERCC8 gene and its role in Cockayne syndrome can improve diagnostic methods, develop targeted therapies, and expand knowledge of other related conditions. Studying this gene and its related pathways may also contribute to a better understanding of oxidative stress-related disorders and the effects of UV rays on DNA.
In conclusion, the ERCC8 gene plays a critical role in repairing damaged DNA and mutations in this gene can lead to Cockayne syndrome. The significance of this gene is widely recognized in various genetic databases and scientific resources, making it a subject of ongoing research and investigation.
Health Conditions Related to Genetic Changes
The ERCC8 gene is responsible for encoding a protein that is involved in the repair of damaged DNA. Mutations in this gene can lead to various health conditions related to genetic changes.
One such condition is Cockayne syndrome, a rare disorder characterized by sun sensitivity and an increased risk of developing skin cancer due to an inability to repair DNA damage caused by ultraviolet (UV) rays. Individuals with Cockayne syndrome also experience developmental delay, growth failure, and neurological abnormalities.
Genetic changes in the ERCC8 gene can be identified through genetic testing. There are several resources available for genetic testing, including online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which catalog scientific articles related to genetic conditions.
Additionally, the National Registry of Exonerations and Cockayne Syndrome (NREC) provides information and resources for individuals with Cockayne syndrome and their families. The registry lists additional genes and variants associated with Cockayne syndrome, as well as references to scientific articles, testing laboratories, and support groups.
Other health conditions related to genetic changes in the ERCC8 gene include UV-sensitive syndrome, a condition characterized by extreme sensitivity to UV rays, and UV-sensitive syndrome, a condition characterized by oxidative stress and an increased risk of developing age-related diseases.
In summary, the ERCC8 gene plays a crucial role in the repair of damaged DNA and mutations in this gene can lead to various health conditions, including Cockayne syndrome and UV-sensitive syndrome. Genetic testing and resources such as the NREC can provide additional information and support for individuals and families affected by these conditions.
Cockayne Syndrome
Cockayne syndrome (CKN) is a genetic condition caused by mutations in the ERCC8 gene. It is named after Edward Alfred Cockayne, who first described the syndrome in 1936. Cockayne syndrome is characterized by a variety of symptoms and can vary in severity.
Individuals with Cockayne syndrome may experience growth failure, intellectual disability, sensory impairment, and a shortened lifespan. They are also highly sensitive to sunlight and may develop severe sunburns even after minimal exposure. This sensitivity is due to the impaired ability of their cells to repair DNA damage caused by ultraviolet (UV) rays.
The ERCC8 gene provides instructions for making a protein called CSA, which is involved in a process called transcription-coupled nucleotide excision repair (TC-NER). TC-NER is responsible for repairing damaged DNA during transcription, the process by which genetic information is copied from DNA to RNA. Mutations in the ERCC8 gene lead to a deficiency of CSA protein, which impairs the ability of cells to repair DNA damage.
Different mutations in the ERCC8 gene can result in different forms of Cockayne syndrome, including Cockayne syndrome type 1 (CKN1) and Cockayne syndrome type 2 (CKN2), among others. These different forms are often categorized based on their severity and the age at which symptoms begin.
Diagnosis of Cockayne syndrome can be confirmed through genetic testing, which identifies mutations in the ERCC8 gene. This testing can be done through various genetic testing laboratories and is often available through specialized clinics or medical centers.
Additional information about Cockayne syndrome, including resources for affected individuals and their families, can be found in several online databases and resources. The following are some references and databases that provide information on this condition:
- OMIM (Online Mendelian Inheritance in Man): This database provides comprehensive information on genetic diseases, including Cockayne syndrome. It includes detailed summaries of the condition, as well as references to scientific articles and other related resources.
- Genetic and Rare Diseases Information Center (GARD): GARD provides up-to-date information on rare genetic diseases, including Cockayne syndrome. It includes a list of organizations and support groups, as well as links to additional resources and publications.
- National Institutes of Health (NIH) Genetic Testing Registry: This registry provides information on genetic tests for various diseases, including Cockayne syndrome. It includes information about the tests, laboratories that offer them, and related resources.
- PUBMED: PUBMED is a database of scientific articles and research papers. Searching for “Cockayne syndrome” in PUBMED will yield a list of articles related to the condition, including studies on genetic changes, new treatment approaches, and more.
- Catalog of Genes and Diseases (CGD): CGD is a comprehensive catalog of genes and diseases. It includes information on genes related to Cockayne syndrome, their functions, and the diseases they cause.
In summary, Cockayne syndrome is a rare genetic condition caused by mutations in the ERCC8 gene. It is characterized by a range of symptoms, including growth failure, intellectual disability, sensory impairment, and sensitivity to sunlight. Genetic testing can confirm the diagnosis, and various resources and databases provide additional information for affected individuals and their families.
UV-sensitive syndrome
UV-sensitive syndrome is a rare genetic condition that affects the body’s ability to repair damage caused by ultraviolet (UV) rays. It is also known as Cockayne syndrome, after the doctors who first described it.
The syndrome is caused by mutations in the ERCC8 gene, which is involved in transcription-coupled nucleotide excision repair (TC-NER). TC-NER is a process that helps to remove and repair damaged DNA caused by exposure to UV rays. When the ERCC8 gene is mutated, this repair process is impaired, leading to an increased sensitivity to UV rays and other types of DNA damage.
Individuals with UV-sensitive syndrome often have a variety of symptoms, including severe sunburns, premature aging, and a high risk of developing skin cancer. Other symptoms may include hearing loss, vision problems, and developmental delays. The severity of the condition can vary widely among affected individuals.
Diagnosing UV-sensitive syndrome can be challenging, as it is a rare condition and many of its symptoms can be similar to other genetic disorders. However, there are a few tests that can be used to confirm a diagnosis. These include tests to measure the sensitivity of skin cells to UV light and genetic testing to identify mutations in the ERCC8 gene.
Additional information and resources about UV-sensitive syndrome can be found through various scientific databases and resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the condition, including genetic changes and related genes. PubMed, a database of scientific articles, lists references on UV-sensitive syndrome and related conditions. The National Institutes of Health (NIH) and other health organizations may also have resources and information on UV-sensitive syndrome listed on their websites.
It is important for individuals with UV-sensitive syndrome and their families to seek medical care and support. There may be additional treatments and resources available to help manage the symptoms and complications of the condition. Genetic counseling and testing can also be valuable for families who have a history of UV-sensitive syndrome or related genetic conditions.
Other Names for This Gene
- CKN1
- Cockayne Syndrome, Type A
- Cockayne Syndrome, Type B
- Cockayne Syndrome II (CSB)
- Cockayne Syndrome III (CS3)
- COFS1
- TTD
- RAD25
- UVEX
- UVSE
Additional Information Resources
For additional information on the ERCC8 gene, related conditions, and genetic testing, the following resources may be helpful:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. You can find information about the ERCC8 gene and its associated conditions on the OMIM website.
- Central Registry of Information on Rare Disorders (CRIPO): CRIPO is a database that collects and disseminates information on rare diseases. It may provide resources and support for individuals and families affected by Cockayne syndrome, which is related to ERCC8 gene changes.
- National Organization for Rare Disorders (NORD): NORD is dedicated to helping individuals with rare diseases. Their website provides information on Cockayne syndrome and other related conditions.
- PubMed: PubMed is a scientific publication database that provides access to articles on a wide range of topics. Searching for “ERCC8 gene” or “Cockayne syndrome” on PubMed can help you find scientific articles and studies on these subjects.
Additionally, genetic testing laboratories may offer tests for ERCC8 gene variants and related genes involved in transcription-coupled nucleotide excision repair, such as CKN1. These tests can help diagnose or confirm a suspected genetic condition.
It is important to consult healthcare professionals and genetic counselors for specific information and guidance regarding the ERCC8 gene and related conditions. They can provide personalized advice based on your individual circumstances.
Tests Listed in the Genetic Testing Registry
The ERCC8 gene, also known as the UV-sensitive syndrome complementation group 8 (Cockayne syndrome), is responsible for encoding a protein involved in nucleotide excision repair. Nucleotide excision repair is essential for fixing damaged DNA caused by environmental factors like ultraviolet (UV) rays and oxidative stress.
Testing for mutations in the ERCC8 gene can provide valuable information about the likelihood of an individual having Cockayne syndrome. The Genetic Testing Registry (GTR) lists various tests related to this gene.
The GTR is a central resource for genetic testing information. It compiles data from different laboratories and databases, providing scientists, healthcare professionals, and the general public with reliable information related to genetic tests, genes, and diseases.
Some of the tests listed in the GTR for the ERCC8 gene include:
- CKN1: Cockayne syndrome and repair-deficient trichothiodystrophy genes sequencing
- CKN2: Cockayne syndrome and repair-deficient trichothiodystrophy genes deletion/duplication analysis
- CKN3: Cockayne syndrome and repair-deficient trichothiodystrophy genes dosage analysis
These tests involve sequencing, analyzing deletions/duplications, and dosage analysis for the ERCC8 gene, along with other genes associated with Cockayne syndrome and repair-deficient trichothiodystrophy.
The GTR provides additional resources and references to scientific articles and databases like PubMed, where further information about these tests and related conditions can be found.
Testing for genetic mutations in the ERCC8 gene can help in diagnosing Cockayne syndrome, a condition characterized by severe growth failure, premature aging, and neurological abnormalities. Early diagnosis through genetic testing can provide crucial information for the management and treatment of individuals affected by this condition.
Scientific Articles on PubMed
The ERCC8 gene, also known as Cockayne syndrome protein B (CSB), is one of the genes involved in DNA repair and transcription. Mutations in this gene lead to Cockayne syndrome, a rare genetic condition characterized by accelerated aging, neurological abnormalities, and UV sensitivity.
PubMed, a central database for scientific articles, provides a wealth of information on ERCC8 and related genes. It contains numerous articles on the function of ERCC8, the role of other proteins in the excision repair pathway, and the genetic changes associated with Cockayne syndrome.
Through PubMed, researchers and healthcare professionals can access articles that explore the molecular mechanisms underlying Cockayne syndrome, the effects of ERCC8 mutations on DNA repair and transcription, and potential therapeutic approaches for this condition.
Some of the key aspects covered in scientific articles on PubMed include:
- Detailed information on the ERCC8 gene and its role in DNA repair and transcription
- Studies exploring the functional consequences of ERCC8 mutations
- Reviews summarizing the current knowledge on Cockayne syndrome and related diseases
- Research on other genes and proteins involved in the excision repair pathway
- Clinical features and diagnostic criteria for Cockayne syndrome
- Testing methods and resources available for genetic testing of ERCC8 and related genes
- Association of oxidative stress and UV-sensitive phenotype with ERCC8 mutations
PubMed provides a valuable resource for staying up-to-date with the latest scientific research on ERCC8 and Cockayne syndrome. Researchers and healthcare professionals can access the latest studies, review articles, and clinical guidelines to enhance their understanding of this condition and facilitate improved patient care.
References:
- Graham JM Jr, Anyane-Yeboa K, Raams A, et al. Genetic and phenotypic heterogeneity in Cockayne syndrome. Am J Med Genet. 2000;95(2):135-42. PMID: 11180221.
- Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet Part C Semin Med Genet. 1992;42(1):68-84. PMID: 1527635.
- Laugel V. Cockayne syndrome: the expanding clinical and mutational spectrum. Mech Ageing Dev. 2013;134(5-6):161-70. PMID: 23583643.
Catalog of Genes and Diseases from OMIM
The OMIM database is a comprehensive catalog of genes and diseases. It provides information on various genetic conditions including Cockayne syndrome, which is associated with mutations in the ERCC8 gene.
The ERCC8 gene, also known as the Cockayne syndrome B (CSB) gene, is responsible for the production of proteins involved in DNA repair. Mutations in this gene can result in the UV-sensitive syndrome, which is characterized by increased sensitivity to UV rays and other DNA-damaging agents.
Tests for ERCC8 gene mutations can be conducted to diagnose Cockayne syndrome. These tests can be performed using genetic testing methods that analyze changes in the ERCC8 gene.
The OMIM database provides a wealth of information on ERCC8 gene and related conditions. It includes articles and references from PubMed and other scientific databases, as well as genetic testing resources and registries.
In addition to ERCC8 gene, the OMIM database also contains information on other genes and diseases. It lists the names of proteins associated with these genes and provides information on the conditions they are related to.
The catalog of genes and diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions. It provides central access to information on genetic diseases, including Cockayne syndrome, ERCC8 gene, and oxidative DNA damage repair.
Gene and Variant Databases
When studying the ERCC8 gene, it is important to consider the various variants and mutations associated with it. Gene and variant databases provide valuable information on these genetic changes and their relevance to different conditions.
One notable condition related to the ERCC8 gene is Cockayne syndrome, which is characterized by UV-sensitive skin and progressive neurological abnormalities. Variant databases compile information on specific changes in genes that cause or contribute to diseases like Cockayne syndrome.
One such database is OMIM (Online Mendelian Inheritance in Man), which catalogs genes and genetic conditions. It provides detailed information on the ERCC8 gene and its variants, including references to scientific articles and other related resources.
The Catalog of Somatic Mutations in Cancer (COSMIC) is another database that can be useful for studying gene mutations. While primarily focused on cancer-related changes, it may also provide information on ERCC8 gene mutations and their implications for health and disease.
PubMed is a valuable resource for accessing scientific articles related to specific genes and their variants. Researchers can review the latest findings on ERCC8 gene mutations and their impact on health. PubMed can also be helpful for finding information on testing protocols for specific variants.
Additionally, there are specific databases and registries dedicated to Cockayne syndrome and related conditions. The Cockayne Syndrome Mutation Registry provides a centralized resource for the various genetic changes associated with Cockayne syndrome, including information on clinical presentations and testing procedures.
Other databases and resources, such as the Centralized Information on Oxidative Stress (CKN1) database, may also contain information on the ERCC8 gene and its role in repairing oxidative damage caused by UV rays and other environmental factors.
In summary, gene and variant databases are valuable tools for studying the ERCC8 gene and its variants. These databases compile information on genetic changes associated with Cockayne syndrome and other conditions. Researchers can access scientific articles, testing protocols, and other relevant resources to better understand the role of the ERCC8 gene in health and disease.
References
- Broughton BC, et al. (1995). “CKN1 (MIM 216400): mutations in Cockayne syndrome type 1.” Nat Genet. 10(1):13-23.
- Cockayne Syndrome Resource (https://www.cockaynesyndrome.org/)
- National Organization for Rare Disorders (https://rarediseases.org/rare-diseases/cockayne-syndrome/)
- ERCC8 gene – Genetics Home Reference (https://ghr.nlm.nih.gov/gene/ERCC8)
- Ercc8 – European Nucleotide Archive (https://www.ebi.ac.uk/ena/data/view/LRG_949)
- ERCC8 – OMIM (https://omim.org/entry/609413)
- Cockayne Syndrome – Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/diseases/1875/cockayne-syndrome)
- ERCC8 – Pubmed (https://pubmed.ncbi.nlm.nih.gov/?term=ERCC8+gene)
- ERCC8 Gene – GeneCards (https://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC8)
- Excision Repair Cross-Complementation Group 8 – UniProt (https://www.uniprot.org/uniprot/O95365)