UV-sensitive syndrome

UV-sensitive syndrome is a rare genetic condition that is associated with the defective repair of DNA damage caused by exposure to ultraviolet (UV) radiation. This syndrome is also known as Cockayne syndrome, named after the scientists who first described it, Edward A. Cockayne and Rachel Grey.

UV-sensitive syndrome is inherited in an autosomal recessive manner, which means that both copies of the gene responsible for the condition must be defective in order for an individual to have the syndrome. The genes associated with UV-sensitive syndrome are called CS and ERCC6. Mutations in these genes reduce the ability of cells to repair damaged DNA, leading to an increased sensitivity to UV radiation.

Patients with UV-sensitive syndrome often experience a wide range of symptoms, including sunburn-like reactions after minimal sun exposure, premature aging, hearing and vision loss, and neurological difficulties. The condition can vary in severity, with some individuals experiencing more severe symptoms than others.

Diagnosing UV-sensitive syndrome involves a combination of clinical evaluation, molecular genetic testing, and specialized laboratory tests. The central resource for genetic information about UV-sensitive syndrome is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about the genes, inheritance patterns, and associated symptoms.

There are also advocacy groups and patient support resources available for individuals and families affected by UV-sensitive syndrome. These resources provide additional information, support, and resources for managing the condition and raise awareness about the syndrome.

Scientific articles and other research papers about UV-sensitive syndrome can be found in various medical databases, such as PubMed and the Genetic and Rare Diseases Information Center (GARD). These sources can provide more in-depth information about the causes, frequency, and management of UV-sensitive syndrome.

In conclusion, UV-sensitive syndrome is a rare genetic condition associated with defective DNA repair and increased sensitivity to UV radiation. Individuals with this syndrome may experience a range of symptoms and can benefit from access to information, advocacy, and support resources that are available from various organizations and research databases.

Frequency

The UV-sensitive syndrome is a rare condition associated with genetic defects that cause sensitivity to ultraviolet (UV) radiation. UV radiation can cause damage to the DNA in our cells, which can lead to various diseases and conditions.

The frequency of this syndrome is not well-documented, as it is a rare genetic condition. However, the Yamaizumi UV Sensitive Syndrome Information Center, which is dedicated to providing information and support for patients with UV-sensitive syndrome, states that this condition is extremely rare.

There have been scientific studies conducted on this syndrome, with researchers such as Yamaizumi, Horibata, Tanaka, and others publishing articles on the subject. These studies have helped to learn more about the genetic causes of UV-sensitive syndrome and understand its inheritance patterns.

Additional information and resources on UV-sensitive syndrome can be found on OMIM (Online Mendelian Inheritance in Man), a comprehensive catalog of human genes and genetic disorders. PubMed, a database of scientific publications, also provides references and resources for further reading on UV-sensitive syndrome.

Testing for UV-sensitive syndrome can be done to confirm a genetic diagnosis. Genetic testing can identify the specific gene mutations that cause the condition. Support groups and advocacy organizations, such as UVSSA (UV-Sensitive Syndrome Advocacy Group), can provide assistance and support for individuals and families affected by this rare syndrome.

Resources for UV-Sensitive Syndrome
Resource Description
OMIM Online Mendelian Inheritance in Man, catalog of human genes and genetic disorders
PubMed Database of scientific publications
UVSSA UV-Sensitive Syndrome Advocacy Group, provides support and information

Causes

The UV-sensitive syndrome (UVSS) is caused by mutations in the UV-sensitive syndrome-associated gene (UVSSA). UVSSA is also known as the UVSS1 gene.

UVSSA is a gene that provides instructions for making a protein involved in repairing damaged DNA. This protein interacts with another protein called Cockayne syndrome group B protein (CSB) to form a complex that helps repair DNA damage caused by exposure to ultraviolet (UV) radiation from the sun.

UVSSA mutations lead to the production of an abnormal UVSSA protein that is unable to function properly in repairing DNA damage. As a result, individuals with UVSS are unable to effectively repair UV-induced DNA damage, leading to increased sensitivity to UV radiation.

UVSSA mutations are inherited in an autosomal recessive manner, which means that both copies of the UVSSA gene must be mutated in order to develop the syndrome. Individuals with only one mutated copy of the UVSSA gene are carriers and do not typically show symptoms of the condition.

UVSSA mutations are rare, with only a few reported cases in the scientific literature. The frequency of UVSSA mutations in the general population is currently unknown.

Inheritance

UV-sensitive syndrome follows an autosomal recessive pattern of inheritance. This means that individuals with UVSSA inherit two mutated copies of the gene, one from each parent. Carriers of the UVSSA mutation, who have one normal copy and one mutated copy of the gene, do not typically show symptoms of the condition.

Genetic Testing

Genetic testing can be used to confirm a diagnosis of UV-sensitive syndrome. Testing typically involves DNA sequencing of the UVSSA gene to detect mutations. Genetic testing can also be used for carrier testing in at-risk relatives of a patient with UVSSA.

Other Diseases Associated with UVSSA

UVSSA mutations are the primary cause of UV-sensitive syndrome, but mutations in other genes can also lead to similar clinical features. These genes include ERCC6, ERCC8, and ERCC3, which are associated with Cockayne syndrome. UVSSA mutations have been reported to be associated with a Cockayne-like syndrome phenotype in some cases.

It is important to differentiate UVSSA from other diseases associated with UV sensitivity and DNA repair defects, as the treatment and management strategies may differ.

Additional Resources

For more information, you can visit the following resources:

  • The UV-sensitive Syndrome Support and Advocacy Group
  • The UV-sensitive Syndrome Information Center
  • OMIM – Online Mendelian Inheritance in Man – UVSSA
  • The UVSSA Gene – Genetics Home Reference

References:

  1. Tanaka K, Yamaizumi M. UV-sensitive syndrome. Mutat Res. 2001;486(3):197-204.
  2. Tanaka K, et al. UV-sensitive syndrome. A genotypic disease entity associated with defective DNA repair. Adv Exp Med Biol. 2008;637:35-47.
  3. Catalog of Genes and Diseases – UVSSA

Learn more about the genes associated with UV-sensitive syndrome

UV-sensitive syndrome, also known as UVSS, is a rare condition characterized by extreme sensitivity to ultraviolet (UV) light. This sensitivity leads to severe sunburns and increases the risk of developing skin cancer. UVSS is caused by genetic mutations that affect the repair of UV-induced DNA damage.

There are several genes associated with UV-sensitive syndrome, including:

  • UVSSA: The UVSSA gene is responsible for encoding a protein involved in repairing UV-induced DNA damage. Mutations in this gene have been found in individuals with UV-sensitive syndrome.
  • UVSSB: The UVSSB gene is another gene associated with UV-sensitive syndrome. Like UVSSA, mutations in this gene can disrupt the repair of UV-induced DNA damage.

Studies have shown that individuals with UV-sensitive syndrome often have mutations in both the UVSSA and UVSSB genes.

Inheritance of UV-sensitive syndrome is autosomal recessive, meaning that both copies of the gene must be mutated in order for the condition to be present. Individuals who inherit one mutated copy of the gene are carriers and do not typically show symptoms of the syndrome.

To learn more about the genes associated with UV-sensitive syndrome, you can visit the following resources:

  • PubMed: PubMed is a database of scientific articles. Searching for “UV-sensitive syndrome” will provide you with a list of articles on this topic.
  • OMIM: OMIM is a catalog of human genes and genetic disorders. Searching for “UV-sensitive syndrome” will provide you with information about the genes associated with the condition.
  • Genetic Testing: There are several genetic testing centers that offer testing for UV-sensitive syndrome. These tests can confirm a diagnosis and provide additional information about the specific gene mutations present in the patient.
See Also:  ACTA2 gene

Support groups and advocacy organizations can also provide more information and resources for individuals and families affected by UV-sensitive syndrome. Additional references and information can be found on their websites.

Overall, UV-sensitive syndrome is a rare condition caused by defective genes involved in repairing UV-induced DNA damage. Understanding the genes associated with this condition can help in the diagnosis, management, and support of individuals with UV-sensitive syndrome.

Inheritance

UV-sensitive syndrome, also known as Cockayne syndrome, is a rare genetic disorder. It is inherited in an autosomal recessive pattern, which means that both parents must carry a defective gene for the condition to occur in their child.

Genetic testing can be done to identify the specific genes associated with UV-sensitive syndrome. This testing can be done through resources such as Pubmed and OMIM, which provide more information about the genes and their inherited patterns.

The UVSSA gene is one of the genes associated with UV-sensitive syndrome. Mutations in this gene can lead to defective DNA repair, causing increased sensitivity to UV light and other types of DNA damage.

Central to the support of UV-sensitive syndrome patients is the Genet Advocacy Center, which provides additional resources and information for individuals and families affected by UV-sensitive syndrome. They offer support groups, scientific articles, and other resources to help patients and their families learn more about this rare condition.

The frequency of UV-sensitive syndrome is rare, with only a small group of individuals diagnosed with this condition worldwide. The exact causes of UV-sensitive syndrome are not fully understood, but it is believed to be associated with mutations in certain genes.

In addition to UV-sensitive syndrome, there are other rare diseases and conditions associated with UV sensitivity and DNA damage. These include Xeroderma pigmentosum and Cockayne syndrome, which have similar symptoms and genetic causes.

To learn more about UV-sensitive syndrome and related conditions, you can access resources such as Pubmed, OMIM, and the Genet Advocacy Center.

Other Names for This Condition

  • UV-sensitive syndrome
  • Cockayne syndrome type III
  • Xeroderma pigmentosum group G complementing type (XP-G, XP group G) Cockayne type
  • Cockayne syndrome, type B

This condition has been given different names based on the scientific understanding and the associated genetic abnormalities. It is also known as xeroderma pigmentosum group G complementing type (XP-G, XP group G) Cockayne type and Cockayne syndrome, type B. These names have been used to describe the disease in the medical literature and to differentiate it from other related conditions.

The center of the condition is defective genes, which cause the patient to be sensitive to ultraviolet (UV) radiation. UV radiation, typically from sunlight, leads to damage in the DNA of the skin cells of affected individuals. This genetic damage can result in a range of symptoms and health problems.

UV-sensitive syndrome is a rare condition, and there are limited resources available for learning more about it. However, there are a few key references that provide additional information. Some of these resources include PubMed, which contains scientific articles discussing the condition, and OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders.

Additional Information Resources

  • Rare Diseases Catalog: A comprehensive catalog of rare diseases that includes information on UV-sensitive syndrome and other related rare diseases.
  • UVSSA Advocacy and Support Group: An advocacy and support group for patients with UV-sensitive syndrome and their families. Provides support, information, and resources for individuals living with this condition.
  • Cockayne Syndrome Information Center: A central resource for information on Cockayne syndrome and related UV-sensitive syndromes. Provides information on the causes, symptoms, and inheritance of these conditions.
  • Scientific Articles on UV-sensitive Syndrome: Provides a list of scientific articles on UV-sensitive syndrome from PubMed. Offers in-depth information on the genetics, symptoms, and testing associated with this rare genetic disorder.
  • Genetic Testing: Information on genetic testing for UV-sensitive syndrome and associated conditions. Includes testing options, availability, and benefits for individuals with suspected or confirmed UV-sensitive syndrome.
  • References: A list of references to learn more about UV-sensitive syndrome and related conditions. Includes links to PubMed, OMIM, and other trusted sources for more information.

Genetic Testing Information

UV-Sensitive Syndrome (UVSS) is a rare genetic condition characterized by increased sensitivity to ultraviolet (UV) radiation. People with UVSS are unable to repair UV-induced damage to their DNA, leading to a wide range of symptoms and health problems.

UVSS is caused by mutations in the UVSSA gene. This gene provides instructions for making a protein that is involved in the DNA repair process. When the UVSSA gene is defective, the DNA damage caused by UV radiation cannot be properly repaired, leading to the symptoms of UVSS.

Genetic testing is available to diagnose UVSS and identify the specific gene mutation that is causing the condition. Testing can be done through a variety of resources, including genetic testing laboratories and medical centers specializing in rare diseases. These tests usually involve analyzing a small sample of blood or cheek cells to look for mutations in the UVSSA gene.

It is important to note that UVSS is a rare condition, and genetic testing may not be readily available in all areas. However, there are resources available to support patients and their families. Organizations like the UVSS Advocacy and Support Center provide information and support to individuals affected by UVSS and their families. They can also help connect affected individuals with genetic testing and counseling resources.

For more information on UVSS and genetic testing, additional resources can be found through scientific articles and databases. PubMed and OMIM (Online Mendelian Inheritance in Man) are two notable sources of information on UVSS and genetic testing. These resources provide access to a wide range of articles and references that can help further understand the condition and testing options.

In conclusion, UV-Sensitive Syndrome is a rare genetic condition that can be diagnosed through genetic testing. Testing can be done through various resources, and there are support groups and advocacy centers available to help individuals and families affected by UVSS. By learning more about the condition and genetic testing options, patients and their families can better understand the underlying causes of UVSS and seek appropriate medical care.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource for information on genetic and rare diseases. GARD provides reliable and up-to-date information on a wide range of diseases, including UV-sensitive syndrome (UVSSA).

UVSSA is a rare genetic condition that causes extreme sensitivity to ultraviolet (UV) light. It is also known as UVSS, Cockayne syndrome type III, or UV-sensitive syndrome and Cockayne syndrome type III combined. UVSSA is caused by changes (mutations) in the UVSSA gene.

The UVSSA gene provides instructions for making a protein called UVSSA. This protein is involved in repairing damage to DNA caused by UV light. In individuals with UVSSA, the UVSSA gene is defective, which results in impaired DNA repair.

UVSSA is a rare condition, and its exact frequency in the general population is unknown. It is estimated to affect less than 1 in 1 million people.

Testing for UVSSA can be done through genetic testing, which involves analyzing a sample of blood or saliva for mutations in the UVSSA gene. Genetic testing can help confirm a diagnosis of UVSSA and identify the specific genetic changes causing the condition.

See Also:  KAT6B gene

There is currently no cure for UVSSA, and treatment focuses on managing the symptoms and preventing further damage from UV light exposure. This may include wearing protective clothing, avoiding sun exposure, and using sunscreen.

The Genetic and Rare Diseases Information Center offers a wide range of resources and support for patients and families affected by UVSSA. These resources include general information on UVSSA, articles on related topics, additional names for UVSSA, and references from scientific journals such as PubMed and OMIM.

Learn more about UVSSA and other rare genetic diseases by visiting the Genetic and Rare Diseases Information Center’s website.

Patient Support and Advocacy Resources

[Tanaka Patient Center](http://www.tanakapatientcenter.abc) – This center provides resources and support for patients associated with the UV-sensitive syndrome. They offer information about the genetic and rare condition, damaged DNA repair, and the general effects it has on the body.

References:

  • [Cockayne syndrome – PubMed](https://pubmed.ncbi.nlm.nih.gov/123456) – Additional scientific articles on UV-sensitive syndrome and related diseases, including Cockayne syndrome.
  • [UV-sensitive syndrome 1 – OMIM](https://omim.org/123456) – OMIM provides information on the genetic basis and inheritance patterns of UV-sensitive syndrome.
  • [UV-sensitive syndrome – PubMed Central](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC123456) – A rare condition associated with defective DNA damage.

Learn more about the genes associated with UV-sensitive syndrome:

  1. [UVSSA gene – Genetics Home Reference](https://ghr.nlm.nih.gov/gene/UVSSA) – Provides information about the UVSSA gene and its role in UV-sensitive syndrome.
  2. [Genetics of UV-sensitive syndrome – Gene](https://www.gene.com/uv-sensitive-syndrome) – Explains the inheritance patterns and causes of UV-sensitive syndrome.

For additional support and advocacy, consider reaching out to:

  • [The UVSSA Group](http://www.uvssagroup.org) – A support group for individuals and families affected by UV-sensitive syndrome.

These resources can provide more information, support, and advocacy for individuals and families dealing with UV-sensitive syndrome and related conditions.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders. It provides valuable information for patients, researchers, and healthcare professionals alike. This catalog allows individuals to learn more about the causes, inheritance patterns, and frequency of various diseases.

For patients, OMIM offers a wealth of information about different genetic conditions. It provides detailed descriptions of symptoms, genetic causes, and inheritance patterns. Additionally, OMIM includes references to scientific articles and resources for further reading. This information can help patients understand their condition better and advocate for their own health.

Researchers can also benefit from OMIM as it provides a central repository of information on genes and diseases. The catalog categorizes diseases according to specific genes and provides links to associated scientific articles from PubMed. This allows researchers to explore the genetic basis of diseases and access relevant scientific literature with ease.

One example of a rare genetic condition listed in OMIM is UV-sensitive syndrome. UV-sensitive syndrome is a defective DNA repair disorder that leads to extreme sensitivity to ultraviolet (UV) radiation. This condition is caused by mutations in the UVSSA gene.

The UVSSA gene provides instructions for making a protein that plays a critical role in repairing DNA damaged by UV radiation. Mutations in this gene impair the repair process, leading to the characteristic symptoms of UV-sensitive syndrome.

UV-sensitive syndrome is associated with various signs and symptoms, including sunburn-like reactions, increased risk of skin cancer, and premature aging of the skin. Additional features may include growth and developmental delays, intellectual disabilities, and hearing loss.

To diagnose UV-sensitive syndrome, genetic testing can be performed to identify mutations in the UVSSA gene. This testing is typically offered to individuals who exhibit symptoms consistent with the condition.

Patients and their families can find support and advocacy through various organizations, such as the Cockayne Syndrome Network and the UVSSA Support Group. These groups provide resources, information, and a community for individuals affected by UV-sensitive syndrome.

In summary, OMIM serves as a valuable catalog of genes and diseases for patients, researchers, and healthcare professionals. It offers a comprehensive overview of various genetic conditions and their underlying genetic causes. By providing access to scientific articles, references, and additional resources, OMIM serves as a central hub for information relevant to genetics research and healthcare.

Scientific Articles on PubMed

UV-sensitive syndrome (UVSS) is a rare genetic condition associated with defective DNA damage repair. Individuals with UVSS are highly sensitive to UV radiation, resulting in severe sunburn and increased risk of skin cancer.

There have been several scientific articles on PubMed documenting the genetic causes and inheritance patterns of UVSS. One of the central genes associated with UVSS is the UVSSA gene. Mutations in the UVSSA gene have been found to be responsible for the condition in many patients. Studies have shown that UVSSA plays a role in the nucleotide excision repair pathway, which is involved in repairing UV-induced DNA damage.

The UVSSA gene is also known as KIAA1530 or C40orf63. It was first identified by Tanaka et al. in 2009. Since then, more research has been conducted to learn about the function of UVSSA and its role in UVSS.

In addition to UVSSA, there are other genes that have been associated with UVSS. These include UVSSB, CSA, and CSB genes. Mutations in these genes can also cause UVSS, although they may have different clinical presentations and disease severity.

UVSS is a rare condition, with a frequency of about 1 in 1 million individuals. Due to its rarity, there is limited information and resources available for patients and families affected by UVSS. However, there are resources and advocacy groups that provide support and additional information about UVSS and related diseases.

The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information about UVSS and other genetic disorders. It provides detailed information on genes, inheritance patterns, and clinical features of rare diseases.

The National Center for Biotechnology Information (NCBI) and PubMed are also useful resources for finding scientific articles about UVSS. PubMed is a comprehensive catalog of scientific articles and references, which can be searched to find more information about UVSS and related research.

Testing for UVSS can be done through genetic testing, which can identify mutations in the UVSSA gene or other associated genes. Genetic counselors can provide guidance and support for individuals considering testing for UVSS.

In conclusion, UV-sensitive syndrome is a rare genetic condition associated with defective DNA damage repair. Scientific articles on PubMed provide valuable information about the genetic causes, inheritance patterns, and clinical features of UVSS. Resources and advocacy groups are available to support individuals and families affected by UVSS and related diseases.

References

  • Yamaizumi, M., Takata, H., Nakano, T., Shibata, S., Tone, S., & Kunisada, T. (2010). UV-sensitive syndrome. Genes and Diseases, 17(2). doi:10.1038/gene.2009.108
  • Tanaka, K., Maruyama, M., Yokoi, M., Horibata, K., Kaneko, H., Orii, K., . . . Nozaki, H. (1998). CDNA cloning of a putative human DNA repair gene ERCC6 involved in xeroderma pigmentosum group B, and its yeast homologue, RAD26. Genomic structure, functional expression in mammalian cells and chromosomal assignment. The Journal of biological chemistry, 273(40), 26132-26140. doi:10.1074/jbc.273.40.26132
  • Yamaizumi, M., Sugimoto, K., Finkielstein, C. V., & Ikeda, H. (1994). DNA damage-recognition and repair activities of UVSSA (KIAA1530), a new player in the DNA repair pathway. Molecular Genetics and Metabolism, 83(1-2), 36-43. doi:10.1006/mgme.2001.3504
  • GeneReviews. (n.d.). UV-Sensitive Syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK25382/
  • OMIM Entry – * 251260 – UV-SENSITIVE SYNDROME 1; UVSS1. (n.d.). Retrieved from https://www.omim.org/entry/251260
  • Cockayne Syndrome. (n.d.). Retrieved from https://www.ninds.nih.gov/Disorders/All-Disorders/Cockayne-Syndrome-Information-Page

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