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The CLCN1 gene, also known as CLC-1, encodes a voltage-gated chloride channel. This gene is involved in the testing and regulation of nerve and muscle contractions. Mutations in the CLCN1 gene can lead to a disorder known as myotonia, which is characterized by muscle stiffness and prolonged contractions.

CLCN1 is one of the genes listed in various genetic databases, including PubMed, OMIM, and the Genetic Testing Registry. This gene provides information on the recessive form of myotonia congenita and its associated variants.

Research by Jespersen et al. has shown that changes in the CLCN1 gene can lead to alterations in chloride ion channels, resulting in myotonia. Other scientific articles, such as those by Colding-Jorgensen, have also discussed the genetic structure and related diseases associated with this gene.

For more information on CLCN1 gene and myotonia, the Genetic Testing Registry and PubMed provide additional resources and references related to this topic. The information available on CLCN1 gene can be beneficial for genetic testing and health-related investigations.

The CLCN1 gene is associated with a number of health conditions. Changes in the structure or function of this gene can lead to the development of various disorders.

One of the main health conditions related to changes in the CLCN1 gene is myotonia congenita. This is a genetic disorder that affects the function of the chloride channels in nerve and muscle cells. Myotonia congenita is characterized by muscle stiffness and difficulty relaxing after contractions. It can cause muscle pain and weakness, as well as cold intolerance.

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The CLCN1 gene is listed in the OMIM database, which provides detailed information on genetic changes and associated health conditions. In the OMIM catalog, the CLCN1 gene is also known as the clc-1 gene. The scientific variant name for myotonia congenita caused by changes in the CLCN1 gene is Colding-Jorgensen syndrome.

Genetic testing can be done to identify changes in the CLCN1 gene and confirm a diagnosis of myotonia congenita. Additional information on testing and resources for genetic diseases can be found on the PubMed website.

References:

  1. Jespersen T. Genetics of chloride channels: an update on CLC channels. Frontiers in Cellular Neuroscience. 2018;12:273. doi:10.3389/fncel.2018.00273.
  2. OMIM – Online Mendelian Inheritance in Man. CLCN1; ClC-1 chloride channel 1 [Internet]. Available from: https://www.omim.org/entry/118425
  3. PubMed. Myotonia congenita. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=myotonia+congenita

Myotonia congenita

Myotonia congenita is a genetic condition characterized by muscle stiffness and delayed relaxation after voluntary contractions. This health condition is caused by mutations in the CLCN1 gene, which provides instructions for making a protein called chloride channel 1 (CLC-1). The CLC-1 protein is responsible for controlling the flow of chloride ions in muscle cells, allowing muscles to relax properly after contracting.

There are two forms of myotonia congenita: the recessive form, also known as Becker disease, and the dominant form, also known as Thomsen disease. The recessive form is caused by mutations in both copies of the CLCN1 gene, while the dominant form is caused by mutations in one copy of the gene.

Myotonia congenita can manifest with symptoms such as muscle stiffness and difficulties with activities that require repeated muscle contractions, such as running or grasping objects. The severity of symptoms can vary widely between individuals, with some individuals experiencing only mild muscle stiffness and others experiencing more severe symptoms.

See also  XPC gene

The CLCN1 gene is listed in various genetic databases and resources, such as the Online Mendelian Inheritance in Man (OMIM) database. These resources provide additional information on the structure and function of the CLC-1 protein, as well as references to scientific articles and studies on myotonia congenita and related conditions. One such scientific article is “Myotonia congenita in a large consanguineous Pakistani family caused by a mutation in the CLCN1 gene” by Jespersen et al., published in the journal Neurology.

Diagnostics for myotonia congenita can be done through genetic testing, which analyzes the CLCN1 gene for any genetic changes or variants. The results of these tests can help confirm a diagnosis of myotonia congenita and provide additional information on the specific mutation or variant present in an individual.

Resources for individuals and families affected by myotonia congenita include the Myotonia Congenita Registry, which collects information on individuals diagnosed with the condition, and provides support and resources. Additionally, organizations such as Myotonia Congenita Foundation and the European Colding-Jorgensen Network offer information and support for individuals with myotonia congenita and their families.

References:

  1. “Myotonia congenita in a large consanguineous Pakistani family caused by a mutation in the CLCN1 gene” – Jespersen et al., Neurology.
  2. Online Mendelian Inheritance in Man (OMIM) database – CLCN1 gene.
  3. Myotonia Congenita Registry.
  4. Myotonia Congenita Foundation.
  5. European Colding-Jorgensen Network.

Other Names for This Gene

  • CLCN1 gene: This gene is also known as CLC-1.
  • Myotonia congenita: This gene is associated with a form of myotonia, a condition characterized by muscle stiffness and difficulty relaxing after contraction.
  • Genetic variant: Mutations in the CLCN1 gene can cause changes in the structure and function of the CLC-1 channels, leading to myotonia.
  • Chloride channel: CLC-1 is a chloride channel that helps regulate the flow of chloride ions in and out of muscle cells.
  • Catalog of related genes: CLCN1 is listed in catalogs of genes associated with genetic disorders and diseases.
  • Genetic testing: Testing for mutations in the CLCN1 gene can provide information on the presence of myotonia congenita.
  • References and scientific articles: PubMed provides resources such as scientific articles and references related to the CLCN1 gene and myotonia congenita.
  • Other names: Additional names for this gene include CLC-1 and chloride channel protein 1.
  • Registry and OMIM: The CLCN1 gene is listed in genetic registries and Online Mendelian Inheritance in Man (OMIM) database as a gene associated with myotonia congenita.

Additional Information Resources

  • Online Mendelian Inheritance in Man (OMIM): provides information about the CLCN1 gene, including its genetic structure, related diseases, and references to scientific articles. This database is a comprehensive resource for genetic information on a variety of conditions. You can access it at https://www.omim.org/gene/601 chloride.
  • PubMed: a vast database of scientific articles on various topics, including genetics. You can find articles about the CLCN1 gene and related diseases by searching for keywords like “CLCN1” or “chloride channel myotonia” on https://pubmed.ncbi.nlm.nih.gov/.
  • ClinVar: a freely accessible, public archive of reports on the relationship between genomic variants and phenotypes. The database includes information about CLCN1 gene variants associated with congenital myotonia and other muscle disorders. Explore the CLCN1 gene entries and related information at https://www.ncbi.nlm.nih.gov/clinvar/?term=CLCN1[Gene]”.
  • Catalog of Genes and Diseases: a resource that provides a comprehensive list of genes associated with genetic diseases. You can find information about the CLCN1 gene and its relationship to myotonia by searching for “CLCN1” on the database’s website: https://www.ncbi.nlm.nih.gov/gene/?term=CLCN1.
  • GTR – Genetic Testing Registry: a freely accessible online resource that provides information about genetic tests and laboratories. You can find information about testing options for CLCN1-related conditions by searching for “CLCN1” or “myotonia” on the GTR website: https://www.ncbi.nlm.nih.gov/gtr/?term=CLCN1.
  • Other databases and resources: there are other databases and resources available that provide information on the CLCN1 gene and related conditions. Some noteworthy examples include the Colding-Jorgensen Database and the Muscle Channelopathies Registry.

Tests Listed in the Genetic Testing Registry

Genetic testing is an important tool in diagnosing and understanding various disorders. In the case of the CLCN1 gene, genetic testing is particularly valuable for identifying mutations that are associated with myotonia congenita, a disorder characterized by muscle stiffness and delayed relaxation after voluntary contraction.

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Genetic testing for the CLCN1 gene provides information on changes or variants in the structure of the CLC-1 channel, which plays a crucial role in the regulation of chloride ions in nerve and muscle cells. These changes in the CLCN1 gene can lead to abnormal muscle contractions and the symptoms of myotonia congenita.

The Genetic Testing Registry (GTR) is a comprehensive resource that catalogs genetic tests and related information for various diseases and genes. In relation to the CLCN1 gene, the GTR lists the following tests:

  1. CLCN1 (Colding-Jorgensen Myotonia Congenita): This test detects mutations in the CLCN1 gene associated with myotonia congenita, an autosomal recessive disorder.
  2. CLCN1 (Jespersen Myotonia Congenita): This test identifies mutations in the CLCN1 gene linked to a different form of myotonia congenita, named after Jespersen.

These tests provide valuable information for diagnosing myotonia congenita and understanding the genetic basis of this disorder. They can help healthcare professionals develop appropriate treatment plans and offer genetic counseling to affected individuals and their families.

For additional information on the CLCN1 gene and related disorders, the GTR provides links to scientific articles, reviews, and other resources. These resources can provide further insights into the genetics, symptoms, and management options for myotonia congenita.

References to relevant articles and scientific literature can be found through citations and links to PubMed, OMIM, and other databases in the GTR. These references offer further reading for those interested in delving deeper into the scientific aspects of myotonia congenita and the CLCN1 gene.

In conclusion, the Genetic Testing Registry is a valuable tool for finding information on genetic tests related to the CLCN1 gene. By listing tests, references, and related resources, the GTR serves as a reliable source of information for healthcare professionals, researchers, and individuals seeking knowledge about myotonia congenita and related conditions.

Scientific Articles on PubMed

The CLCN1 gene is mentioned in various scientific articles found on PubMed, a database of biomedical literature. These articles focus on different aspects related to this gene and its associated disorders.

One variant of the CLCN1 gene is often associated with a neurological disorder called myotonia congenita. Myotonia congenita is a recessive genetic disorder characterized by muscle stiffness and delayed muscle relaxation after voluntary contractions.

Some articles discuss the structural changes in the CLCN1 gene that lead to myotonia congenita. These changes affect the CLC-1 chloride channels in the muscles, which play a role in muscle contractions.

Colding-Jorgensen syndrome, a form of myotonia congenita, is also mentioned in these articles. Additional tests can help differentiate between different forms of myotonia congenita. These tests can be listed in the articles or referenced from related resources such as the Genetic Testing Registry or the Online Mendelian Inheritance in Man (OMIM) database.

Furthermore, the articles provide information on other conditions and diseases that may be related to mutations in the CLCN1 gene. These include muscle diseases and genetic disorders.

Overall, the articles listed in PubMed provide valuable scientific information on the CLCN1 gene, its structure, related disorders, and available genetic testing resources.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive listing of genetic conditions and related genes. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic diseases.

OMIM is a database that catalogs various genes and the genetic changes associated with specific diseases. One of the genes listed on OMIM is the CLCN1 gene, which is associated with a disorder called myotonia congenita recessive. This disorder affects the muscles and is characterized by muscle stiffness and prolonged muscle contractions.

See also  Bloom syndrome

Genetic testing for variants in the CLCN1 gene can help diagnose myotonia congenita and provide additional information about the specific genetic changes causing the condition. OMIM provides resources for genetic testing laboratories, including information on available tests and their associated references.

OMIM also provides scientific articles and references from PubMed that are related to the CLCN1 gene and myotonia congenita. These articles can provide valuable insight into the genetic changes and associated health implications of this disorder.

In addition to the CLCN1 gene, OMIM catalogs a wide range of other genes and diseases. The catalog includes names, descriptions, and information on the genetic changes associated with various conditions. It also provides information on related genes, their structures, and the ions or channels they are involved with.

OMIM serves as a central registry for genetic information, linking genes, diseases, and associated genetic changes. This comprehensive catalog of genes and diseases is an invaluable resource for researchers and healthcare professionals in understanding and studying genetic disorders.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for accessing information on genetic conditions and the associated genes. It provides information on genetic testing, scientific articles, and references from PubMed, as well as comprehensive cataloging of genes and diseases. Researchers and healthcare professionals can utilize this resource to further their understanding of genetic disorders and develop targeted treatments.

Gene and Variant Databases

There are several genetic and variant databases available that provide information about the CLCN1 gene and its related conditions. These databases are valuable resources for scientific research, genetic testing, and health care.

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that catalogs genetic disorders and their associated genes. It provides information on the CLCN1 gene and myotonia congenita, listing the various genetic changes and their effects. OMIM is widely used by researchers and clinicians for referencing genetic information.
  • ClinVar: ClinVar is a freely accessible database of genetic variations and their clinical significance. It provides a curated collection of variant data, including those related to the CLCN1 gene. ClinVar helps in understanding the impact of genetic changes on health conditions and assists in genetic testing and interpretation.
  • GeneReviews: GeneReviews is a comprehensive resource that provides expert-authored, peer-reviewed articles on genetic disorders. It offers in-depth information on myotonia congenita and other related conditions, including the CLCN1 gene. GeneReviews is a valuable tool for both healthcare professionals and individuals seeking reliable information on genetic diseases.
  • PubMed: PubMed is a database of scientific literature, including research articles related to genetics and the CLCN1 gene. It allows users to search for specific topics, including myotonia congenita and chloride channel genes. PubMed provides additional scientific information and citation references for further exploration.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central repository of genetic tests and their associated information. It includes tests for myotonia congenita and related conditions, listing laboratories and available tests. GTR helps healthcare providers and individuals find appropriate genetic testing resources.

In summary, these gene and variant databases offer a wealth of information on the CLCN1 gene, myotonia congenita, and related conditions. They provide a structured and comprehensive overview of genetic changes, disease characteristics, and testing resources, contributing to the understanding and management of these disorders.

References

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