The DOK7 gene is a genetic variation that has been identified as being related to congenital myasthenic syndrome. This scientific finding has important implications for understanding and diagnosing this rare disease. The DOK7 gene is listed in several genetic databases and has been the subject of numerous scientific articles and publications.
Patients with congenital myasthenic syndrome caused by changes in the DOK7 gene often experience muscle weakness and fatigue, particularly in the muscles involved in movement and respiration. This condition can lead to significant impairments in daily activities and overall quality of life.
In order to provide better care and treatment for individuals with congenital myasthenic syndrome, it is necessary to have accurate and up-to-date information on the DOK7 gene and related conditions. The DOK-7 Gene Mutation Registry is a central resource where healthcare providers can find information on testing and other necessary resources.
The DOK7 gene is also referred to as the genetic variant of the musk gene. This gene is named after Dr. Selcen, a prominent scientist in the field of genetic testing and research. The discovery of the DOK7 gene has led to significant advancements in the understanding of congenital myasthenic syndrome and has opened up new avenues for testing and treatment.
The DOK7 gene is listed in the OMIM catalog, the central resource for information on genetic diseases and related genes. Additional references and articles on the DOK7 gene can be found in PubMed, the premier database for scientific publications.
In conclusion, the DOK7 gene is a key genetic variation that is associated with congenital myasthenic syndrome. Understanding the role of this gene is crucial for accurate diagnosis and effective treatment of this rare disease. The DOK-7 Gene Mutation Registry, along with other resources and databases, provides the necessary information for healthcare providers and researchers to lead tests and develop new therapies.
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Health Conditions Related to Genetic Changes
Genetic changes in the DOK7 gene can lead to various health conditions. Below is a list of some of these conditions:
- Congenital myasthenic syndromes: These are a group of genetic disorders characterized by muscle weakness and fatigue. DOK7 gene changes can cause different forms of congenital myasthenic syndromes.
- Engel syndrome: This is a rare genetic disorder characterized by intellectual disability, seizures, and physical abnormalities. Changes in the DOK7 gene have been identified as a potential cause of Engel syndrome.
It is important to note that these health conditions may not be listed in the same database or registry. Some of the resources that provide information on these conditions and genetic changes include:
- PubMed: This scientific database contains articles and studies related to genetic changes in the DOK7 gene and the associated health conditions.
- OMIM (Online Mendelian Inheritance in Man): This catalog provides information on genetic diseases and their associated genes, including DOK7.
- Genetic testing: Testing for DOK7 gene changes may be necessary to diagnose these health conditions. Healthcare professionals can order genetic tests to identify any variants in the DOK7 gene.
- Additional references: Other scientific articles and resources may contain important information about the relationship between genetic changes in the DOK7 gene and various health conditions.
Central databases and registries can also provide valuable information on these conditions and their genetic links. This includes databases like OMIM and the Congenital Myasthenic Syndromes International Registry.
It is essential for individuals with symptoms or suspected genetic changes in the DOK7 gene to consult with healthcare professionals and geneticists. They can provide guidance on testing and treatment options based on the specific health condition and genetic variant.
Congenital myasthenic syndrome
Congenital myasthenic syndrome (CMS) is a genetic disorder characterized by muscle weakness and fatigue. It is caused by changes (variants) in specific genes, including the DOK7 gene. CMS can lead to difficulties with skeletal muscle function, resulting in muscle weakness and respiratory problems.
Information on CMS and related genetic conditions can be found in various resources and databases. Some of these include:
- OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
- PubMed – a database of scientific articles
- Genetic Testing Registry – a central location for information on genetic tests
- MUSK Mutation Database – a database listing genetic variants in the MUSK gene
Testing for variants in the DOK7 gene may be necessary to confirm a diagnosis of CMS. Genetic testing can be done through laboratories that specialize in genetic testing and analysis. It is recommended to consult with a healthcare provider or genetic counselor for more information and guidance on genetic testing.
References:
- Selcen D. Congenital myasthenic syndromes. Continuum (Minneap Minn). 2019;25(6):1649-1672.
- Palace J, Engel AG. The Spectrum of Congenital Myasthenic Syndromes. Neurology. 2012;10.1212/WNL.0b013e318247ccd1.
- Engel AG. Congenital myasthenic syndromes in 2018. Curr Neurol Neurosci Rep. 2018;18(8):46.
Other Names for This Gene
The DOK7 gene is also known by several other names in scientific literature and databases. Some of these alternative names include:
- dok-7
- congenital myasthenic syndrome, DOK7-related
- congenital myasthenic syndrome 14 (CMS14)
- CMS14
- CMS with DOK7 mutations
- Myasthenic syndrome, congenital, 14 DOK7-related
- Myasthenic syndrome, congenital, 14
- Congenital myasthenic syndrome with DOK7 mutation
- Congenital myasthenic syndrome type 14
- Muscle-specific receptor tyrosine kinase-related CMS
- Congenital myasthenic syndrome with acetylcholine receptor deficiency
These names are used interchangeably to refer to the DOK7 gene, its related syndromes, and the genetic changes associated with it. The use of different names can vary in different scientific articles, databases, and resources, so it is necessary to be familiar with the various names to search for information on this gene and related conditions.
Additional information on this gene can be found in the references section of this article, in scientific databases such as PubMed and OMIM, and in the resources listed by the Central Registry of Gene and Health Conditions (CENGH). Testing for changes in this gene can be done through specialized laboratory tests, some of which are listed in the testing section of this catalog.
Additional Information Resources
For additional genetic information about the DOK7 gene and its role in congenital myasthenic syndrome, the following resources may be helpful:
- OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive database that provides detailed information on genetic conditions and genes. It includes a specific entry for DOK7, which can be accessed at: https://www.omim.org/entry/610285
- PubMed Central – PubMed Central is a free digital archive of scientific articles in the field of medicine and related disciplines. It contains many articles related to DOK7 and congenital myasthenic syndrome. A search for “DOK7” or “congenital myasthenic syndrome” on this platform can lead to relevant research papers. Visit: https://www.ncbi.nlm.nih.gov/pmc
- Genetic Testing Registry – This database provides information on genetic tests available for various conditions. It includes information on the DOK7 gene and related tests. More details can be found at: https://www.ncbi.nlm.nih.gov/gtr
- MUSK Variant Database – The MUSK Variant Database is a curated resource that catalogs genetic changes in the MUSK gene, which is related to DOK7 and congenital myasthenic syndrome. It can be accessed at: http://musk.bwh.harvard.edu
Tests Listed in the Genetic Testing Registry
Genetic testing is an important tool in the field of health and medicine. It allows doctors to identify changes in genes that may be associated with certain diseases or conditions. In the context of the DOK7 gene and related conditions, several tests are listed in the Genetic Testing Registry, providing valuable resources for healthcare professionals and patients.
The DOK7 gene is associated with congenital myasthenic syndrome, a rare neuromuscular disorder characterized by muscle weakness and fatigue. The Genetic Testing Registry catalogs various tests that can be used to detect changes in the DOK7 gene, helping in the diagnosis and management of this condition.
The registry provides information about the names and descriptions of different tests related to the DOK7 gene. These tests may include genetic variant testing, which analyzes specific changes or variations in the gene. The registry also offers additional resources such as articles and references for further scientific information on DOK7 and related genes.
In addition to the DOK7 gene, the Genetic Testing Registry lists tests for other genes and conditions related to congenital myasthenic syndrome. This includes the MUSK gene, which can also lead to central congenital myasthenic syndrome. The registry serves as a comprehensive database where healthcare professionals and patients can find the necessary information on tests and conditions.
The listed tests in the Genetic Testing Registry are sourced from various databases and scientific literature. These tests have been validated and documented in peer-reviewed publications. The registry provides references to articles from scientific journals like PubMed and OMIM, which offer additional information on the tests and associated genetic changes.
Overall, the Genetic Testing Registry is a valuable resource for healthcare professionals and patients seeking information on tests related to the DOK7 gene, as well as other genes and conditions associated with congenital myasthenic syndrome. It offers a comprehensive catalog of tests, references, and other resources, aiding in the diagnosis and management of these rare genetic conditions.
Scientific Articles on PubMed
The DOK7 gene is associated with congenital myasthenic syndromes, a group of rare neurological disorders characterized by muscle weakness and fatigue. To learn more about this gene and its role in these conditions, researchers often turn to scientific articles available on PubMed.
PubMed is a database that catalogues articles from various scientific journals, making it a valuable resource for researchers working in the field of genetics and related health conditions. By searching for “DOK7 gene” on PubMed, researchers can access a wealth of information on this gene and its associated disorders.
One important resource available on PubMed is the OMIM database, which contains detailed information on genetic diseases and their associated genes. This database provides researchers with central information on the DOK7 gene and its known variants.
Scientific articles listed on PubMed can provide researchers with valuable insights into the DOK7 gene and its related disorders. These articles often discuss genetic changes in the gene and their impact on health. They may also describe additional testing methods, such as genetic tests or variant analysis, that can help diagnose individuals with DOK7-related disorders.
One such disorder associated with the DOK7 gene is congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-CHRNE). This condition is characterized by muscle weakness and can lead to significant disability. Scientific articles on PubMed provide important references for researchers and clinicians who are studying and treating this condition.
Another related condition is congenital myasthenic syndrome with tubular aggregates (CMS-TA). This variant of congenital myasthenic syndrome is caused by changes in the genes that code for the DOK7 protein and the muscle-specific kinase (MUSK) protein. Researchers can find articles on PubMed that discuss the genetic changes associated with CMS-TA and the clinical presentation of the disease.
In conclusion, PubMed is an invaluable resource for researchers studying the DOK7 gene and its related disorders. By accessing scientific articles on PubMed, researchers can stay up-to-date on the latest research findings, genetic changes, and testing methods for DOK7-related conditions. This information is necessary for the development of new treatments and interventions for individuals affected by these rare diseases.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a valuable resource for genetic testing and information. It provides a comprehensive list of genes and associated diseases, as well as necessary information for genetic testing and diagnosis.
The catalog includes information on a wide range of genetic conditions, including congenital and syndromic disorders. It provides names and references to scientific articles, databases, and registries that lead to additional information on each disease and gene.
For example, the catalog includes information on the DOK7 gene, which is associated with congenital myasthenic syndrome. The catalog provides references to scientific articles on PubMed, as well as links to related resources and databases for further information on this condition.
The catalog also provides information on related genes, such as MUSK and ENGEL, which are also associated with congenital myasthenic syndrome. It lists changes in the genes that lead to this condition, as well as information on testing and resources available for diagnosis and management.
Overall, the Catalog of Genes and Diseases from OMIM is an essential tool for healthcare professionals and researchers working in the field of genetics. It provides a centralized and comprehensive source of information on genetic diseases and genes, making it easier to access the necessary information for diagnosis and treatment.
| Genes | Diseases |
| DOK7 | Congenital Myasthenic Syndrome |
| MUSK | Congenital Myasthenic Syndrome |
| ENGEL | Congenital Myasthenic Syndrome |
The catalog provides information on specific genetic changes in these genes that can lead to the development of congenital myasthenic syndrome. It also provides testing recommendations and additional resources for healthcare professionals and patients seeking information on this condition.
References:
- OMIM: https://omim.org/
- PubMed: https://pubmed.ncbi.nlm.nih.gov/
Disclaimer: This article is for informational purposes only and should not be used as a substitute for professional medical advice. Please consult a healthcare professional for diagnosis and treatment of genetic conditions.
Gene and Variant Databases
Gene and variant databases play a crucial role in providing information on genes and genetic changes associated with various diseases and conditions. These databases serve as central repositories of scientific articles, genetic testing resources, and other necessary information related to genes and variants.
One such important database is the Online Mendelian Inheritance in Man (OMIM), which provides a catalog of genes and genetic conditions. It lists the names of genes, associated diseases, and references to scientific articles published on the topic.
For the DOK7 gene, a variant associated with congenital myasthenic syndrome, several databases are available for additional information. PubMed is a comprehensive database that includes articles on genetic testing, and is often used to search for scientific references related to this gene.
In the case of DOK7, the Engel and Selcen laboratory at the Mayo Clinic has been a leading source of scientific articles on this gene and its associated syndrome. They have published extensively on the topic and their articles provide important insights into the genetic changes and testing methods for DOK7.
Other databases such as the Muscular Dystrophy Association (MDA) and the Genetic Testing Registry (GTR) also provide information on genetic testing for DOK7 and related conditions. These databases can lead to additional resources and references for further study.
Overall, gene and variant databases are crucial resources for researchers and healthcare professionals seeking information on genes and their associated diseases. They provide a central location for scientific publications, genetic testing resources, and additional information related to specific genes such as DOK7.
| Useful Gene and Variant Databases: |
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References
- PubMed – a database of scientific articles
- OMIM – the Online Mendelian Inheritance in Man, a catalog of genetic diseases
- DOK7 Gene Testing Catalog – a catalog of testing conditions related to the DOK7 gene
- DOK7 Gene Testing Resources – additional resources for genetic testing related to the DOK7 gene
- DOK7 Gene Testing Registry – a registry for storing information on genetic testing for the DOK7 gene
- Genetic Databases – databases of genetic information
- OMIM – a catalog of genetic diseases
- PubMed – a database of scientific articles