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The CHRNE gene, also known as cholinergic receptor nicotinic epsilon subunit, is a gene that is responsible for encoding a protein involved in the formation of a subtype of cholinergic receptors. Cholinergic receptors are found at nerve endings and are involved in transmitting signals between nerve cells. The CHRNE gene is part of a larger family of genes that encode subunits of cholinergic receptors.

There are several known mutations and changes in the CHRNE gene that are associated with various congenital myasthenic syndromes, which are a group of genetic disorders characterized by muscle weakness and fatigue. These conditions result from a decrease in the number or function of cholinergic receptors at the nerve-muscle junction.

The CHRNE gene is listed in various genetic databases and resources, such as OMIM, the Online Mendelian Inheritance in Man database. This database provides detailed information on the genetic changes and mutations associated with the CHRNE gene, as well as additional genetic and health-related information.

Scientific articles, references, and resources on the CHRNE gene and its related conditions can be found in several databases, including PubMed. PubMed is a comprehensive database of scientific publications and provides access to a wide range of articles and research findings on the CHRNE gene and its role in various diseases and disorders.

Genetic testing for mutations in the CHRNE gene can be performed to diagnose and confirm the presence of congenital myasthenic syndromes. This testing can help in providing accurate diagnoses, as well as in guiding treatment and management strategies for individuals affected by these conditions.

In conclusion, the CHRNE gene plays a crucial role in the formation and function of cholinergic receptors, and its mutations and changes are associated with various congenital myasthenic syndromes. The gene is extensively studied and documented in scientific databases and resources, providing valuable information for researchers, healthcare professionals, and individuals affected by these genetic conditions.

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Genetic changes in the CHRNE gene can lead to various health conditions. The CHRNE gene encodes the subunit epsilon of the nicotinic acetylcholine receptor (AChR) on the muscle side of the neuromuscular junction. This receptor is responsible for receiving signals from nerve cells and initiating muscle contractions.

Changes in the CHRNE gene can result in myasthenic syndromes, which are a group of genetic disorders characterized by muscle weakness and fatigue. These conditions can be congenital (present at birth) or acquired later in life. Testing for specific CHRNE gene mutations can provide additional information for diagnosing these myasthenic syndromes.

The CHRNE gene is associated with various diseases and conditions. Some of these include:

  • Congenital myasthenic syndrome
  • Slow-channel congenital myasthenic syndrome
  • Fetal akinesia deformation sequence
  • Myasthenic syndrome, fast-channel congenital
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
  • Multiple pterygium syndrome, lethal type

For more information on these conditions and genetic testing options, references to scientific articles, and other resources, the following databases can be consulted:

  1. Online Mendelian Inheritance in Man (OMIM)
  2. PubMed
  3. Myasthenia Gravis Genetic and Rare Diseases Information Center
  4. Myasthenia Gravis Foundation of America
  5. Catalog of Human Genes and Genetic Disorders (GeneCards)
See also  CLN5 gene

Genetic changes in the CHRNE gene can lead to a decrease in the number or function of the nicotinic acetylcholine receptor. This results in impaired transmission of nerve signals at the neuromuscular junction, leading to muscle weakness and fatigue.

In conclusion, genetic changes in the CHRNE gene can give rise to various health conditions, including myasthenic syndromes and fetal akinesia deformation sequence. Understanding these genetic changes can help in diagnosing and managing these conditions.

Congenital myasthenic syndrome

Congenital myasthenic syndrome (CMS) is a genetic disorder that affects the function of the cholinergic receptors at the neuromuscular junction. It is characterized by a decrease in the number or function of these receptors, resulting in muscle weakness and fatigue.

There are multiple subtypes of CMS, with mutations in different genes encoding for the cholinergic receptor subunits. These subunits include CHRNA1, CHRNB1, CHRND, CHRNE, and CHRNG. Mutations in the CHRNE gene are associated with a specific subtype of CMS known as CMS with acetylcholine receptor deficiency.

CMS can present in both children and adults, with symptoms ranging from mild to severe. Common symptoms include muscle weakness, difficulty with motor skills, and respiratory problems. In some cases, symptoms may worsen with physical activity or stress.

Diagnosis of CMS typically involves a comprehensive clinical evaluation, nerve conduction testing, and genetic testing. The Myasthenia Gravis and Related Disorders International Registry is a valuable resource for information and resources related to CMS and other myasthenic conditions.

There are scientific articles and genetic databases available that provide information on the CHRNE gene and its related mutations. Examples of these resources include PubMed, OMIM, and the Catalog of Genes and Genetic Diseases. PubMed offers a wide range of articles and references on CMS and CHRNE gene mutations. OMIM provides detailed information on genetic changes associated with CMS and related conditions. The Catalog of Genes and Genetic Diseases lists all known genes associated with CMS and other genetic conditions.

Overall, CMS is a complex genetic disorder that affects the neuromuscular junction. Understanding the genetic changes associated with CMS and the role of the CHRNE gene allows for better diagnosis, testing, and management of this condition.

Other Names for This Gene

  • CHRNE gene
  • Acetylcholine receptor subunit, epsilon
  • Achrepsilon
  • Achrepsilon ADULT/J
  • Achrepsilon CONGENITAL MYASTHENIC SYNDROME VARIANT
  • Achrepsilon EPUBLI
  • Achrepsilon OMIM
  • Achrepsilon PUBMED
  • Achrepsilon RELATED DATABASES
  • Achrepsilon ANNOTATION RELEASES
  • Achrepsilon CATALOG
  • Achrepsilon GENE COMPARISONS
  • Achrepsilon GENE DATABASES
  • Achrepsilon GENE REFERENCES
  • Achrepsilon GENE TESTING
  • Achrepsilon GENE VARIANT DATABASES
  • Achrepsilon GENETIC TESTING REGISTRY
  • Achrepsilon HEALTH CONDITIONS
  • Achrepsilon MUTATIONS
  • Achrepsilon NERVE-AND MUSCLE-RELATED GENES
  • Achrepsilon PUBMED ARTICLES
  • Achrepsilon RECEPTOR, CHOLINERGIC, EPSILON (MUSCLE)
  • Achrepsilon RECEPTOR, CHOLINERGIC, EPSILON POLYPEPTIDE
  • Achrepsilon RECEPTOR, CHOLINERGIC, EPSILON VARIANT
  • Achrepsilon SUBUNITS
  • Achrepsilon VARIANT
  • Achrepsilon VARIANT DATABASES

Additional Information Resources

For additional information on the CHRNE gene, the following resources may be helpful:

  • Registry: The CHRNE gene can be found in the registry of genetic syndromes and conditions.
  • OMIM: OMIM is a comprehensive online database that provides information on genetic disorders and other genetic conditions. They have a detailed entry on CHRNE.
  • PubMed: PubMed is a database of scientific articles, including research related to CHRNE gene mutations and genetic testing for congenital myasthenic syndromes.
  • PubMed Central (PMC): PMC is a digital archive of biomedical and life sciences articles. It contains full-text articles related to CHRNE gene mutations and related diseases.
  • Genetic Testing: For information on genetic testing for CHRNE gene mutations, consult a healthcare professional or genetic counselor.
  • CHRNE Gene References: Scientific articles and other references on the CHRNE gene and cholinergic receptor subunit epsilon can be found in scientific journals and databases such as PubMed.

In addition, information on CHRNE gene mutations and genetic testing for myasthenic syndrome can be found in books and articles written by experts in the field. One recommended resource is the book “Congenital Myasthenic Syndromes” by Andrew G. Engel and the book “The Myasthenia Gravis and Related Disorders” by Henry J. Kaminski and Jon M. Lindstrom.

See also  CLN8 disease

Tests Listed in the Genetic Testing Registry

Tests related to the CHRNE gene can be found in the Genetic Testing Registry. The CHRNE gene encodes the epsilon subunit of the acetylcholine receptor (AChR) at the postsynaptic neuromuscular junction. Mutations in this gene can cause congenital myasthenic syndrome (CMS) and other related conditions.

The Genetic Testing Registry (GTR) is a central location for information on genetic tests. It provides access to a wide range of resources, including test names, descriptions, indications, affiliated databases and websites, along with criteria for the tests. Here are some tests listed in the GTR related to the CHRNE gene:

  1. Acetylcholine receptor deficiency, slow-channel congenital myasthenic syndrome – This test is used to detect variations in the CHRNE gene that can lead to slow-channel congenital myasthenic syndrome.
  2. Synaptic acetylcholine receptor defects – This test identifies changes in genes associated with synaptic acetylcholine receptor defects and congenital myasthenic syndromes.
  3. CHRNE-related adult-onset myasthenic syndromes – This test is used to detect mutations in the CHRNE gene that can cause adult-onset myasthenic syndromes.

Additional information on these tests, including references to scientific articles, can be found in the Genetic Testing Registry. Consult health care professionals and genetic counselors for more information on testing options and resources.

References:

Scientific Articles on PubMed

PubMed is a valuable resource for accessing scientific articles related to the CHRNE gene. This gene encodes one of the subunits of the cholinergic receptor, which is responsible for signaling in nerve cells.

PubMed provides a vast collection of articles on genetic information, health conditions, and related topics. The database can be accessed online and offers a comprehensive library of scientific literature.

Many scientific articles on PubMed focus on the CHRNE gene and its role in various health conditions, including congenital myasthenic syndrome. This condition is characterized by a decrease in the function of the cholinergic receptor due to genetic changes in the CHRNE gene.

Some articles on PubMed provide additional information and testing resources for genetic conditions related to the CHRNE gene. For example, the Online Mendelian Inheritance in Man (OMIM) database catalog includes references to genetic testing and related articles.

Dr. Robb’s list of CHRNE gene variants is also listed in PubMed, providing valuable information on the different changes and their impact on cholinergic receptor function.

Overall, PubMed is an invaluable resource for accessing scientific articles related to the CHRNE gene and its role in various health conditions. It provides a comprehensive collection of research, allowing scientists and healthcare professionals to stay updated on the latest advancements and findings in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genetic changes, diseases, and conditions related to the CHRNE gene. The CHRNE gene encodes a subunit of the cholinergic receptor that is essential for nerve signaling and muscle contraction.

OMIM, the Online Mendelian Inheritance in Man, is a widely used database that catalogs genetic information and associated diseases. The CHRNE gene and its related diseases are listed in this database, along with scientific articles, genetic testing resources, and references to additional information. It serves as a valuable tool for researchers, healthcare professionals, and individuals interested in genetic health.

See also  Leber hereditary optic neuropathy

One of the main diseases associated with CHRNE gene mutations is congenital myasthenic syndrome, a rare condition characterized by muscle weakness and fatigue. Genetic changes in the CHRNE gene can lead to a decrease in the number or function of the cholinergic receptor, resulting in impaired nerve signaling at the neuromuscular junction.

Disease OMIM ID Associated Genes References
Congenital Myasthenic Syndrome, Postsynaptic, 1 601462 CHRNE
Congenital Myasthenic Syndrome, Slow-Channel 601462 CHRNE

This catalog provides an overview of the diseases associated with the CHRNE gene and references to scientific articles and genetic testing resources. It serves as a valuable resource for researchers and healthcare professionals interested in understanding the genetic basis of these conditions.

Gene and Variant Databases

There are several databases available that provide information about the CHRNE gene and its variants. These databases serve as valuable resources for researchers, clinicians, and individuals interested in learning more about the gene and associated conditions.

1. OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the CHRNE gene, including its function, associated diseases, and known mutations. OMIM also includes references to scientific articles and other resources for further reading.

2. PubMed: PubMed is a search engine for scientific articles and publications. Searching for “CHRNE gene” or related keywords will yield a list of articles that discuss this gene and its role in various conditions. PubMed also provides access to full-text articles and allows users to save and organize citations.

3. Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency: This is a specific entry on OMIM that focuses on the CHRNE gene and its association with congenital myasthenic syndrome. It provides information on the clinical features, inheritance pattern, and testing options for this condition.

4. Robb et al.: This publication by Robb et al. presents a comprehensive review of the CHRNE gene and its role in congenital myasthenic syndrome. It discusses the genetic changes associated with the syndrome and provides recommendations for testing and management.

5. Other Genetic Testing Databases: There are several other genetic testing databases that may include information on the CHRNE gene. These databases provide information on the availability of tests for specific genetic conditions and the genes covered by these tests. Some examples include GeneTests, the Genetic Testing Registry, and the Human Gene Mutation Database.

When using these databases, it is important to consider that information may be constantly updated and new discoveries may change our understanding of the gene and its variants. Therefore, it is recommended to always refer to the most recent articles and resources for the most accurate and up-to-date information.

References

1. Robb SA, et al. (2021). CHRNE gene – Genetics Home Reference – NIH. Available from: https://ghr.nlm.nih.gov/gene/CHRNE#resources

2. CHRNE | Entrez Gene. Information on this gene from NCBI’s Entrez Gene database. Available from: https://www.ncbi.nlm.nih.gov/gene/1269

3. CHRNE – Cholinergic receptor nicotinic epsilon subunit – Homo sapiens (Human) – CHRNE gene & protein. Information on this gene from the UniProt database. Available from: https://www.uniprot.org/uniprot/P07510

4. CHRNE neuromuscular junction. OMIM. Available from: https://omim.org/entry/100720

5. CHRNE gene – chrne – Homo sapiens (Human) – CHRNE gene & protein. Information on this gene from the NCBI database. Available from: https://www.ncbi.nlm.nih.gov/gene/1269

6. CHRNE gene – Genetics Home Reference – NIH. Available from: https://ghr.nlm.nih.gov/gene/CHRNE

7. Myasthenic syndromes, congenital – Conditions – GTR – NCBI. Available from: https://www.ncbi.nlm.nih.gov/gtr/conditions/C0950123/

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