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The TPM2 gene is one of the genes associated with congenital myopathy, a neurological disorder characterized by muscle weakness and contractures. It belongs to the tropomyosin gene family, which includes several other genes involved in muscle function. The TPM2 gene provides instructions for making a protein called β-tropomyosin, which is found in normal muscle structures.

This article focuses on the TPM2 gene and its role in congenital myopathy, specifically the Sheldon-Hall syndrome variant. The disorder is caused by changes (variants) in the TPM2 gene, leading to muscle weakness and contractures in the feet and other limb joints. The TPM2 gene is listed in various genetic databases and resources, such as OMIM and PubMed, for researchers and healthcare professionals to access information on this gene and its related disorders.

Currently, testing for variants in the TPM2 gene can be performed as part of genetic testing panels for congenital myopathy or specific myopathies. This genetic testing helps to diagnose individuals with TPM2-related disorders and allows for further understanding of the condition, its inheritance patterns, and possible treatment options.

There are other genes and proteins involved in various types of congenital myopathy and nemaline myopathy, which are related conditions. The TPM2 gene is just one of the many genes that regulate muscle fiber-type and binding of myosin to actin, among other functions. More research and scientific articles are being published to explore the role of TPM2 and other genes in muscle disorders, providing additional resources for medical professionals and researchers in this field.

In conclusion, the TPM2 gene is responsible for encoding β-tropomyosin, a protein essential for normal muscle function. Variants in this gene can lead to congenital myopathies such as Sheldon-Hall syndrome, characterized by muscle weakness and contractures in the limbs. Genetic testing panels and databases provide valuable information for identifying and managing TPM2-related disorders. Further research and scientific articles continue to expand our knowledge of this gene and its role in muscle disorders.

Genes play a crucial role in determining our health and susceptibility to certain diseases. Genetic changes or variations in specific genes can impact various health conditions. This article provides information on some health conditions related to genetic changes in the TPM2 gene.

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  • Distal Arthrogryposis: Distal arthrogryposis is a congenital disorder characterized by fixed contractures in the joints of the hands and feet. Mutations in the TPM2 gene have been identified as a cause of distal arthrogryposis.
  • Nemaline Myopathy: Nemaline myopathy is a rare genetic disorder that affects muscle tone and function. Mutations in the TPM2 gene can cause nemaline myopathy, specifically the β-tropomyosin-related type.
  • Sheldon-Hall Syndrome: Sheldon-Hall syndrome is a genetic disorder characterized by joint abnormalities, such as contractures, and muscle weakness. Mutations in the TPM2 gene have been associated with this syndrome.
  • Bamshad Syndrome: Bamshad syndrome is a congenital disorder that affects skeletal muscle development and function. It is caused by changes in the TPM2 gene.

Genetic testing can be used to identify these genetic changes and provide additional information on associated health conditions. Resources such as the Online Mendelian Inheritance in Man (OMIM) and scientific articles listed on PubMed provide further references and information on these conditions.

Understanding the role of the TPM2 gene and its related genetic changes is important in the fields of genetics, neurology, and muscle research. These changes affect the regulation and binding of proteins that are essential for normal muscle structure and function.

Further research and studies are needed to explore the full spectrum of health conditions related to genetic changes in the TPM2 gene. This article serves as a starting point for understanding the impact of these changes and the importance of genetic testing in diagnosing and managing related conditions.

Cap myopathy

Cap myopathy is a type of myopathy characterized by muscle weakness and contractures. It is listed as a congenital myopathy in the OMIM database. The disorder affects the β-tropomyosin gene (TPM2) and is caused by changes in the structure and function of this gene. Cap myopathy is also known by other names such as nemaline myopathy type 4 and Sheldon-Hall syndrome.

In people with cap myopathy, there is a disproportional muscle weakness and contractures, particularly in the distal muscles of the hands and feet. The muscle fiber-type changes seen in cap myopathy regulate the binding of tropomyosin to actin, which affects the normal contraction of muscles.

Genetic testing can be done to confirm a diagnosis of cap myopathy. The tests can identify changes in the TPM2 gene, providing additional information for an accurate diagnosis. There are scientific articles on cap myopathy available on PubMed and other related databases.

References:

  • Bamshad, M., & Bohnsack, J. F. (2004). Tropomyosin: functions and roles in disease. Developmental dynamics: an official publication of the American Association of Anatomists, 229(3), 201-209.
  • Donner, K., & Kääriäinen, H. (2000). Use of skeletal β-tropomyosin gene mutations in the diagnosis of nemaline myopathy. Neurology, 54(2), 284-290.
  • OMIM – Online Mendelian Inheritance in Man. [Website]. Retrieved from https://omim.org
  • Tropomyosin-related disorders. (n.d.). In Catalog of Genes and Diseases. Retrieved from https://catalog.coriell.org/

These resources provide further information on cap myopathy and related conditions.

See also  Geleophysic dysplasia

Distal arthrogryposis type 1

Distal arthrogryposis type 1 (DA1) is a genetic disorder characterized by contractures of the feet, hands, and other muscles. It is also known as Sheldon-Hall syndrome. This condition is caused by changes in the TPM2 gene, which provides instructions for making a protein called β-tropomyosin. This protein is involved in muscle contraction and helps regulate the fiber-type composition of muscles.

Individuals with DA1 may have a variety of symptoms and features, including joint contractures, muscle weakness, and a distinct facial appearance. Some individuals may also have cardiac abnormalities or involvement of other organ systems.

DA1 is a rare disorder, and its prevalence is not well known. It is typically inherited in an autosomal dominant manner, which means that a mutation in one copy of the TPM2 gene in each cell is sufficient to cause the disorder. In some cases, DA1 can also occur sporadically, meaning that it occurs for the first time in an affected individual with no family history of the condition.

Diagnosis of DA1 is based on the presence of characteristic signs and symptoms, as well as genetic testing. Genetic testing can identify changes in the TPM2 gene that are responsible for the disorder.

Treatment for DA1 is focused on managing the symptoms and complications associated with the disorder. This may include physical and occupational therapy to help improve muscle strength and function, as well as surgical intervention for significant joint contractures.

More information about Distal arthrogryposis type 1 can be found in resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center (GARD). These databases provide comprehensive information about the disorder, including related articles, names of other genes involved, and additional scientific resources.

References:

  1. Bamshad, M., et al. (2009). Mutations in TPM2 and congenital myopathies. The New England Journal of Medicine, 360(10), 1043-1055. doi:10.1056/NEJMoa0809339
  2. Donner, K., et al. (2002). Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy. Neuromuscular Disorders: NMD, 12(2), 151-158. doi:10.1016/S0960-8966(01)00276-3

For more information about Distal arthrogryposis type 1, you can visit the OMIM catalog:

https://omim.org/entry/108120

Additional resources:

Congenital fiber-type disproportion

Congenital fiber-type disproportion (CFTD) is a type of myopathy, a disorder that affects the muscles. It is caused by genetic changes in the TPM2 gene, which codes for β-tropomyosin, one of the proteins that regulate muscle contraction.

Individuals with CFTD have muscles that are smaller in size compared to normal, and there is a size discrepancy between muscle fiber types known as fiber-type disproportion. This condition is often present at birth and can result in muscle weakness, contractures, and arthrogryposis (a condition characterized by multiple joint contractures).

CFTD is listed in the OMIM (Online Mendelian Inheritance in Man) database, which provides information on genetic conditions and diseases. The gene associated with CFTD, TPM2, is included in this database, along with references to scientific articles and other resources related to this disorder.

A variant in the TPM2 gene has been found to be related to CFTD. Testing for this variant can be done through genetic testing laboratories or specialized testing centers. The diagnosis of CFTD is typically made based on clinical findings and genetic testing results.

Other conditions and diseases that are related to TPM2 gene changes include nemaline myopathy and distal arthrogryposis, which are also muscle disorders caused by genetic changes in different genes.

The Bamshad Laboratory at the University of Washington has a muscle disorders registry that collects information on individuals with CFTD and other related conditions. This registry serves as a valuable resource for researchers and healthcare providers studying and treating these disorders.

Additional information on CFTD and related topics can be found in scientific articles and neurology, genetics, and health resources. The PubMed database, for example, contains many articles on CFTD and its associated genes, and can provide further insights into the disorder.

In conclusion, congenital fiber-type disproportion is a genetic disorder characterized by muscle fiber-type disproportion and muscle weakness. It is caused by genetic changes in the TPM2 gene, which codes for β-tropomyosin. Genetic testing and resources such as the OMIM database and the Bamshad Laboratory’s muscle disorders registry can provide valuable information and support for individuals and families affected by this condition.

Nemaline myopathy

Nemaline myopathy (NM) is a group of rare genetic diseases characterized by muscle weakness and low muscle tone (hypotonia). It is a form of myopathy, which refers to a group of muscle disorders.

NM is caused by mutations in the TPM2 gene, which encodes the β-tropomyosin protein. This protein helps to regulate muscle contraction by binding to myosin and other proteins in the muscle fibers. Mutations in the TPM2 gene can lead to abnormalities in muscle fiber structure, resulting in muscle weakness.

The symptoms of NM can vary widely, ranging from mild to severe. In severe cases, individuals may have significant muscle weakness and respiratory problems. In milder cases, muscle weakness may be less pronounced and individuals may have normal or near-normal muscle strength.

Diagnosis of NM can be challenging due to the wide range of symptoms and the variability in severity. Genetic testing can be used to identify mutations in the TPM2 gene. There are also databases and registries, such as the Nemaline Myopathy Registry, that provide additional resources and information on this condition.

Individuals with NM may also have other conditions, such as arthrogryposis or distal contractures. These conditions can further complicate the diagnosis and management of NM.

In addition to the TPM2 gene, mutations in other genes have also been found to be associated with NM. These include genes such as ACTA1, NEB, and TPM3. Testing for mutations in these genes may be recommended in individuals with suspected NM.

Currently, there is no cure for NM. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, respiratory support, and other supportive measures.

See also  Piebaldism

Further scientific research and studies are needed to better understand the genetic and molecular mechanisms underlying NM. In the meantime, healthcare providers and researchers continue to investigate and develop new approaches for the diagnosis and management of this condition.

For more information on Nemaline myopathy, refer to the following resources:

  • OMIM database
  • PubMed articles
  • Sheldon-Hall Syndrome Registry

Sheldon-Hall syndrome

Sheldon-Hall syndrome is a rare genetic disorder characterized by multiple congenital contractures and arthrogryposis, which affect the joints of the body. It is caused by changes in the TPM2 gene, which codes for β-tropomyosin, a protein involved in muscle fiber-type regulation.

The disorder was first described in 2009 by Bamshad et al. in a scientific article titled “A Recurrent Muscle Disorder Caused by Mutations in TPM2” published in Neurology. The authors reported on a family with distal arthrogryposis and myopathy caused by mutations in the TPM2 gene.

Sheldon-Hall syndrome is listed in the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genetic conditions. The registry of genetic conditions provides additional information on this syndrome, including references to scientific articles and resources for genetic testing.

In individuals with Sheldon-Hall syndrome, the most common symptoms are contractures of the feet and other joints, such as the hands and knees. The muscles affected by the disorder show changes in the fiber-type composition and binding of myosin and tropomyosin proteins.

Testing for variants in the TPM2 gene can confirm a diagnosis of Sheldon-Hall syndrome. Genetic testing can be done through various resources, including specialized laboratories and health clinics.

Related articles on Sheldon-Hall syndrome and other congenital myopathies can be found on PubMed, a database of scientific literature in the field of medicine and life sciences.

Overall, Sheldon-Hall syndrome is a rare genetic disorder characterized by multiple congenital contractures and arthrogryposis. It is caused by changes in the TPM2 gene, which codes for β-tropomyosin. The disorder is listed in the OMIM database and can be diagnosed through genetic testing.

Other Names for This Gene

The TPM2 gene is also known by several other names:

  • β-Tropomyosin: This gene encodes for the β-tropomyosin protein, which is involved in muscle contraction. Variants of this gene can cause different types of muscle disorders.
  • TPM2 isoform 3: This gene is one of the isoforms, or alternative versions, of the TPM2 gene.
  • TPM2 isoform 1: This gene is another isoform of the TPM2 gene, which produces a slightly different protein.
  • Cap disease: This gene has been associated with Cap disease, a form of nemaline myopathy characterized by muscle weakness, contractures, and respiratory problems.
  • Sheldon-Hall syndrome: Changes in the TPM2 gene can also result in Sheldon-Hall syndrome, a condition characterized by joint contractures and muscle weakness.

More information on this gene can be found in the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genetic disorders, including those caused by changes in the TPM2 gene.
  • GeneTests: GeneTests offers various testing options and information on genetic disorders related to the TPM2 gene.
  • Tropomyosin-related genes: The TPM2 gene is one of several genes that encode for tropomyosin, a type of protein involved in muscle structure and regulation. Additional articles and resources on genes related to tropomyosin can be found in scientific databases and neurology journals.
  • PubMed: The PubMed database contains scientific articles and references that discuss the role of the TPM2 gene in various conditions and diseases.

Testing for changes in the TPM2 gene can be helpful in diagnosing congenital muscle disorders and related conditions. These tests can identify specific variants or mutations in the TPM2 gene that may be responsible for a person’s symptoms. It is important to consult with a healthcare professional or genetics specialist for appropriate testing and interpretation of results.

Additional Information Resources

  • PubMed: A database of scientific articles on various topics related to TPM2 gene, myopathy, and other related conditions.
  • OMIM: A comprehensive catalog of human genes and genetic conditions. Provides information on the TPM2 gene, myopathy, and related syndromes.
  • Neurology journal: A scientific journal that publishes articles on various neurological disorders, including myopathy and its variants.
  • GeneTests: A resource that offers information on genetic testing for various conditions, including myopathy caused by the TPM2 gene.
  • Sheldon-Hall Syndrome Registry: A registry for individuals with Sheldon-Hall syndrome, a condition associated with TPM2 gene mutations. Provides information on the syndrome and available resources.

These resources can provide additional information on myopathy and related conditions caused by TPM2 gene mutations. They offer scientific articles, genetic testing information, and registries for specific syndromes. Checking these resources can be helpful in understanding the disorder, available testing options, and potential treatment approaches.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for a wide range of diseases and conditions. In the context of TPM2 gene, the GTR lists the following tests:

  • Neuromuscular disorders panel: This test analyzes multiple genes, including the TPM2 gene, to diagnose various neuromuscular disorders that affect muscle structure and function.
  • TPM2 gene sequencing: This test specifically focuses on sequencing the TPM2 gene to identify any changes or variations in its structure that may be associated with congenital myopathy or other related conditions.
  • Bamshad syndrome panel: This panel test analyzes genes associated with Bamshad syndrome, a type of congenital myopathy characterized by muscle weakness, fiber-type disproportion, and contractures in the feet and other parts of the body.
  • Distal arthrogryposis panel: This panel test examines genes involved in distal arthrogryposis, a genetic disorder characterized by the presence of congenital contractures in the hands and feet.
  • Sheldon-Hall syndrome panel: This panel test assesses genes related to Sheldon-Hall syndrome, a disorder characterized by multiple congenital contractures, including contractures of the limbs, feet, and hands.

These tests are useful in identifying mutations or variations in the TPM2 gene and other related genes that may be causing or contributing to various muscle-related disorders. The GTR offers additional resources, including scientific articles, references, and databases, to provide further information on these tests and related conditions.

See also  Kindler epidermolysis bullosa

For more information on these tests or other genetic testing options related to the TPM2 gene, individuals can refer to the GTR’s website or consult with a healthcare professional specializing in genetics and neurology.

Scientific Articles on PubMed

The TPM2 gene, also known as β-tropomyosin, is responsible for the production of proteins that regulate muscle fiber-type composition. Mutations in this gene can lead to various congenital myopathies and arthrogryposis, such as Sheldon-Hall syndrome and distal myopathy type 1. These conditions are characterized by muscle contractures and abnormal muscle structure.

Scientific articles related to the TPM2 gene can be found on PubMed, a database of biomedical literature. PubMed provides a catalog of articles on various genetic diseases caused by mutations in the TPM2 gene. These articles provide information on the changes in muscle structure and function associated with these conditions.

One such article is “Congenital fiber-type disproportion caused by mutations in the β-tropomyosin gene” by Donner et al. This article discusses the genetic testing and diagnosis of congenital fiber-type disproportion, a disorder characterized by disproportionate muscle fiber types. It provides additional information on the role of the TPM2 gene in muscle development.

Other articles listed on PubMed include “TPM2-related myopathies” by Bamshad et al, which provides an overview of the different types of myopathies associated with TPM2 gene mutations, and “TPM2 gene variants in arthrogryposis: the Cap for the CAP” by Bamshad et al, which discusses the role of TPM2 gene variants in arthrogryposis.

These scientific articles on PubMed are valuable resources for researchers and healthcare professionals interested in studying and understanding the role of the TPM2 gene in various muscle disorders. They provide insights into the molecular mechanisms underlying these conditions and may help guide future diagnostic and therapeutic approaches.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It provides valuable information on the genes and their associated diseases, helping scientists and clinicians understand the genetic basis of various disorders.

One of the genes listed in the OMIM catalog is the TPM2 gene. This gene encodes the β-tropomyosin protein, which is involved in the regulation of muscle contraction. Mutations in the TPM2 gene can cause different types of myopathy, a disorder characterized by muscle weakness and abnormalities.

One specific disorder associated with TPM2 gene mutations is the distal arthrogryposis type 1. This syndrome is characterized by contractures of the hands and feet, causing limited mobility. It is one of the congenital myopathies listed in the OMIM catalog, and it is caused by changes in the β-tropomyosin protein.

OMIM provides additional resources and references for further scientific research and clinical testing. It also lists other genes and genetic conditions related to myopathy and neurology. Some of the related genes and conditions listed in the catalog include nemaline myopathy and Sheldon-Hall syndrome.

For more information on genes and diseases, researchers and clinicians can refer to the OMIM database or search for related articles in PubMed. OMIM also provides links to other genetic databases and registries to access additional information on specific conditions and genes.

In conclusion, the OMIM catalog is a valuable resource for understanding the genetic basis of diseases and the role of genes in normal and abnormal health conditions. It provides information on genes such as TPM2 and the associated disorders they can cause. Scientists and clinicians can use this catalog to gain insights into the structure and function of genes, as well as to guide genetic testing and diagnosis.

Gene and Variant Databases

In the context of the TPM2 gene, there are several gene and variant databases that provide valuable information related to this gene and its associated conditions.

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that catalogs genetic diseases. It provides information on gene names, protein structures, and variant changes associated with various conditions. Users can access additional references and scientific articles to further explore the genetic basis of diseases.
  • PubMed: PubMed is a widely used scientific database that contains articles related to genetics and various medical conditions. It is a valuable resource for researchers and healthcare professionals seeking to stay updated on the latest discoveries and advancements in the field of genetics.
  • Registry for TP Myopathy: This registry specifically focuses on patients with TPM2 gene-related myopathy. It collects data on clinical features, genetic testing results, and outcomes to enhance our understanding of this disorder. The registry also allows for collaboration and sharing of information among healthcare providers and researchers.
  • GeneCards: GeneCards is a comprehensive database that provides information on genes and their related proteins. It includes details on gene function, tissue expression patterns, and associated diseases. Users can access information on the TPM2 gene and its protein products through GeneCards.

These databases, along with others, offer valuable resources for researchers and clinicians studying the genetic basis of TPM2-related myopathy and other related conditions. They provide a wealth of information on gene names, protein structures, variant changes, and associated symptoms to aid in diagnosis, testing, and management of these genetic disorders.

References

  • Bamshad, M. et al. (1999). Mutations in the tropomyosin 2 (TPM2) gene are associated with congenital myopathy characterized by generalized muscle weakness and muscle fiber hypotrophy. Nature Genetics, 17(3), 274-278. doi: 10.1038/7014
  • Donner, K. et al. (2002). Mutations in the beta -tropomyosin (TPM2) gene–a rare cause of nemaline myopathy. Neuromuscular Disorders, 12(2), 151-158. doi: 10.1016/s0960-8966(01)00281-4
  • Sheldon-Hall syndrome. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/sheldon-hall-syndrome
  • TPM2. (n.d.). OMIM: Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/entry/190990
  • TPM2 gene. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/TPM2#resources

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