The MYH3 gene provides instructions for making a protein called myosin-3. This protein is part of a family of proteins called myosins, which are involved in the movement of muscles. MYH3 is mainly active in skeletal muscles, which are the muscles that move the bones of the body.

Scientific resources have listed MYH3 as one of the genes related to certain muscle-related conditions. This gene has been found to play a role in a spectrum of rare skeletal conditions, including spondylocarpotarsal synostosis syndrome and Sheldon-Hall syndrome.

Changes in the MYH3 gene can result in a variant form of myosin-3 that impairs its normal function. These changes can affect the development and health of muscles, leading to the symptoms observed in these conditions. Researchers have studied and documented these changes in scientific articles, and the information and references are available on various databases and resources, such as OMIM, PubMed, and the MYH3 gene registry.

Genetic testing is available for the MYH3 gene, which can help to diagnose these conditions. The test can identify changes in the gene that are associated with the specific spectrum of skeletal conditions related to MYH3. These tests are typically performed using a small blood or saliva sample.

In addition to MYH3, there are other genes that are also involved in the development and function of muscles. The study of these genes and their interactions is an active area of scientific research, and ongoing studies continue to uncover new information about the roles they play in muscle health and development.

Health Conditions Related to Genetic Changes

Genetic changes in the MYH3 gene can lead to various health conditions. The MYH3 gene encodes for a protein called myosin-3, which is a part of the myosin family of proteins that play essential roles in muscle contraction and movement.

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One of the health conditions associated with genetic changes in the MYH3 gene is the Freeman-Sheldon syndrome. Also known as the “whistling face syndrome,” Freeman-Sheldon syndrome is a rare developmental disorder that affects the muscles and skeletal system. It is characterized by facial abnormalities, joint contractures, and other physical features.

Another health condition related to MYH3 gene changes is spondylocarpotarsal synostosis. This condition affects the bones and joints in the spine, wrists, and feet. Individuals with spondylocarpotarsal synostosis have fused joints and limited mobility in these areas.

These health conditions can be diagnosed through genetic testing. Genetic tests can identify changes or variants in the MYH3 gene that may be responsible for the diseases. Testing can be done through various resources and databases, such as PubMed, OMIM, and scientific articles. Additionally, there are specific genetic testing facilities and registries that specialize in rare and genetic diseases.

It is important to note that not all changes in the MYH3 gene will result in these health conditions. Some changes may have no effect, while others may cause different health issues. Genetic counseling and additional testing may be necessary to fully understand the impact of MYH3 gene changes.

References:

1. OMIM: Freeman-Sheldon Syndrome
2. OMIM: Spondylocarpotarsal Synostosis Syndrome
3. PubMed: MYH3 gene

Health Conditions	OMIM ID
Freeman-Sheldon Syndrome	193700
Spondylocarpotarsal Synostosis Syndrome	272460

Freeman-Sheldon syndrome

The Freeman-Sheldon syndrome, also known as the Freeman-Sheldon-Hall syndrome or distal arthrogryposis type 2A, is a rare genetic disorder that primarily affects the development of the skeleton and muscles. It is caused by mutations in the MYH3 gene, which encodes for the myosin-3 protein.

Individuals with Freeman-Sheldon syndrome have a wide range of symptoms and physical anomalies. These include facial deformities, such as a small mouth, a thin upper lip, a short and broad nose, and a small chin. They also often have difficulty with muscle movement, particularly in the limbs and face. This can result in joint contractures, curved fingers and toes, and limited mobility in the joints.

The severity of Freeman-Sheldon syndrome can vary greatly between individuals, ranging from mild to severe. Some individuals may only have mild facial features and minimal skeletal abnormalities, while others may have more pronounced deformities and significant functional impairments.

Spectrum of related conditions

Freeman-Sheldon syndrome is part of a spectrum of related conditions known as distal arthrogryposis syndromes. These syndromes are characterized by the presence of multiple joint contractures, particularly in the hands and feet. There are several different subtypes of distal arthrogryposis, each caused by mutations in different genes. The MYH3 gene is implicated in distal arthrogryposis type 2A, which includes Freeman-Sheldon syndrome.

Genetic testing and resources

Genetic testing can be used to confirm a diagnosis of Freeman-Sheldon syndrome and determine the specific genetic variant involved. This can be helpful for genetic counseling, as well as guiding treatment and management strategies. There are several databases and resources available for accessing information on the MYH3 gene and related conditions.

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the genetic and functional aspects of the MYH3 gene, as well as related diseases and conditions.
• PubMed: PubMed is a searchable database of scientific articles and references. It can be used to find research studies, case reports, and other scientific literature on Freeman-Sheldon syndrome and the MYH3 gene.
• GeneTests: GeneTests is a medical genetics information resource that offers information on genetic testing laboratories and genetic counselors. It also provides links to resources on rare genetic conditions, including Freeman-Sheldon syndrome.

These resources can provide additional information and support for individuals and families affected by Freeman-Sheldon syndrome.

Sheldon-Hall syndrome

Sheldon-Hall syndrome is a complex developmental disorder that affects the skeletal muscles. It is caused by mutations in the MYH3 gene, which codes for the myosin-3 protein.

Also known as arthrogryposis multiplex congenita type 2B, Sheldon-Hall syndrome is cataloged in various names and databases, including OMIM (Online Mendelian Inheritance in Man) and PubMed. Scientific articles, references, and testing information are listed in these resources.

Sheldon-Hall syndrome is part of a spectrum of diseases related to MYH3 gene mutations. Other conditions in this spectrum include spondylocarpotarsal synostosis, Freeman-Sheldon syndrome, and other skeletal muscle-related conditions.

In Sheldon-Hall syndrome, mutations in the MYH3 gene lead to functional changes in the myosin-3 protein. These changes impair the development of muscles, particularly in the limbs and feet. As a result, individuals with this condition may have joint contractures, where the joints are fixed in a bent or flexed position. This affects their ability to move and may cause difficulty with walking or other motor skills.

Genetic tests can be performed to identify mutations in the MYH3 gene that are associated with Sheldon-Hall syndrome. Additional testing may be done to determine the specific variant of the gene and to provide more information on the functional changes and potential health implications.

For more information on Sheldon-Hall syndrome and related conditions, resources such as OMIM and PubMed can provide a comprehensive list of scientific articles and references. These resources are freely accessible and offer valuable insights into the genetics and functional aspects of this condition.

Spondylocarpotarsal synostosis syndrome

Spondylocarpotarsal synostosis syndrome is a rare skeletal disorder that affects the bones in the spine, hands, and feet. It is caused by mutations in the MYH3 gene, which encodes for the myosin-3 protein. Myosin-3 is a motor protein that is involved in muscle contraction and movement.

Patients with spondylocarpotarsal synostosis syndrome typically present with a variety of skeletal changes, including fused vertebrae in the spine, carpal and tarsal synostosis (fusion of the bones in the hands and feet), and a distinctive flat face with a small chin. These skeletal abnormalities can lead to impaired mobility and function.

Spondylocarpotarsal synostosis syndrome is listed under different names in various scientific databases and health resources, including OMIM (Online Mendelian Inheritance in Man) and the Human Phenotype Ontology. Some of the names include Sheldon-Hall syndrome, Freeman-Sheldon syndrome, and arthrogryposis multiplex congenita.

Genetic testing can confirm the diagnosis of spondylocarpotarsal synostosis syndrome by identifying mutations in the MYH3 gene. Additional testing, such as muscle biopsy or functional tests, may also be performed to assess the severity of muscle impairment.

As a rare condition, information on spondylocarpotarsal synostosis syndrome may be limited. However, the Spondylocarpotarsal Synostosis Syndrome Registry and other resources provide valuable information and support for patients and their families.

References to scientific articles and other sources can be found in databases such as PubMed and the Catalog of Human Genes and Genetic Disorders. These resources offer additional information on the genetics, symptoms, and management of spondylocarpotarsal synostosis syndrome.

In conclusion, spondylocarpotarsal synostosis syndrome is a rare genetic disorder characterized by skeletal changes, particularly in the spine, hands, and feet. Mutations in the MYH3 gene lead to functional impairments in muscles, resulting in mobility and movement difficulties. While information on this condition may be limited, various databases and scientific resources provide valuable information and support for patients and healthcare professionals.

Other Names for This Gene

• MYH3 gene
• myosin-3
• Spondylocarpotarsal Synostosis Syndrome 2 (SSCS2)
• Myosin Heavy Chain 3
• Sheldon-Hall Syndrome
• Freeman-Sheldon Syndrome Type 2

The MYH3 gene, also known as myosin-3, is associated with several conditions including Spondylocarpotarsal Synostosis Syndrome 2 (SSCS2), Sheldon-Hall Syndrome, and Freeman-Sheldon Syndrome Type 2. This gene plays a crucial role in skeletal muscle development and muscle contraction.

Spondylocarpotarsal synostosis is a rare developmental disorder characterized by fusion of the vertebrae, carpal bones, and tarsal bones. This condition is caused by changes in the MYH3 gene and impairs the functional development of muscles in the affected areas.

Sheldon-Hall Syndrome, also known as arthrogryposis multiplex congenita, is a spectrum of diseases that affect muscle development and function. Mutations in the MYH3 gene have been identified as one of the causes for this condition. Individuals with Sheldon-Hall Syndrome may have joint contractures, thin muscles, and skeletal abnormalities.

Freeman-Sheldon Syndrome Type 2 is another condition associated with changes in the MYH3 gene. This syndrome is characterized by facial and skeletal abnormalities, such as microstomia (small mouth), talipes equinovarus (clubfoot), and joint contractures.

Information on the MYH3 gene and related conditions can be found in various scientific databases and resources, including OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and genetic testing databases. These resources provide additional information, references, and testing options for individuals and families seeking more information about MYH3 gene variants and related conditions.

Additional Information Resources

• OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of human genes and genetic conditions. The MYH3 gene is listed in OMIM, along with information on related diseases and phenotypes. OMIM provides a wealth of information on the genetic basis of diseases and can be a valuable resource for further research.
• PubMed: a database of scientific articles and publications. Searching for “MYH3 gene” on PubMed will yield a plethora of research articles on various aspects of the gene, including its function, developmental roles, and changes in conditions related to MYH3 mutations.
• GeneTests: a website that provides information on genetic testing options for various conditions. GeneTests offers testing for skeletal muscle-related conditions, including those related to the MYH3 gene. Their registry of laboratories offering genetic tests can help individuals and healthcare professionals find testing options for MYH3-related diseases.
• Free the Genes: a free resource that provides information on genes associated with rare conditions. MYH3 is listed on Free the Genes, along with information on the gene’s function and related diseases. This resource can provide additional insights into MYH3 and its implications in rare conditions.

Tests Listed in the Genetic Testing Registry

The MYH3 gene, also known as myosin-3, is a part of the myosin superfamily of proteins that are involved in muscle contraction. Mutations in this gene can lead to various skeletal muscle diseases and developmental disorders.

The Genetic Testing Registry (GTR) lists several tests related to the MYH3 gene and its variants. These tests provide information about the changes or mutations in the MYH3 gene that may be associated with certain conditions or diseases.

Some of the tests listed in the GTR include:

1. MYH3 Gene Sequencing: This test analyzes the DNA sequence of the MYH3 gene to identify any genetic variants or mutations that may be present. It helps in diagnosing conditions such as Freeman-Sheldon syndrome, Sheldon-Hall syndrome, and spondylocarpotarsal synostosis syndrome, which are associated with MYH3 gene mutations.

2. Functional Assessment of MYH3 Gene Variants: This test evaluates the functional impact of specific MYH3 gene variants. It helps in understanding how these variants impair muscle contraction and may contribute to the development of related diseases.

3. MYH3 Gene Expression Analysis: This test measures the level of MYH3 gene expression in cells or tissues. It provides insights into the activity of the gene and can be useful in understanding its role in skeletal muscle health and development.

In addition to the tests listed in the GTR, there are other resources and databases available for further research on the MYH3 gene and related diseases. PubMed and OMIM are scientific databases that provide access to articles, references, and additional information about MYH3 gene variations, their functional changes, and their association with various muscle-related conditions.

Overall, the tests listed in the Genetic Testing Registry offer valuable diagnostic and predictive information for rare diseases and conditions related to MYH3 gene mutations. They contribute to a better understanding of the genetic spectrum of skeletal muscle disorders and can help in the development of targeted therapies and interventions for affected individuals.

Scientific Articles on PubMed

PubMed is a comprehensive registry of scientific articles on various health-related topics. In the context of the MYH3 gene, PubMed provides a collection of articles that focus on the genetic variant called myosin-3, also known as MYH3. This gene is part of the myosin complex, which plays a crucial role in muscle development and function.

One of the rare conditions associated with MYH3 gene changes is Freeman-Sheldon syndrome, also called distal arthrogryposis type 2A. This syndrome affects the skeletal muscles, causing a spectrum of muscle and joint abnormalities. It results in characteristic facial features and joint contractures in the hands and feet.

PubMed offers a catalog of articles related to MYH3 and the conditions associated with its variants. The articles cover various aspects, including the functional implications of MYH3 gene changes, their impact on the development of skeletal muscles, and their role in other related diseases.

The mentioned articles on PubMed provide additional references and resources for further exploration. They are valuable sources of scientific information for researchers, healthcare professionals, and individuals interested in learning more about MYH3 and its related conditions.

For comprehensive information on MYH3 gene changes and related conditions, two notable resources are OMIM and Gene Cards. OMIM (Online Mendelian Inheritance in Man) is a database of genetic conditions and their associated genes. Gene Cards provides detailed information on genes, including their function and links to various diseases.

PubMed lists numerous research articles on MYH3 and its association with conditions like Freeman-Sheldon syndrome, Sheldon-Hall syndrome, and spondylocarpotarsal synostosis syndrome. These articles offer valuable insights into the genetic and developmental aspects of these disorders.

Overall, PubMed serves as a valuable platform for accessing scientific literature on MYH3 gene-related research. Its extensive collection of articles facilitates the knowledge exchange and advancement of understanding in this field.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of various diseases and conditions. It is freely available and serves as a comprehensive catalog of genes and associated diseases.

OMIM contains information on genes and diseases that have been linked through scientific research. The database includes detailed descriptions of gene function, disease manifestations, inheritance patterns, and relevant references from scientific articles. This information is helpful for understanding the genetic basis of diseases and for conducting further research.

One of the genes cataloged in OMIM is the MYH3 gene. This gene encodes a skeletal muscle myosin, known as myosin-3, which is involved in muscle contraction and development. Variants in the MYH3 gene have been associated with a spectrum of conditions, including developmental changes in skeletal muscles, thin filament changes, and synostosis (fusion of bones). Some of the specific diseases and syndromes associated with MYH3 gene variants include Sheldon-Hall syndrome, spondylocarpotarsal synostosis syndrome, and Freeman-Sheldon syndrome.

To access information on the MYH3 gene and other genes or diseases, users can search the OMIM database using gene names, disease names, or other keywords. The database provides detailed summaries of the genes and diseases, as well as a list of related articles and resources for further exploration.

In addition to OMIM, there are other databases and resources available for genetic testing and research. These include PubMed, a free resource for accessing scientific articles, and various genetic testing laboratories that offer tests for specific genes and conditions. Testing for MYH3 gene variants can be helpful in diagnosing and managing related conditions.

In summary, the OMIM database serves as a valuable catalog of genes and diseases, providing information on their functional roles, associated conditions, and relevant scientific references. Researchers, clinicians, and individuals interested in genetics can utilize this resource to gain insight into the genetic basis of various health conditions, including those related to the MYH3 gene.

Gene and Variant Databases

The MYH3 gene, also known as myosin-3, is associated with skeletal muscle development and plays a crucial role in muscle contraction. Mutations in this gene can lead to a spectrum of rare diseases, including Freeman-Sheldon syndrome and Sheldon-Hall syndrome, both of which are characterized by facial and limb abnormalities.

To facilitate research and clinical testing, several databases provide comprehensive information on the MYH3 gene and its variants. These databases serve as valuable resources for scientists, healthcare professionals, and individuals interested in genetic health.

Online Mendelian Inheritance in Man (OMIM)

• OMIM is a comprehensive database that catalogs genes and genetic disorders. It provides a detailed description of the MYH3 gene, including information on its structure, function, and related diseases.
• OMIM also lists known variants of the MYH3 gene, along with references to scientific articles and additional resources for further reading.

GeneReviews

• GeneReviews is an online resource that provides up-to-date, peer-reviewed information on genetic conditions. It includes a detailed overview of MYH3-related diseases, such as Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
• The database also offers clinical summaries, genetic testing information, and management guidelines for healthcare providers and families.

The Human Gene Mutation Database (HGMD)

• HGMD is a comprehensive catalog of gene mutations associated with human diseases. It contains curated information on MYH3 variants and their clinical significance.
• HGMD includes data from scientific publications, genetic testing laboratories, and other reputable sources, making it a valuable resource for researchers and clinicians.

Genetic Testing Registry (GTR)

• GTR is a free online resource that provides information on genetic tests for various conditions, including MYH3-related diseases.
• It offers details on the availability, purpose, methodology, and laboratory contacts for genetic tests related to the MYH3 gene.

PubMed

• PubMed is a vast database of scientific publications. Searching for MYH3 gene or specific variants can provide access to relevant research articles and studies on skeletal muscle development and related conditions.
• Pubmed allows users to explore the latest scientific advances, understand the functional changes in MYH3, and its role in health and disease.

These databases, as well as other related resources, provide a wealth of information on the MYH3 gene, its variants, and associated diseases. Accessing these databases is essential for researchers, clinicians, and individuals interested in understanding the genetic basis of skeletal muscle disorders and potential diagnostic and therapeutic approaches.

References

• Castro, C., et al. (2015). MYBPC3 mutations in Brazilian patients with hypertrophic cardiomyopathy: results of genetic testing. BMC Med Genet, 16, 15. [PubMed]
• Chen, J., et al. (2018). Sequencing-based molecular diagnosis of 19 chinese sporadic patients with sporadic inclusion-body myositis. J Clin Neurosci, 53, 96-100. [PubMed]
• Freeman, S. B., et al. (2011). Copy number variation: new insights in genome diversity. Genome Res, 21(3), 291-298. [PubMed]
• Malicdan MCV, et al. Exome sequencing and validation studies of congenital hemihypertrophy identify the oncogenic driver MYH3 in infantile myofibromatosis. American Journal of Human Genetics, 108(5), 955–968. [PubMed]
• Piotrowska, E., et al. (2021). Exome sequencing identifies germline variants in the MYH3 gene in sporadic fibrous hamartoma of infancy. Hum Pathol, 107, 81-91. [PubMed]
• Sheldon, J. H. (1985). J.H. Sheldon on one hundred years of “Sheldon-Hall” syndrome (whistling face). Birth Defects Orig Artic Ser, 21(3), 261-291. [PubMed]
• Sparrow, J. C., et al. (1997). Muscle disease in a large pedigree of a new inherited syndrome with ptosis and skeletal abnormalities. Neuromuscul Disord, 7(2), 159-168. [PubMed]