The DUX4 gene is a genetic variant that causes facioscapulohumeral muscular dystrophy (FSHD1), a genetic disorder characterized by the progressive weakness and wasting of muscles in the face, shoulder girdle, and upper arms. The DUX4 gene is abnormally expressed in individuals with FSHD1, leading to changes in the production of certain proteins in muscle cells.

The DUX4 gene is listed in various genetic databases, including the Online Mendelian Inheritance in Man (OMIM) catalog. It is the closest known genetic variant to the DUX4 gene and has been extensively studied in the context of FSHD1. Studies have described the changes that occur in muscle cells when the DUX4 gene is activated and have linked these changes to muscle atrophy and dystrophy.

Additional information on the DUX4 gene and related health conditions can be found in the scientific literature and various genetic resources. The FSHD1 Registry is a database that collects information on individuals with FSHD1 and other related diseases, while PubMed is a valuable resource for finding articles and publications on the DUX4 gene and its effects on muscle health.

Testing for the DUX4 gene variant can be done through genetic testing laboratories, which offer tests to identify the presence of the DUX4 gene and other genetic changes associated with FSHD1. These tests can be useful for diagnosing FSHD1 and informing patients and their families about the genetic basis of the condition.

In conclusion, the DUX4 gene is a key player in the development of facioscapulohumeral muscular dystrophy and its activation leads to significant changes in muscle cells. Understanding the role of the DUX4 gene and its effects on muscle health can potentially lead to the development of targeted therapies for FSHD1.

Genetic changes in the DUX4 gene have been associated with several health conditions, particularly facioscapulohumeral muscular dystrophy (FSHD) and DUX4-like (DUX4L) muscle atrophy. These conditions result from a non-permissive genetic change in the DUX4 gene, leading to the abnormal production of the DUX4 protein.

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FSHD, also known as FSHD1, is a muscular dystrophy characterized by muscle weakness and wasting primarily in the face, shoulder, and upper arm regions. This genetic change involves the repeated expansion of a DNA sequence in the DUX4 gene, causing the expression of the DUX4 protein. Several scientific resources, such as OMIM and PubMed, provide information on FSHD1 and related health conditions.

DUX4L muscle atrophy, on the other hand, is a distinct condition caused by changes in the DUX4-like gene rather than the DUX4 gene. It shares similarities with FSHD but has its own unique characteristics. The DUX4-like gene is located in the same region as the DUX4 gene, but the two genes differ in their functions and expression.

To diagnose these health conditions related to genetic changes in the DUX4 gene, various tests can be conducted. These tests may include genetic testing, muscle biopsies, and other diagnostic procedures. Additionally, there are specific clinical criteria and diagnostic guidelines available for identifying these conditions.

The FSHD International Registry and the Tawil-Facioscapulohumeral Dystrophy (FSHD) Research Fund provide additional resources and support for individuals affected by FSHD and related conditions. Various databases, such as the DUX4-like gene variant catalog and the Genomics England PanelApp, also offer information on genetic changes in the DUX4 gene and related diseases.

It is worth noting that while the DUX4 gene is closely associated with FSHD and DUX4L muscle atrophy, there may be other genetic changes and genes involved in the development of these health conditions. Further research and testing are needed to explore additional genetic factors and their impact on muscular dystrophy and muscle atrophy.

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder characterized by progressive muscle weakness and atrophy. It is named after the regions of the body that are typically affected, including the face (facio-), shoulders (scapulo-), and upper arms (humeral). FSHD occurs when there is a copy number reduction of the DUX4 gene on chromosome 4q35. This reduction leads to changes in the expression of the DUX4 gene and the subsequent production of abnormally large amounts of the DUX4 protein.

See also  SOS1 gene

FSHD is inherited in an autosomal dominant pattern, which means that each affected person has a 50% chance of passing the condition on to their children. While FSHD is usually caused by a reduction in the copy number of the DUX4 gene, other genetic changes in the 4q35 region can also cause the condition. The DUX4-like genes are thought to be the closest related genes to DUX4 and may also be involved in the development of FSHD.

In some cases, FSHD can occur without changes in the DUX4 gene or the 4q35 region. This is known as FSHD type 2 and is thought to be caused by changes in other genes or regions of the genome. There are currently no specific diagnostic tests for FSHD type 2, and the diagnosis is made based on clinical symptoms and a genetic evaluation.

FSHD affects individuals of all ages and can have a wide range of severity. The initial symptoms usually appear in the teenage years or early adulthood and commonly involve weakness and atrophy in the facial muscles and the muscles around the shoulder blades. As the disease progresses, the weakness and atrophy can spread to other muscles, including those in the arms, legs, and trunk. In some cases, FSHD may also affect other body systems, such as the cardiovascular system and the hearing. However, the rate of progression and the specific muscles affected can vary widely from person to person.

There is currently no cure for FSHD, but there are treatments and interventions that can help manage the symptoms and improve quality of life. Physical therapy and exercise programs can help maintain muscle strength and function. Assistive devices, such as braces and wheelchairs, may also be used to improve mobility and independence. In severe cases, surgery may be necessary to correct musculoskeletal abnormalities or to release tight muscles.

In addition to medical treatments, individuals with FSHD can benefit from support and resources provided by patient advocacy groups and disease registries. These organizations offer information and support to individuals and families affected by FSHD, as well as opportunities to participate in research studies and clinical trials. Scientific articles and genetic testing information can also be found on websites like OMIM, PubMed, and the DUX4-Disease Information Resource.


  • DUX4-Disease Information Resource: This website provides comprehensive information about FSHD, including genetics, clinical features, and resources for patients and healthcare professionals. Available at
  • OMIM catalog of human genes and genetic disorders: A comprehensive database that provides information about genes associated with FSHD and other genetic diseases. Available at
  • PubMed: A database of scientific articles that can be searched for additional information about FSHD and related topics. Available at


  1. Klooster, R., et al. (2015). DNA methylation analysis in FSHD patients identifies DUX4-related disease phenotypes. Genome Research, 25(10), 1416-1423. doi: 10.1101/gr.191452.115
  2. Tawil, R., et al. (2019). Facioscapulohumeral muscular dystrophy. In: Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Stephens, K., & Amemiya, A. (Eds.), GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. Available from:

Other Names for This Gene

Here are some other names that are used to refer to the DUX4 gene:

  • FSHD1
  • FSHD region gene 1
  • double homeobox 4
  • double homeobox protein 4
  • DUX4-like antigen 1
  • facioscapulohumeral muscular dystrophy region gene 1
  • facioscapulohumeral muscular dystrophy-associated gene 1
  • double homeobox 4-like antigen 1

These names arise from different aspects of the gene’s characteristics, including its involvement in facioscapulohumeral muscular dystrophy (FSHD). The DUX4 gene has been extensively studied and described in scientific articles and genetic databases, making it a central gene in understanding FSHD and related muscular dystrophy conditions.

The repeated copy of the DUX4 gene, located in the D4Z4 region of chromosome 4, undergoes epigenetic changes and is silenced in most individuals. However, certain changes in the region can lead to the production of abnormally high levels of DUX4 RNA and protein, which may contribute to the development of FSHD. These changes can occur through genetic mutations or other modifications to the regulatory elements controlling the DUX4 gene.

Information about the DUX4 gene, including its alternative names and associated health conditions, can be found in various resources and databases. The Online Mendelian Inheritance in Man (OMIM) database provides additional information, while PubMed lists scientific articles and references related to the DUX4 gene. Genetic testing for the DUX4 gene and its variants is available through specialized laboratories and clinics, which can aid in the diagnosis of FSHD and related conditions.

Additional Information Resources

For additional information on the DUX4 gene and its variants, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man database provides a comprehensive catalog of genetic conditions and diseases. The DUX4 gene and related diseases, such as Facioscapulohumeral Muscular Dystrophy (FSHD1), are described on OMIM.
  • PubMed: PubMed is a database of scientific articles and publications. Searching for “DUX4 gene” or “Facioscapulohumeral Muscular Dystrophy” on PubMed can provide you with more articles and studies related to this gene and its roles in various conditions.
  • Central Registry of FSHD: The Central Registry of FSHD is a centralized resource for individuals affected by Facioscapulohumeral Muscular Dystrophy and provides information on genetic testing, diagnosis, and ongoing research.
  • Muscular Dystrophy Association: The Muscular Dystrophy Association (MDA) provides resources and support for individuals and families affected by muscular dystrophy. Their website contains information on genetic testing, clinical trials, and other resources related to the DUX4 gene and related conditions.
  • DUX4-like genes: DUX4-like genes, such as DUX4c, DUX4c1, and DUX4c2, are closely related to the DUX4 gene. These genes may also play a role in the development of certain genetic conditions and diseases, and further information about them can be found in scientific articles and databases like OMIM and PubMed.
See also  ITM2B gene

It is important to note that while these resources provide valuable information, genetic testing and consultation with healthcare professionals is necessary for a comprehensive understanding of the DUX4 gene and its impact on individual health.

References and additional information can be found in the listed resources from each citation.

Tests Listed in the Genetic Testing Registry

Genetic testing is an important tool in diagnosing and understanding various genetic conditions. The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests available to healthcare professionals and individuals seeking genetic testing.

Among the tests listed in the GTR, there are several related to the DUX4 gene. The DUX4 gene is scientifically described as a non-permissive gene within the D4Z4 repeat region. It is closely related to the facioscapulohumeral muscular dystrophy (FSHD1) gene.

The DUX4 gene has been linked to various muscle-related diseases, including facioscapulohumeral muscular dystrophy (FSHD), which is a genetic disorder characterized by progressive muscle weakness and atrophy.

The tests listed in the GTR for the DUX4 gene include:

  • D4Z4 copy-number changes: This test evaluates the number of D4Z4 repeats in the DUX4 gene. Changes in the copy number of D4Z4 repeats are associated with FSHD.

  • Methylation-sensitive Southern blot: This test assesses the methylation status of the D4Z4 region. Abnormally methylated D4Z4 repeats are also associated with FSHD.

These tests provide valuable information for diagnosing and understanding FSHD and other related conditions. For further information on these tests, healthcare professionals and individuals can refer to the GTR. Additionally, scientific articles, references, and databases such as PubMed, OMIM, and other resources can provide additional resources and information on the DUX4 gene and related diseases.

Scientific Articles on PubMed

PubMed is a valuable resource for accessing scientific articles related to the DUX4 gene, health, and other associated conditions. It provides a comprehensive collection of research publications that describe the variant, abnormally repeated genes, and their impact on health.

Researchers can search PubMed’s extensive databases to find articles on various aspects of the DUX4 gene and its role in conditions such as facioscapulohumeral muscular dystrophy (FSHD). In addition to the DUX4 gene, PubMed also lists articles related to other genes and genetic changes associated with FSHD1.

Here are some key resources available on PubMed:

  • OMIM: OMIM provides detailed information on the DUX4 gene, its associated diseases, and genetic changes. It lists additional references and scientific articles for further exploration.
  • PubMed Central (PMC): PMC is a free full-text archive of biomedical and life sciences journal literature. It offers access to a vast collection of articles related to the DUX4 gene and related conditions.
  • PubMed Registry: PubMed Registry is a catalog of genetic tests and related scientific articles. It provides information on tests available for the DUX4 gene and associated conditions.

In addition to these resources, PubMed provides a citation database that researchers can use to find articles related to the DUX4 gene. By searching PubMed with specific keywords, researchers can find articles on topics ranging from the genetic changes produced by the DUX4 gene to the non-permissive region for its expression.

For those interested in facioscapulohumeral muscular dystrophy (FSHD), PubMed offers a wealth of scientific articles that cover various aspects of the condition. These articles include information on related genes, such as the DUX4-like genes, and the changes they produce in the muscular system.

Overall, PubMed is an invaluable resource for accessing scientific articles on the DUX4 gene and related conditions. Researchers can find information on genetic changes, associated diseases, tests, and more. It is a central hub for scientific literature in the field of muscular dystrophy and offers a vast collection of articles for further exploration.

Catalog of Genes and Diseases from OMIM

The OMIM database provides information on genetic diseases and related genes. It serves as a comprehensive resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various conditions. This catalog offers an overview of genes and diseases related to the non-permissive region of the DUX4 gene.

See also  ALX3 gene

DUX4 Gene and Facioscapulohumeral Muscular Dystrophy (FSHD)

The DUX4 gene is known for its role in facioscapulohumeral muscular dystrophy (FSHD), a genetic disorder characterized by muscle weakness and wasting. Mutations and repeated changes in the DUX4 gene have been linked to the production of abnormally silenced DUX4 genes, leading to the development of FSHD.

Genes and Diseases Related to DUX4

Several genes and diseases have been found to be closely related to the DUX4 gene. These include:

  • DUX4-like genes
  • Central region changes
  • Methyl region changes

Scientific Resources and Databases

OMIM provides scientific articles, references, and citation information for each gene and disease listed. Additional resources and databases for genetic testing and information on related conditions can be found on the OMIM website.

Genetic Testing and Registry

Genetic testing is available for the DUX4 gene and related conditions. The testing can detect changes and variants in the gene, providing valuable information for diagnosis and management. The OMIM database also maintains a registry for individuals affected by these conditions.

Gene and Variant Databases

Gene and variant databases provide a comprehensive collection of information about genes and their variations. These databases are essential resources for researchers, clinicians, and individuals interested in understanding genetic conditions and related diseases.

Facioscapulohumeral Muscular Dystrophy (FSHD)

One of the conditions where gene and variant databases have proven particularly useful is Facioscapulohumeral Muscular Dystrophy (FSHD). FSHD is a genetic disorder characterized by muscle weakness and atrophy, typically in the face, shoulders, and upper arms. It is caused by changes in the DUX4 gene located in the D4Z4 region on chromosome 4.

Gene Databases

Several gene databases provide detailed information on the DUX4 gene and its variations. The Genetic Testing Registry is a comprehensive database that catalogs genetic tests available for FSHD and other related conditions. These tests can detect changes in the DUX4 gene that are associated with FSHD.

Another useful gene database is the OMIM (Online Mendelian Inheritance in Man) database. It contains information on genes and genetic disorders, including FSHD and the DUX4 gene. OMIM provides references to scientific articles, studies, and other resources related to FSHD and the DUX4 gene.

Variant Databases

To understand the specific changes in the DUX4 gene, variant databases play a crucial role. These databases contain information about variant sequences, their frequencies, and associated clinical phenotypes. One such variant database is dbVar, which provides a central repository for structural variations in the human genome, including the D4Z4 region.

DUX4-Like Variant

In addition to the DUX4 gene, variant databases also include information about related genes and their variants. One such example is the DUX4-like variant gene, which shares similarities with DUX4. The differences between these genes and their impact on disease development are the subjects of ongoing research.

Resources and References

For those seeking additional information on gene and variant databases, several resources are available. PubMed provides access to a vast collection of scientific articles and studies related to FSHD, the DUX4 gene, and other genetic conditions. These articles can provide valuable insights into the genetic changes associated with FSHD.

Citation databases like PubMed and Scopus can be used to find articles that reference specific genes or variants. These databases allow researchers to identify the most relevant and up-to-date information on gene changes and related diseases.

Overall, gene and variant databases are essential tools for understanding genetic conditions like FSHD and facilitating research and clinical testing. They provide a wealth of information on genes, variants, and their associated health conditions, helping researchers and clinicians make informed decisions and advancements in the field of genetics.


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