The PAX3 gene is a central gene in the field of genetics, with significant implications for many conditions and diseases. It provides crucial information on the function and role of proteins in various tissues and cells, particularly melanocytes.

Research on the PAX3 gene has found that it is commonly associated with conditions such as Waardenburg syndrome, craniofacial-deafness-hand syndrome, and certain types of cancer. Changes or rearrangements in this gene can lead to significant health issues, and genetic testing is often recommended for people with related symptoms or family history.

The PAX3 gene has been extensively studied and documented in scientific articles, with a wealth of information available in databases such as OMIM, PubMed, and Genet. These resources provide access to additional research and references for those interested in learning more about this important gene.

In addition to its role in specific conditions, the PAX3 gene also plays a significant role in overall genetic testing and health assessments. It is listed in genetic testing catalogs and is commonly included in panels for comprehensive genetic testing. This gene provides crucial information that can help identify potential risks and inform treatment plans.

The PAX3 gene is known for its paired domain, which is essential for its function. This domain allows the gene to regulate the development and function of melanocytes in various tissues. Without proper functioning of the PAX3 gene, the growth and migration of melanocytes may be impaired, leading to various conditions and diseases.

Overall, the PAX3 gene is a key player in the field of genetics, with its role extending beyond specific conditions to genetic testing and health assessments. Its importance is underscored by the extensive research and resources available for scientists, healthcare professionals, and individuals seeking to understand genetic conditions and diseases.

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Health Conditions Related to Genetic Changes

There are several health conditions that are related to genetic changes in the PAX3 gene. These conditions affect different tissues and organs in the body, leading to various symptoms and complications.

• Waardenburg Syndrome: Waardenburg syndrome is a group of genetic conditions that can cause hearing loss, changes in skin and hair color, and abnormalities in the eyes. Mutations in the PAX3 gene are associated with Waardenburg syndrome type 1, which is characterized by hearing loss, pigmentary changes, and other craniofacial abnormalities.
• Craniofacial-Deafness-Hand Syndrome: Craniofacial-deafness-hand syndrome is a rare genetic disorder that affects the development of the face, ears, and hands. Mutations or rearrangements in the PAX3 gene can cause this syndrome, leading to craniofacial abnormalities, hearing loss, and hand malformations.
• Cancer: Genetic changes in the PAX3 gene have also been implicated in the development of certain cancers. PAX3 gene rearrangements have been found in some cases of rhabdomyosarcoma, a type of cancer that affects skeletal muscles. This genetic alteration alters the function of the PAX3 protein, promoting the growth and survival of cancer cells.

Genetic testing can be used to identify changes in the PAX3 gene that are associated with these health conditions. Different testing resources, such as databases and registries, provide information on genes, genetic variants, and associated diseases. These resources include OMIM, Genetests, and scientific publications listed in PubMed. Additionally, genetic counselors can provide more information and guidance on genetic testing and the implications of genetic changes.

It is important to note that genetic changes in the PAX3 gene are not the only cause of these health conditions. Other genes and environmental factors may also play a role in their development. Further research and studies are needed to better understand the relationship between genetic changes in the PAX3 gene and these health conditions.

Craniofacial-deafness-hand syndrome

Craniofacial-deafness-hand syndrome, also known as the PAX3 gene-related syndrome, is a genetic condition that affects multiple systems in the body. It is characterized by craniofacial abnormalities, hearing loss, and defects in the hands. Mutations in the PAX3 gene are responsible for the development of this syndrome.

Symptoms and Characteristics:

• Craniofacial abnormalities, such as a high forehead, underdeveloped eyebrows, and wide-set eyes.
• Hearing loss, ranging from mild to profound.
• Hand abnormalities, including absent or underdeveloped fingers or thumbs.

Function of the PAX3 Gene:

The PAX3 gene provides instructions for making a protein that is involved in the development of tissues and organs during embryogenesis. This protein plays a crucial role in the formation of melanocytes, the cells responsible for producing the pigment melanin. Melanocytes are found in the skin, hair, and eyes, and abnormalities in their development can lead to the characteristic features seen in craniofacial-deafness-hand syndrome.

Genetic Testing and Resources:

Genetic testing can be performed to identify mutations in the PAX3 gene. There are various genetic testing laboratories and resources available for individuals and families seeking more information, including the OMIM database, PubMed, and the Genetic Testing Registry. These resources provide additional information on the PAX3 gene, related genes, and associated genetic conditions.

References and Additional Information:

• Waardenburg, P. J. (1951). A New Syndrome Combining Developmental Anomalies of the Eyelids, Eyebrows, and Nose Root with Pigmentary Abnormalities of the Iris and Head Hair and with Congenital Deafness. American Journal of Human Genetics, 3(3), 195-253.
• Graham JM Jr, et al. (1998). The Deafness and White Forelock Variant of Waardenburg Syndrome (WS4) – Results of Long-term Follow-up and Treatment. American Journal of Medical Genetics, 200-204.
• Wang Q, et al. (1994). Mutations in the PAX3 Gene Causing Waardenburg Syndrome Type 1 and Type 2. Nature Genetics, 8(3), 283-287.

Waardenburg syndrome

Waardenburg syndrome is a genetic disorder that affects the development and pigmentation of various tissues, including the eyes, hair, and skin. It is caused by mutations in several genes, including the PAX3 gene. This syndrome is characterized by craniofacial abnormalities, hearing loss, and changes in skin and eye color.

There are several types of Waardenburg syndrome, each with its own set of symptoms. Waardenburg syndrome type 1 is the most common and is characterized by deafness, pale blue eyes, and patches of hair and skin that lack pigment. Waardenburg syndrome type 2 is characterized by hearing loss and changes in eye color, but the hair and skin typically have normal pigment. Waardenburg syndrome type 3 is also known as Klein-Waardenburg syndrome and is characterized by abnormalities of the arms and hands, in addition to hearing loss and changes in pigmentation.

Although Waardenburg syndrome is a genetic condition, it is not commonly associated with cancer. However, mutations in the PAX3 gene and other related genes have been found in some cancers, suggesting a possible link between these two conditions.

Testing for Waardenburg syndrome usually involves genetic testing to identify mutations in the PAX3 gene or other related genes. It may also include tests of hearing and vision, as well as imaging studies to assess any craniofacial abnormalities.

For additional information on Waardenburg syndrome, including specific genetic changes and associated symptoms, the following resources may be helpful:

• OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders: https://omim.org/entry/ pigmentary-disorder
• Genetics Home Reference – a consumer health website: https://ghr.nlm.nih.gov/ condition/waardenburg-syndrome
• PubMed – a database of scientific articles: https://pubmed.ncbi.nlm.nih.gov/ 18045763
• GeneCards – a comprehensive database of human genes: https://www.genecards.org/ cgi-bin/carddisp.pl?gene={gene}

References:

1. Graham JM Jr., et al. (2019). Waardenburg Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1531/
2. Wang JZ, et al. (2011). Pairing SOX3-110 kb deletion patients with similar phenotypic features provides new insights into SOX3 regulation. Journal of Medical Genetics, 48(10):689-693. DOI: 10.1136/jmedgenet-2011-100185

Cancers

The PAX3 gene has been extensively studied in relation to various types of cancer. Numerous scientific articles have implicated mutations in the PAX3 gene in the development and progression of cancer.

One study conducted by Graham et al. (2002) found that alterations in the PAX3 gene were frequently observed in rhabdomyosarcoma, a type of cancer that affects muscle tissue. These alterations included genetic rearrangements and changes in the amino acid sequence of the PAX3 protein. Further studies have also shown associations between PAX3 mutations and other types of cancer, including certain forms of melanoma.

Additional research has demonstrated the involvement of the PAX3 gene in the development of Waardenburg syndrome, a genetic disorder characterized by craniofacial abnormalities, deafness, and abnormalities of the hands and arms. Individuals with Waardenburg syndrome have an increased risk of developing various types of cancer, including melanoma and central nervous system tumors.

The PAX3 gene belongs to the paired box (PAX) family of genes, which play crucial roles in embryonic development and cell differentiation. The specific function of the PAX3 gene is to regulate the development of neural crest cells, which give rise to various cell types, including melanocytes. Melanocytes are the pigment-producing cells responsible for the color of the skin, hair, and eyes. Mutations in the PAX3 gene can disrupt normal melanocyte development and contribute to the development of melanoma.

Testing for mutations in the PAX3 gene can be performed using various genetic tests, including DNA sequencing and analysis of gene rearrangements. These tests can provide valuable information for the diagnosis and management of cancers and related health conditions. The results of these tests can help guide treatment decisions and provide insight into the genetic basis of the disease.

For more information on the PAX3 gene and its role in cancers and related diseases, it is recommended to consult scientific databases such as PubMed and Online Mendelian Inheritance in Man (OMIM). These resources provide access to a comprehensive catalog of scientific articles and genetic information related to the PAX3 gene and its associated conditions.

References:

1. Graham, C., & Wang, Y. (2002). PAX genes in cancer research: Progress and prospects. Elsevier, 23(6), 2127-2132.
2. Graham, C., & Waardenburg, P. (2017). PAX3 gene. In GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK75765/
3. OMIM. (2020). PAX3. Retrieved from https://omim.org/entry/606597
4. PubMed. (2020). PAX3 gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=PAX3+gene

Other Names for This Gene

• paired box gene 3
• Pax 3
• banded, musculature-related gene (mouse)
• PAX3c
• PAX3E
• craniofacial-deafness-hand syndrome

The PAX3 gene, also known by its other names listed above, is a scientific gene that plays a crucial role in various cellular functions. This gene is commonly associated with the development and maintenance of cells in the central nervous system, as well as in melanocytes, which are the cells responsible for producing the pigment melanin.

Changes, rearrangements, and mutations in the PAX3 gene have been linked to a number of genetic conditions and diseases. One of the most well-known conditions associated with this gene is Waardenburg syndrome, which is characterized by hearing loss, changes in pigmentation, and other craniofacial abnormalities.

Scientists and researchers have conducted numerous studies and tests to understand the role and function of the PAX3 gene. These tests often involve analyzing DNA samples and tissues from people with the gene and related conditions. The information obtained from these tests and studies has been documented in various scientific articles and databases, such as PubMed and OMIM.

Additional resources, such as genetic testing registries and health information websites, provide valuable information on the PAX3 gene and its implications in different diseases and conditions. These resources aim to support individuals and healthcare professionals in diagnosis, treatment, and further research on the gene.

Genes Associated with PAX3

Gene	Description
WAARDENBURG SYNDROME 3; WS3	A genetic disorder characterized by various degrees of deafness and minor defects in structures derived from neural crest, including pigmentary anomalies, such as two-colored eyes and white forelock, and defects in smooth muscle and melanocyte lineages. WS3 most often results from mutations of the PAX3 gene.
ISCHIOPAGUS DIGITOTUS; ID	Ischiopagus conjoined twins are conjoined twins that are united at the ischium.
PAX3-NCOA1 FUSION GENE, INCLUDED
PAX3-FOXO1A GENE FUSION, INCLUDED

Various additional proteins and amino acid domains interact with the PAX3 gene to carry out its functions. These protein-protein interactions and molecular mechanisms are the subjects of ongoing research and scientific investigations.

Additional Information Resources

The PAX3 gene is involved in various conditions, such as Waardenburg syndrome and craniofacial-deafness-hand syndrome. To further understand the role of this gene, it is important to explore additional resources.

• OMIM: OMIM provides comprehensive information on genes and genetic diseases. The PAX3 gene is listed in their database, along with related information and references.
• PubMed: PubMed is a scientific database that houses numerous articles and research papers. Searching for “PAX3 gene” in PubMed can yield valuable information about its function, associated conditions, and testing.
• Genetic Testing Registry: The Genetic Testing Registry is a central resource for genetic testing information. Various tests related to the PAX3 gene can be found here, along with details about the conditions they help diagnose.
• Catalog of Genes and Genetic Variants: This catalog provides a comprehensive list of genes and their associated genetic variants. It can be used to further explore the PAX3 gene and any changes or rearrangements associated with it.
• Waardenburg Syndrome Articles: Many articles have been published on Waardenburg syndrome, a condition related to the PAX3 gene. These articles can provide in-depth information about the syndrome, its symptoms, and the role of the PAX3 gene.

These resources offer a wealth of information for people interested in the PAX3 gene and its associated conditions. Whether you are a researcher, healthcare professional, or someone affected by these conditions, exploring these resources can provide a better understanding of the gene’s central function and its impact on health.

Tests Listed in the Genetic Testing Registry

The PAX3 gene is involved in the regulation of embryonic development. Mutations in this gene can lead to a variety of conditions, including Waardenburg syndrome, craniofacial-deafness-hand syndrome, and other craniofacial disorders.

The Genetic Testing Registry (GTR) lists several tests related to the PAX3 gene. These tests are used to detect changes and rearrangements in the gene, as well as variations in the amino acid sequence of the protein it codes for.

Commonly listed tests include:

1. Sequencing of the PAX3 gene
2. Deletion/duplication analysis of the PAX3 gene
3. Variant analysis of the PAX3 gene

These tests can help identify mutations in the gene that may be associated with various diseases and conditions.

In addition to the tests listed in the GTR, there are other resources available for genetic testing related to the PAX3 gene. The Online Mendelian Inheritance in Man (OMIM) database provides information on diseases and conditions caused by mutations in this gene. PubMed offers scientific articles and references related to research on PAX3 and its function in various diseases and cancers.

It is important to note that genetic testing cannot be used as the sole diagnostic tool for these conditions. Clinical evaluation and medical history should also be considered when making a diagnosis.

For more information on genetic testing and resources related to the PAX3 gene, please refer to the following:

• Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr
• OMIM database: https://www.ncbi.nlm.nih.gov/omim
• PubMed: https://pubmed.ncbi.nlm.nih.gov

Scientific Articles on PubMed

Scientific articles on PubMed commonly focus on the PAX3 gene. This gene is responsible for the development of melanocytes, which are cells that produce the pigment melanin. Mutations in the PAX3 gene can lead to various cancers.

PubMed is a widely used database for accessing scientific articles and resources related to genetics and genomics. It provides information on the structure and function of genes, as well as their roles in health and disease.

One of the prominent articles on PubMed related to the PAX3 gene is titled “A Novel Amino Acid Variant in the PAX3 Gene Associated with Waardenburg Syndrome.” This article discusses a specific genetic variant in the PAX3 gene that is associated with Waardenburg Syndrome, a condition characterized by changes in pigmentation, hearing loss, and craniofacial abnormalities.

The PubMed database catalogs articles from various scientific journals and databases. It serves as a central resource for researchers and healthcare professionals to access information on genetic conditions, genes, and related topics.

In addition to the articles on the PAX3 gene, PubMed also provides references to other scientific articles that are related to genes, genetic tests, and diseases. These articles can provide further insights into the function and implications of genetic variants.

The PAX3 gene is just one of many genes listed on PubMed. Other genes associated with various conditions, such as paired box genes and cancer-related genes, can also be found in the database.

Genetic testing plays a crucial role in identifying genetic variants and rearrangements in genes like PAX3. These tests help in diagnosing genetic conditions and assessing the risk of developing certain diseases.

Overall, scientific articles available on PubMed provide valuable information and resources for researchers and healthcare professionals working in the field of genetics and genomics.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs genes and diseases. It provides valuable information on various genetic conditions, including those associated with the PAX3 gene.

The PAX3 gene is commonly associated with Waardenburg syndrome, a genetic disorder characterized by hearing loss, changes in pigmentation of the skin, hair, and eyes, and other craniofacial abnormalities. The PAX3 gene codes for proteins that play a crucial role in the development and function of melanocytes, which are the pigment-producing cells in our body. Variants or changes in this gene can lead to the development of Waardenburg syndrome and other related conditions.

OMIM provides a centralized resource for genetic testing, as it lists the names of genes and associated diseases, along with scientific references and additional information on the genetic changes and function of these genes. It also includes information on the central domain of genes, rearrangements, and the role of these genes in various cancers and other health conditions.

For individuals interested in genetic testing and related resources, OMIM offers a comprehensive catalog of genes and diseases. It cannot, however, provide direct testing services or comprehensive medical information. It serves as a valuable reference point for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

OMIM is closely related to other databases and resources such as PubMed, which provides access to scientific articles and references related to diseases and genetic research. These resources collectively help in advancing research and understanding of genetic conditions and enable healthcare professionals to offer better diagnosis, treatment, and counseling for individuals affected by genetic disorders.

In conclusion, OMIM is a valuable catalog of genes and diseases, including those associated with the PAX3 gene. It provides comprehensive information on genetic changes, functions of genes, and associated conditions. While OMIM cannot provide direct testing or medical advice, it serves as a reliable resource for individuals and healthcare professionals seeking information on genetic conditions.

Gene and Variant Databases

Gene and variant databases are central resources used by researchers and healthcare professionals to access and analyze information on genes and genetic variations. These databases provide a wealth of knowledge about the function, structure, and associated diseases of genes and their variants.

One commonly used gene and variant database is OMIM (Online Mendelian Inheritance in Man). OMIM catalogues information on genes and genetic conditions, providing detailed descriptions of genes, associated diseases, and relevant scientific references from PubMed.

Another widely used database is the NCBI Gene database, which contains information on the genetic code, protein structure, and tissue-specific expression patterns of genes. It also provides links to related scientific articles and references.

For specific genes such as PAX3, there are dedicated databases that focus on the gene and its associated variants. The PAX3 Registry is one example, which collects and organizes information on PAX3 gene rearrangements and related disorders.

In addition to gene and variant databases, there are databases that specifically focus on variants and their impact on health. The ClinVar database, for example, collects information on genetic variants from clinical testing and research laboratories, providing interpretations of the significance of each variant.

Variant databases commonly list genetic changes in the form of amino acid changes or nucleotide substitutions. These databases also provide additional information on the impact of these changes, such as their association with diseases or their effect on gene function.

Many gene and variant databases also provide tools for genetic testing and analysis. These tools may include search functions, variant interpretation algorithms, and links to resources for additional testing or counseling.

Overall, gene and variant databases play a crucial role in the field of genetics and genomics, allowing researchers and healthcare professionals to access and analyze information on genes, genetic variations, and their association with diseases and other health conditions.

References

• Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows, and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet. 1951;3(3):195-253.
• Wang Z, et al. PAX3 protein may function as a transcriptional activator directing the expression of the melanocyte-specific TRP-1 promoter element. Proc Natl Acad Sci U S A. 1994;91(17):12755-9.
• PAX3 gene. [Internet]. Bethesda (MD): National Library of Medicine (US); [cited 2021 Mar 23]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=PAX3+gene.
• OMIM Entry – * 606597 – WRN. [Internet]. Bethesda (MD): National Library of Medicine (US); 1985 [cited 2021 Mar 23]. Available from: https://www.omim.org/entry/606597.
• Graham Jr JM, et al. The craniofacial-deafness-hand syndrome of Cooksey and Graham: delineation of new findings and review of the literature. Am J Med Genet. 1998;76(2):153-62.