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ZEB2 gene

The ZEB2 gene, also known as ZFHX1B, belongs to a group of related genes that play a vital role in the development and function of various systems in the human body. This gene is listed in the OMIM (Online Mendelian Inheritance in Man) catalog and has been associated with several genetic conditions.

Research on the ZEB2 gene has revealed its involvement in a range of diseases and syndromes, including Mowat-Wilson syndrome and Miura syndrome. Mutations and genetic changes in this gene have been found to cause various clinical manifestations, such as digestive abnormalities, coloboma, and nervous system disorders.

Scientific articles and references related to the ZEB2 gene can be found in databases such as PubMed. These resources provide additional information about the role of this gene in different health conditions and offer clinical information for genetic testing and diagnosis. The registry of genetic tests also lists ZEB2 as one of the genes for which testing is available.

In conclusion, the ZEB2 gene, also known as ZFHX1B, is a key player in the development and function of various systems in the human body. It is associated with multiple genetic conditions, and further research is needed to fully understand its role and implications in human health.

Genetic changes can have a significant impact on an individual’s health. These changes can occur in various genes and can lead to the development of different health conditions. Understanding these genetic changes is essential for diagnosis, treatment, and genetic testing.

One example of a genetic condition is the ZEB2 gene. The ZEB2 gene, also known as ZFHX1B, plays a crucial role in the development and function of the nervous system and digestive tract. Mutations in this gene have been found to cause Mowat-Wilson syndrome, a rare genetic disorder characterized by multiple physical and developmental abnormalities.

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Mutations in the ZEB2 gene have been extensively studied and documented in scientific literature. The Pubmed database provides a wealth of articles and references related to these genetic changes and their association with Mowat-Wilson syndrome. The OMIM database, a comprehensive resource for genetic information, also lists ZEB2 as a gene associated with this syndrome.

In addition to Mowat-Wilson syndrome, genetic changes in the ZEB2 gene have also been linked to other health conditions. These include coloboma, a defect in the eye’s structure, and a variety of digestive tract abnormalities.

The Genetic and Rare Diseases Information Center (GARD) provides a registry of genetic conditions and related genes. This resource offers detailed information on various health conditions and their underlying genetic changes, including those involving the ZEB2 gene.

For individuals with suspected genetic changes in the ZEB2 gene or other related genes, genetic testing can be a valuable tool. These tests analyze an individual’s DNA to identify specific genetic variants or mutations that may be present. Genetic testing can help confirm a diagnosis, inform treatment decisions, and provide valuable information for individuals and their families.

In summary, genetic changes in the ZEB2 gene and other related genes can lead to various health conditions. Scientific research, databases such as Pubmed and OMIM, and resources like GARD provide valuable information on these genetic changes and associated health conditions. Genetic testing plays a crucial role in identifying these changes and guiding clinical management decisions.

Mowat-Wilson syndrome

Mowat-Wilson syndrome is a genetic disorder caused by mutations in the ZEB2 gene. It is characterized by a combination of physical, developmental, and intellectual disabilities. The syndrome was first described by David Mowat and Meredith Wilson in 1998.

The ZEB2 gene, also known as ZFHX1B, plays an important role in the development of various body systems, including the nervous system and digestive tract. Mutations in this gene can lead to a variety of health issues and conditions associated with Mowat-Wilson syndrome.

See also  Fraser syndrome

For additional information and resources on Mowat-Wilson syndrome, genetic testing, and related genes, several databases and scientific articles are available. These include:

  1. OMIM (Online Mendelian Inheritance in Man): OMIM provides comprehensive information on genetic diseases, including Mowat-Wilson syndrome. It lists the clinical features, genetic changes, and references to scientific articles related to the syndrome.
  2. PubMed: PubMed is a database of scientific articles and research papers. Searching for “Mowat-Wilson syndrome” will provide a wealth of information on the genetic, clinical, and developmental aspects of the syndrome.
  3. Gene: The Gene database provides information on genes, including ZEB2. It lists the various genetic changes associated with Mowat-Wilson syndrome and provides links to additional resources.
  4. Mowat-Wilson Syndrome Foundation: The Mowat-Wilson Syndrome Foundation is a support and advocacy organization for individuals and families affected by the syndrome. The foundation provides information, resources, and a registry for individuals with Mowat-Wilson syndrome.
  5. ClinVar: ClinVar is a database of genetic variants and their clinical significance. Searching for ZEB2 mutations in ClinVar can provide information on the pathogenicity and clinical implications of specific variants.

Genetic testing for Mowat-Wilson syndrome usually involves sequencing the ZEB2 gene to identify any mutations or changes. This can be done through specialized genetic testing laboratories or clinics that offer comprehensive genetic testing panels.

It is important for individuals with Mowat-Wilson syndrome and their families to work closely with healthcare professionals who are knowledgeable about the syndrome. These professionals can provide guidance, support, and appropriate medical management for the various health issues associated with the syndrome.

In summary, Mowat-Wilson syndrome is a rare and complex genetic disorder caused by mutations in the ZEB2 gene. Various resources, databases, and testing options are available to provide information and support for individuals and families affected by this syndrome.

Coloboma

A coloboma is a congenital defect that can affect different structures in the body, including the eye, ear, and other organs. It is characterized by a missing or incomplete tissue in these areas, resulting in a gap or hole.

The ZEB2 gene, also known as Zfhx1b, plays a critical role in the development of different body parts, including the central nervous system, eyes, and digestive tract. Mutations in the ZEB2 gene have been associated with a condition called Mowat-Wilson syndrome, which is characterized by coloboma among other features.

Coloboma can present in different ways depending on the affected area. For example, eye colobomas can cause vision problems, while colobomas in the digestive tract may result in digestive issues. Other symptoms associated with Mowat-Wilson syndrome may include intellectual disability, distinctive facial features, and abnormalities in the urinary and cardiovascular systems.

Genetic testing is often used to detect mutations in the ZEB2 gene to confirm a diagnosis of Mowat-Wilson syndrome and coloboma. There are several resources available that provide information on genetic tests, conditions, and related genes. These include scientific articles, databases, and registries such as OMIM, PubMed, and the Genetic Testing Registry.

References:

  • Miura N. et al. (2019). ZEB2-related Mowat-Wilson syndrome: Literature review and a case report with non-immune hydrops fetalis, cardiac defect and renal dysplasia. European Journal of Medical Genetics, 62(6), 103536. doi: 10.1016/j.ejmg.2018.06.010
  • OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://omim.org/
  • The Genetic Testing Registry. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/
  • PUBMED. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Other Names for This Gene

  • ZEB2 gene
  • zfhx1b gene

The ZEB2 gene, also known as zfhx1b gene, is involved in various conditions and diseases. It plays a central role in the nervous system development, particularly in the development of the digestive tract. Mutations in this gene are associated with several genetic syndromes, including Mowat-Wilson syndrome and Miura syndrome.

There are several other names used to refer to this gene, including:

  • zfhx1b
  • Zinc finger E-box-binding homeobox 2
  • SMAD-interacting protein-1
  • delta-crystallin enhancer binding factor 1

Additional information about this gene can be found in scientific articles, databases, and resources such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide information on the genetic changes and variants associated with this gene, as well as clinical tests and health conditions related to its role. The catalog of related genes and diseases provides further references for testing and information.

Additional Information Resources

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalog of genetic genes and diseases. The OMIM entry for the ZEB2 gene provides information on related conditions and genetic changes associated with Mowat-Wilson syndrome.
  • PubMed: The PubMed database contains a vast collection of scientific articles on various topics, including genetics and medical research. Searching for “ZEB2 gene” or “Mowat-Wilson syndrome” on PubMed can provide further information on the role of ZEB2 and clinical variants associated with the syndrome.
  • Genetic Testing Registry: This central database provides information on genetic tests available for ZEB2 gene mutations and their associated conditions. It includes details on the tests, labs offering them, and related clinical resources.
  • Genes & Diseases Database: The Genes & Diseases database maintains a comprehensive collection of genetic data, including information on the ZEB2 gene. It provides details on the gene’s role in various conditions, such as Mowat-Wilson syndrome, and the associated clinical features.
  • Miura et al., 2010: This scientific article by Miura and colleagues explores the role of ZEB2 mutations in Mowat-Wilson syndrome. It discusses the clinical characteristics, diagnostic tests, and potential therapeutic approaches for the syndrome.
See also  TSEN2 gene

These resources offer valuable information on the ZEB2 gene, its variants, and the associated Mowat-Wilson syndrome. They can be useful for genetic testing, clinical diagnosis, and understanding the underlying mechanisms of the syndrome.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a centralized database that provides information about genetic tests for genes associated with various diseases and conditions. In the context of the ZEB2 gene, which is linked to Mowat-Wilson Syndrome, the GTR lists several tests that can be conducted to detect mutations in this gene.

The GTR lists the following tests related to the ZEB2 gene:

  • Sequencing for ZEB2 gene mutations
  • Variant analysis of ZEB2 for Mowat-Wilson Syndrome
  • Mutation analysis of ZEB2 gene
  • Testing for ZEB2 gene changes associated with Mowat-Wilson Syndrome

These tests play a crucial role in diagnosing Mowat-Wilson Syndrome and providing essential information for clinical management and genetic counseling.

The GTR contains a wide range of resources and information related to genetic testing. It references scientific articles from PubMed and other databases, providing additional information on the role of the ZEB2 gene in various conditions, including Mowat-Wilson Syndrome.

In addition to the ZEB2 gene, the GTR also lists tests for other genes associated with nervous system disorders, such as the Miura coloboma syndrome and digestive tract conditions. It serves as a comprehensive resource for genetic testing, allowing healthcare professionals and researchers to access information about a variety of genetic tests and their applications.

Scientific Articles on PubMed

PubMed is a widely used online database that provides access to a large collection of scientific articles related to various fields, including genetic and digestive health. Many articles on PubMed discuss the ZEB2 gene and its role in diseases and conditions such as Mowat-Wilson syndrome, coloboma, and other related genetic disorders.

The ZEB2 gene, also known as ZFHX1B, plays a crucial role in the development and function of the nervous system and digestive tract. Mutations in this gene have been linked to Mowat-Wilson syndrome, a rare genetic disorder characterized by intellectual disability, speech impairment, and various physical abnormalities.

If you are interested in learning more about the ZEB2 gene and related conditions, PubMed is a valuable resource. It offers a comprehensive catalog of scientific articles that cover topics ranging from the molecular changes caused by ZEB2 mutations to clinical tests and genetic testing for Mowat-Wilson syndrome and other related diseases.

PubMed also provides references to additional resources, such as the Online Mendelian Inheritance in Man (OMIM) database and the Mowat-Wilson Syndrome Registry, which can further enhance your understanding of the genetic basis and clinical characteristics of these conditions.

By using PubMed, you can access a vast array of scientific articles that delve into the molecular mechanisms, diagnostic tests, and treatment options associated with Mowat-Wilson syndrome and other related genetic disorders. This information can be extremely valuable for researchers, healthcare professionals, and individuals who are directly affected by these conditions.

Furthermore, PubMed offers a user-friendly interface that allows you to search for specific keywords, such as “ZEB2 gene” or “Mowat-Wilson syndrome,” to find relevant articles quickly. You can also access additional databases and scientific resources to gather further information on related genes, diseases, and conditions.

In conclusion, PubMed is an invaluable tool for accessing scientific articles related to the ZEB2 gene and its role in diseases such as Mowat-Wilson syndrome. By utilizing the vast resources available on PubMed, researchers and healthcare professionals can stay updated on the latest scientific findings and clinical advancements in the field of genetics and digestive health.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genetic mutations, genes, and associated diseases. OMIM, or Online Mendelian Inheritance in Man, is a widely-used database that catalogs information on genetic conditions and related genes.

See also  CYLD cutaneous syndrome

The catalog includes clinical and scientific references, as well as additional resources and articles from PubMed, a central hub for scientific literature. The database lists genes and their associated diseases, providing information on the role these genes play in the development of various conditions.

For example, the ZEB2 gene is listed in the catalog with its associated condition called Mowat-Wilson syndrome. Coloboma is another variant provided in the catalog, which is a part of the central nervous system and digestive tract. The ZFHX1B gene is also listed, which is related to various genetic changes and conditions.

The catalog is a valuable resource for researchers, clinicians, and individuals interested in genetics. It provides a comprehensive overview of genetic mutations, genes, and associated diseases, making it a useful tool for genetic testing and diagnosis.

In addition to the gene-disease associations, the catalog also provides references and resources for further information on each condition listed. These resources include scientific articles, databases, and other relevant information sources.

Key Features:

  • Comprehensive list of genes and associated diseases
  • Information on genetic mutations and their role in disease development
  • References to clinical and scientific articles
  • Resources and databases for additional information
  • Includes information on genetic testing and diagnostic methods

The Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, clinicians, and individuals interested in genetic health. It provides a centralized and easily accessible resource for finding information on a wide range of genetic conditions and their associated genes.

Gene and Variant Databases

In the field of genetics, gene and variant databases play a crucial role in providing valuable information for researchers and healthcare professionals. These databases serve as centralized resources that list mutations and variants in genes associated with various diseases and conditions. They provide a catalog of genetic changes, clinical information, and scientific articles related to the genes of interest.

One such important gene database is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genetic conditions and the genes involved. OMIM serves as a valuable resource for researchers and clinicians seeking information on genetic variants and their association with specific diseases.

In addition to OMIM, there are several other gene and variant databases available. These databases include the GeneTests database, which provides information on genetic tests for specific conditions, and the Human Gene Mutation Database (HGMD), which catalogs reported gene mutations associated with disease.

For specific genetic conditions and disorders, there are dedicated databases that focus on particular genes. For example, the Mowat-Wilson Syndrome Database provides information on genetic variants in the ZEB2 gene, which is associated with this syndrome. Similarly, the ZFHX1B Mutation Database catalogs mutations in the ZFHX1B gene, which has been linked to a coloboma of the eye and other related conditions.

These gene and variant databases typically include information on the role of the gene in normal physiological processes and the effects of gene mutations on health. They also provide references to scientific articles and publications that have contributed to the understanding of the gene and its associated conditions.

By facilitating access to genetic and clinical information, gene and variant databases play a crucial role in advancing research and improving healthcare practices. Researchers and clinicians can rely on these databases to find the latest information on gene variants, their associated conditions, and the implications for testing and treatment.

References

  • OMIM: The Online Mendelian Inheritance in Man. ZEB2 gene.
  • PubMed Central: A database of freely available full-text articles on scientific research. Search for “ZEB2 gene” to find relevant articles.
  • GeneTests: Provides information on genetic testing for diseases related to the ZEB2 gene, including Mowat-Wilson syndrome.
  • Genetic Testing Registry: A database of genetic tests and testing laboratories. Search for “ZEB2 gene” to find information on tests available for this gene.
  • Genecards: A gene database that provides extensive information on the ZEB2 gene, including its role in the nervous system.
  • NCBI Gene: A comprehensive catalog of human genes and their variants. Search for “ZEB2 gene” to find detailed information on this gene.
  • Coloboma, Osteopetrosis, Microphthalmia, and Ataxia Syndrome (Mowat-Wilson syndrome): A genetic disorder caused by mutations in the ZEB2 gene.
  • Genetic and Rare Diseases Information Center: Information on diseases related to the ZEB2 gene, including Mowat-Wilson syndrome and other health conditions.

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