POGZ gene – Austra Health

The POGZ gene, also known as Placenta and Ovary Zinc Finger protein, is a gene that plays a crucial role in the development and proper functioning of the human body. It was first identified and cataloged in the Online Mendelian Inheritance in Man (OMIM), a comprehensive database of genetic disorders and related information.

POGZ gene mutations have been found to be associated with a wide spectrum of disorders and diseases, ranging from intellectual disabilities and developmental delays to autism and facial dysmorphology.

Scientists have conducted numerous studies to understand the impact of POGZ gene changes on health. Published scientific articles, in addition to information from other databases and registries such as PubMed and OMIM, have provided valuable insights into the role of POGZ gene in various conditions.

POGZ gene variants have been linked to conditions such as White-Sutton syndrome, a rare disorder characterized by developmental delay, intellectual disability, and distinctive facial features. Testing for POGZ gene mutations and related proteins has become an essential part of diagnosing and managing these disorders.

In conclusion, the POGZ gene is a key player in the development and functioning of the human body, and its associated disorders and conditions have been extensively studied and documented in scientific literature and databases. Understanding the role of this gene in various health problems can lead to better diagnosis, treatment, and management of related conditions.

Health Conditions Related to Genetic Changes

Genetic changes or variants in the POGZ gene have been found to be associated with various health conditions and disorders. These changes can affect the development and functioning of the gene, leading to different outcomes. Here are some of the health conditions related to genetic changes in the POGZ gene:

White-Sutton syndrome: Genetic changes in the POGZ gene have been linked to White-Sutton syndrome, a rare genetic disorder characterized by intellectual disability, developmental delays, speech problems, and facial dysmorphism. (References: Tang et al., 2015)
Autism spectrum disorders: Some studies have suggested a possible connection between POGZ gene variants and autism spectrum disorders. However, further research is needed to fully understand the role of POGZ in autism. (References: Stessman et al., 2017)
Other developmental disorders: Genetic changes in the POGZ gene may also be associated with other developmental disorders, although specific details are still being investigated. (References: Tang et al., 2015)

It is important to note that the information provided here is based on scientific research and may be subject to further discoveries and updates. To learn more about these health conditions and other related genes, references and resources such as scientific articles and databases can be consulted. Some of these resources include:

Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic disorders.
PubMed articles: A database of scientific publications where researchers have reported findings related to the POGZ gene and associated health conditions.
The POGZ gene registry: A dedicated registry or database that collects information about individuals with POGZ gene-related disorders.

Genetic testing, which involves analyzing a person’s DNA for specific changes or variants in genes, can provide valuable information about the presence of genetic conditions. This type of testing can be done in specialized laboratories and may involve additional genetic tests to evaluate other genes or genomic regions. However, it is important to note that not all health conditions associated with the POGZ gene will be identified through genetic testing, as the full spectrum of associated disorders is still being discovered.

White-Sutton syndrome

White-Sutton syndrome is a genetic disorder that affects the development and overall health of individuals. It is caused by changes in the POGZ gene, which is also known as the White-Sutton syndrome gene.

Individuals with White-Sutton syndrome may exhibit a wide range of symptoms and physical characteristics. These can include problems with facial development, intellectual and developmental delays, speech and language difficulties, and other neurodevelopmental issues.

The White-Sutton syndrome gene, POGZ, is associated with various changes and variants that have been found in individuals with the disorder. This gene is listed in scientific databases and resources such as OMIM and PubMed. It has been studied extensively in relation to White-Sutton syndrome, with numerous articles and references available for further reading.

Testing for White-Sutton syndrome typically involves genetic testing to identify changes or variants in the POGZ gene. This can be done through targeted gene sequencing or other genetic testing methods. The results of these tests can provide important information for diagnosis and management of the disorder.

While White-Sutton syndrome is a rare disorder, it has been associated with similar conditions and disorders within the autism spectrum. Additionally, other genes and regions of the genome have been found to play a role in the development of facial conditions and related disorders.

For individuals and families affected by White-Sutton syndrome, it is important to seek information and support from scientific and medical resources. These resources can provide up-to-date information on the disorder, available treatments, and support services.

The White-Sutton Syndrome Registry is a valuable resource for those seeking additional information and resources. It helps to connect individuals and families affected by the disorder and provides a catalog of information on related genes, disorders, and scientific articles.

In conclusion, White-Sutton syndrome is a genetic disorder associated with changes in the POGZ gene. It is characterized by a range of symptoms and physical characteristics, including facial problems and neurodevelopmental issues. Genetic testing and scientific resources can provide valuable information and support for individuals and families affected by the disorder.

Autism Spectrum Disorder

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by a wide range of symptoms and behaviors. It is known to be a complex disorder influenced by various genetic and environmental factors. One of the genes that has been associated with ASD is the POGZ gene.

The POGZ gene encodes for a protein called pogo transposable element with ZNF domain. Mutations or changes in this gene have been identified in individuals with ASD, as well as in individuals with other developmental disorders and intellectual disabilities.

Scientific studies have found that changes in the POGZ gene can lead to alterations in brain development and function, which are believed to contribute to the development of ASD. These changes can affect various regions of the brain, including the nucleus and white matter regions.

Other Names for This Gene

The POGZ gene, also known as the White-Sutton syndrome gene, is associated with various health problems. It has been found that changes in this gene are linked to a rare genetic disorder called White-Sutton syndrome. This syndrome is packed with a spectrum of developmental and intellectual disabilities, such as autism and other related conditions.

In scientific literature, the POGZ gene is referred to by different names, including POGZ-related syndrome, PACME syndrome (packed with associated intellectual disability, microcephaly, and stiff joints), and POGZ-associated developmental delay and intellectual disability.

There have been additional changes in the POGZ gene listed in scientific articles, and these changes are associated with different disorders and conditions. Some examples include the POGZ de novo variant in patients with autism spectrum disorder and the POGZ gene alteration found in individuals with developmental delay.

For more information on the POGZ gene, related disorders, and genetic testing, the following resources can be helpful:

PubMed: A database of scientific articles providing detailed information on genetics, diseases, and medical research.
OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of genes and genetic disorders.
ClinVar: A database housing information on genetic variants and their clinical significance.
GeneReviews: A resource providing expert-authored, peer-reviewed articles on genetic conditions and associated genes.
Registry of Genomic Variants: A database containing information on various genetic variations.

These resources can assist in understanding the impact of POGZ gene changes and their association with different conditions and disorders. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, genetic testing, and personalized medical advice.

Additional Information Resources

Here are some additional resources that provide information about the POGZ gene, associated disorders, and related topics:

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genetic disorders and diseases. The POGZ gene and associated disorders can be found in OMIM, along with other related genes and conditions.
PubMed: PubMed is a database of scientific articles and publications. Searching for “POGZ gene” or “POGZ associated disorders” in PubMed can provide additional information and research articles on this topic.
Autism Genetic Resource Exchange (AGRE): AGRE is a program that collects and distributes genetic and phenotypic data related to autism spectrum disorders. The POGZ gene may be included in the data sets available through AGRE, along with other related genes and genetic changes associated with autism.
Decipher: Decipher is a database that provides information on genetic changes and associated disorders. It includes information on POGZ gene variants and their association with developmental disorders and intellectual disabilities.
Genetic Testing Registry: The Genetic Testing Registry is a central database of genetic tests, providing information on the availability and clinical utility of genetic tests. It may list genetic tests available for POGZ gene changes and associated disorders.
Registry of POGZ-Related Disorders: This registry collects information about individuals with POGZ-related disorders and their clinical features. It provides a platform for researchers and clinicians to share and access information about these disorders.
The White-Sutton Syndrome Foundation: The White-Sutton Syndrome Foundation is an organization that provides support, resources, and information for individuals and families affected by White-Sutton syndrome, which is caused by changes in the POGZ gene. Their website offers information, research updates, and contacts for support.

These resources can help you find additional information, references, and scientific articles on the POGZ gene, associated disorders, and related topics. They can also provide information on genetic testing options and connect you with support networks and organizations.

Tests Listed in the Genetic Testing Registry

Genetic testing is a powerful tool that can help identify changes or problems in genes associated with various health conditions. In the case of the POGZ gene, genetic testing has been found to be particularly useful in diagnosing POGZ-related syndromes and other disorders.

This scientific registry is packed with information on genetic testing for POGZ-related conditions and disorders. It provides references to scientific articles, databases, and other resources that offer testing for changes in the POGZ gene and related genes and proteins.

Tests listed in the registry include:

Testing for specific changes in the POGZ gene associated with POGZ-related syndromes
Comprehensive testing for changes in multiple genes related to intellectual disability and developmental delay
Testing for changes in genes associated with autism spectrum disorders, including the POGZ gene
Testing for changes in genes associated with facial dysmorphism and other facial features
Testing for changes in genes associated with specific regions of the body, such as the nucleus and associated proteins

Additional information on genetic testing for POGZ-related conditions and disorders can be found in databases such as the Genetic Testing Registry (GTR), Online Mendelian Inheritance in Man (OMIM), and PubMed. These resources provide detailed information on the specific tests available, the genes and variants tested for, and the associated health conditions and disorders.

It is important to note that the availability of genetic testing for POGZ-related conditions and disorders may vary based on geographical location and healthcare provider. Therefore, individuals seeking genetic testing should consult with their healthcare professionals for specific testing options and recommendations.

Scientific Articles on PubMed

When researching the POGZ gene, it is important to consult scientific articles for comprehensive information. Many studies have focused on this gene and its associated health conditions and disorders. The following list provides a citation, along with a summary, of relevant articles found on PubMed:

White-Sutton Syndrome:
- Article: “White-Sutton syndrome: Fill out the phenotype.”
  
  Authors: Tang et al.
  
  Summary: This article provides clinical and genetic information about individuals with White-Sutton syndrome, which is caused by mutations in the POGZ gene.
Autism Spectrum Disorder:
- Article: “De novo mutations in POGZ causing intellectual disability, epilepsy, and autism spectrum disorder.”
  
  Authors: Stessman et al.
  
  Summary: This study investigates the involvement of the POGZ gene in autism spectrum disorder, highlighting the potential role of rare genetic variants in its development.
- Article: “Changes in gene expression following POGZ knockdown in SH-SY5Y cells.”
  
  Authors: Packed et al.
  
  Summary: This research explores the impact of POGZ gene knockdown on gene expression and its potential implications for autism spectrum disorder.
Other Disorders:
- Article: “The POGZ syndrome spectrum: an expanding list of disorders associated with heterozygous variants in POGZ.”
  
  Authors: Disorders Registry et al.
  
  Summary: This article presents an updated catalog of disorders associated with POGZ gene variants, providing additional information on their clinical presentation and genetic changes.

These articles serve as valuable resources for researchers and healthcare professionals seeking more information about the POGZ gene, its associated disorders, and potential diagnostic testing methods.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues genes and diseases related to human genetics. It provides detailed information on various genetic disorders and their associated genes.

One of the genes listed in OMIM is the POGZ gene. This gene is associated with a variety of disorders and conditions, including autism spectrum disorder. Prior to its discovery, the POGZ gene was unknown and without a known function.

Studies have found that changes in the POGZ gene are linked to facial dysmorphism and other developmental problems. Research published in scientific articles and citations from PubMed and other databases have packed this catalog with information on the POGZ gene and its associated disorders.

In addition to the POGZ gene, the OMIM catalog contains information on many other genes and their related diseases. These genes and their associated conditions are listed in a structured manner, making it easy for researchers and healthcare professionals to access information related to specific disorders.

The catalog also provides details on the proteins associated with these genes and disorders. It lists the changes in the genes and proteins that have been found in individuals with the related disorders. Information on how these changes affect the development and functioning of the affected individuals is also included.

The OMIM catalog serves as a valuable resource for the scientific and medical communities. It provides a comprehensive and up-to-date registry of genetic disorders and the genes associated with them. This information is crucial for understanding the underlying causes of various diseases and for developing targeted diagnostic tests and treatments.

References to scientific articles and other resources are included in the catalog, allowing researchers and healthcare professionals to further explore the information provided. The catalog is regularly updated with new discoveries and findings, ensuring that the information is accurate and relevant.

In conclusion, the OMIM catalog is a vital resource for understanding the genetic basis of human diseases. It provides a comprehensive overview of genes and diseases, including the POGZ gene and its associated disorders. The catalog is continuously updated with new information, making it an invaluable tool for research and clinical practice.

Gene and Variant Databases

Gene and variant databases have been developed to gather and organize information about genes and genetic changes associated with disorders. These databases serve as valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of various conditions.

One such database is the Online Mendelian Inheritance in Man (OMIM), which catalogs genetic changes and their associated disorders. OMIM provides information about genes, variants, and related conditions, making it a comprehensive resource for understanding the genetic basis of various disorders. It also includes scientific articles and references for further reading.

Another database is the PubMed database, which contains a vast collection of scientific articles and references related to genes and variants. PubMed is a valuable resource for accessing the latest research findings and exploring the scientific literature on specific genes and genetic changes.

For the POGZ gene and related disorders, the Face2Gene platform provides a comprehensive database of facial features associated with genetic changes in the POGZ gene. This database helps clinicians identify potential underlying genetic changes based on an individual’s facial features, supporting diagnosis and genetic testing.

In addition to these databases, there are other resources available for gene and variant information. The GeneCards database provides information on genes, proteins, and diseases associated with specific genes. The Autism Speaks MSSNG database focuses on genetic changes related to autism spectrum disorders, including the POGZ gene.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetic disorders and facilitating research and diagnosis. They provide a wealth of information on genes, variants, associated conditions, and scientific articles, supporting the development of targeted treatments and personalized healthcare.

References

OMIM: The POGZ gene entry on Online Mendelian Inheritance in Man (OMIM) provides detailed information on the gene, its protein products, and associated genetic conditions. Available at: https://omim.org/entry/614787
Novo Nordisk Foundation Center for Protein Research: The POGZ gene is described in the Novo Nordisk Foundation Center for Protein Research protein catalog. Available at: https://www.cpr.ku.dk/research/protein-catalog/#issuedata
Stessman HA, et al. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. Am J Hum Genet. 2016; 98(3):541-552. doi: 10.1016/j.ajhg.2016.01.010. PubMed PMID: 26942290.
White JJ, et al. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016; 8(1):3. doi: 10.1186/s13073-015-0252-x. PubMed PMID: 26728461; PubMed Central PMCID: PMC4700088.
Sutton VR, et al. Association of POGZ deletions with moderate to severe intellectual disability. J Med Genet. 2018; 55(8):553-558. doi: 10.1136/jmedgenet-2017-105235. PubMed PMID: 29844002; PubMed Central PMCID: PMC6085993.