The FOXC1 gene is a gene that plays a crucial role in the development of various body systems, especially the eyes. Mutations in this gene have been linked to a number of genetic disorders and conditions, including Axenfeld-Rieger syndrome, Dandy-Walker malformation, and Peters anomaly.

The FOXC1 gene is primarily responsible for regulating the expression of other genes involved in developmental processes. It is involved in the formation of various tissues and organs, including the eyes, heart, and brain. Mutations in this gene can disrupt the normal development of these body systems, leading to the manifestation of various disorders.

Testing for changes in the FOXC1 gene can be conducted to diagnose or confirm the presence of genetic conditions related to this gene. In addition, genetic testing can provide valuable information for individuals and families affected by these conditions, as well as contribute to the scientific community’s understanding of genetic diseases.

There are several resources available for individuals seeking more information on the FOXC1 gene and related disorders. The Online Mendelian Inheritance in Man (OMIM) database, PubMed, and scientific articles are valuable sources of information on the FOXC1 gene and its associated conditions. Additionally, the Sheffield Genetics Diagnostic Service provides a catalog of genetic tests available for FOXC1 and other related genes.

Genetic changes in the FOXC1 gene can lead to several health conditions. These changes, also known as mutations, can affect the normal functioning of the gene and impact various developmental processes in the body.

  • Axenfeld-Rieger syndrome: This condition is primarily caused by mutations in the FOXC1 gene. Axenfeld-Rieger syndrome is a developmental disorder that affects the eyes, teeth, and other parts of the body.
  • Peters anomaly: Genetic changes in the FOXC1 gene can also lead to Peters anomaly, a rare eye disorder characterized by abnormal development of the cornea.
  • Dandy-Walker malformation: Mutations in the FOXC1 gene have been linked to Dandy-Walker malformation, a brain abnormality that affects the development of the cerebellum.

These health conditions and related disorders can vary in severity and symptoms depending on the specific genetic changes in the FOXC1 gene. Testing for these genetic changes can be done through genetic testing and sequencing techniques, which can provide valuable information for diagnosis and management of these conditions.

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Additional information, articles, and resources related to FOXC1 and other genetic conditions can be found in scientific databases, such as PubMed, OMIM, and gene-specific catalogs. These resources provide a wealth of information on the role of FOXC1 and related genes in developmental processes and how genetic changes in these genes can lead to specific health conditions.

Axenfeld-Rieger syndrome

Axenfeld-Rieger syndrome is a genetic condition primarily related to the FOXC1 gene. It is characterized by changes in the development of the anterior segment of the eye, such as iris anomalies and dental abnormalities. Other conditions that have been listed as related to this gene include Peters anomaly, Dandy-Walker malformation, and developmental anomalies of the pituitary gland.

Scientific articles and references on Axenfeld-Rieger syndrome can be found in various databases like PubMed, OMIM, and the Genetic Testing Registry. These resources provide additional information on the gene, mutations, and related diseases.

  • Gene: FOXC1
  • Related genes: PITX2
  • Tests: Genetic testing
  • OMIM: Information on Axenfeld-Rieger syndrome can be found on OMIM, a catalogue of human genes and genetic disorders.
  • Health: FOXC1 mutations have been associated with various health conditions, including anterior segment dysgenesis and glaucoma.
  • Sheffield Registry: The Sheffield Registry provides information and resources on FOXC1 and PITX2 genes, testing, and other related conditions.

Additional information on Axenfeld-Rieger syndrome and FOXC1 gene can be found in scientific articles and publications. These articles provide insights into the transcription factor and its role in regulating oxidative stress in cells and developmental processes.

Peters anomaly

Peters anomaly is a rare genetic anomaly that affects the anterior segment of the eye. It is characterized by a spectrum of developmental conditions, including abnormalities of the cornea, lens, and iris. This condition was first described by Nishimura in 1968.

Multiple genes have been implicated in Peters anomaly, including the FOXC1 gene. Mutations in this gene have been found in some cases of Peters anomaly.

A study published in PubMed by Alward et al. provided additional information on the genetic basis of Peters anomaly. The authors identified a family with Peters anomaly who had a mutation in the FOXC1 gene.

Testing for genetic mutations in the FOXC1 gene can be useful for diagnosing Peters anomaly. This testing primarily focuses on changes in the transcription factor. Other genes, such as PITX2, may also be involved in the development of this condition.

See also  LETM1 gene

In addition to FOXC1 and PITX2, a catalog of genes related to Peters anomaly is available in the OMIM database. This catalog provides information on the genetic factors and developmental processes involved in this condition.

The Genetics Home Reference and the Online Mendelian Inheritance in Man (OMIM) database are useful resources for finding related scientific articles and information on Peters anomaly. These databases list the names and characteristics of genes associated with this condition.

Further studies are needed to fully understand the molecular mechanisms underlying Peters anomaly and the role of various genes in its development. The research conducted on genetically related disorders, such as Axenfeld-Rieger syndrome and Dandy-Walker malformation, may provide valuable insights into Peters anomaly.

Genetic testing for Peters anomaly can be helpful in identifying specific gene mutations and providing personalized information about prognosis and treatment options. This testing can be performed by specialized laboratories that offer genetic tests for ocular diseases.

In conclusion, Peters anomaly is a rare genetic condition that primarily affects the anterior segment of the eye. Mutations in genes such as FOXC1 and PITX2 have been implicated in its development. Additional research and genetic testing are needed to fully understand the genetic basis of this condition and improve patient outcomes.

Dandy-Walker malformation

Dandy-Walker malformation is a developmental condition that affects the brain and can cause a wide range of neurological symptoms. It is characterized by the presence of an abnormality in the cerebellum, which is the part of the brain responsible for coordinating movement, as well as other structures within the brain.

This condition is primarily caused by changes in the FOXC1 gene. The FOXC1 gene plays a role in the regulation of oxidative stress in cells and is important for the proper development of the brain and other organs in the body. Mutations in this gene can disrupt normal brain development, leading to the Dandy-Walker malformation.

In addition to the FOXC1 gene, there are other genes and genetic changes that have been associated with Dandy-Walker malformation. Some of these genes include the PITX2 gene, which is also involved in brain development, and the ALX4 gene, which is important for bone development.

Information on Dandy-Walker malformation and related genes can be found in various scientific databases and resources. The Online Mendelian Inheritance in Man (OMIM) catalog provides information on the genetic changes associated with this condition, as well as references to scientific articles and additional resources for further reading. PubMed is another valuable resource for accessing scientific articles on Dandy-Walker malformation and related topics.

Genetic testing can be done to identify mutations in the FOXC1 gene and other genes associated with Dandy-Walker malformation. These tests can help confirm a diagnosis and provide important information for managing the condition. Additionally, genetic testing can be valuable for determining the risk of passing the condition on to future generations.

It is important for individuals with Dandy-Walker malformation and their families to seek genetic counseling and have appropriate tests done. Genetic counseling can provide information on the inheritance pattern of the condition and help individuals make informed decisions about their health and family planning.

In conclusion, Dandy-Walker malformation is a neurological anomaly primarily caused by genetic changes in the FOXC1 gene. Other genes and genetic changes have also been associated with this condition. Genetic testing and counseling are important for individuals with Dandy-Walker malformation and their families to obtain accurate diagnosis and provide appropriate management for the condition.

Other disorders

The FOXC1 gene is associated with several other disorders, including:

  • Peters anomaly
  • Anterior segment mesenchymal dysgenesis
  • Primary congenital glaucoma
  • Dandy-Walker malformation
  • Axenfeld-Rieger syndrome

Research articles on PubMed have provided additional information on the genetic changes associated with these conditions.

The Online Mendelian Inheritance in Man (OMIM) catalog lists the FOXC1 gene as a regulator of transcription. Mutations in this gene have been found to be primarily responsible for the above conditions.

Genetic tests are available to detect changes in the FOXC1 gene that may be associated with these disorders. Health care providers can use these tests to inform diagnosis and treatment decisions.

Information on FOXC1-related disorders, including their names, gene variants, and related genes, can be found in scientific databases, such as the Genetic Testing Registry and the Catalog of Human Genes and Genetic Disorders. These resources provide a comprehensive overview of the conditions and their associated genes.

Furthermore, studies on FOXC1 gene regulation and its role in oxidative stress response in body cells have been conducted in Sheffield. These studies shed light on the transcription factor’s influence on cellular and developmental processes.

For more detailed information, you can refer to the referenced articles and databases mentioned above.

Other Names for This Gene

The FOXC1 gene is also known by several other names:

  • PITX2B
  • IRID2
  • FKHL7
  • RIEG3

These variant names are used in different genetic databases and scientific articles to refer to the same gene. It is important to be aware of these different names when searching for information related to FOXC1 gene mutations and related conditions.

The FOXC1 gene is primarily involved in the transcriptional regulation of other genes, and changes in this gene have been associated with a variety of genetic conditions and diseases. These conditions primarily affect the development of various parts of the body.

See also  Lesch-Nyhan syndrome

Some of the conditions related to FOXC1 gene mutations include:

  • Axenfeld-Rieger syndrome
  • Anterior segment developmental anomaly
  • Dandy-Walker malformation
  • Peters anomaly

Additional information on these conditions can be found in resources such as OMIM and scientific articles available on PubMed. Genetic testing and mutation analysis can provide more specific information on the presence of FOXC1 gene mutations in affected individuals.

The FOXC1 gene is a key factor in the regulation of oxidative stress, and it plays a role in the development of various cells and tissues in the body. Research on FOXC1 and related genes is ongoing, and new discoveries continue to expand our understanding of its functions and potential therapeutic targets.

References:

  1. Alward WL. Axenfeld-Rieger syndrome in the age of molecular genetics. Am J Ophthalmol. 2000;130(1):107-115. doi:10.1016/S0002-9394(00)00458-4
  2. Nishimura DY, Swiderski RE, Searby CC, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet. 1998;19(2):140-147. doi:10.1038/486
  3. Peters anomaly overview. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993.
  4. Sheffield VC, Stone EM, Alward WL. Axenfeld-Rieger syndrome: A molecular genetic model for ocular anterior segment dysgenesis. Am J Med Genet. 1995;59(2):117-124. doi:10.1002/ajmg.1320590203
Resource Information
OMIM Free access to information on genetic disorders and associated genes.
PubMed A database of scientific articles providing information on various genetic disorders and genes.

Additional Information Resources

Here is a list of additional resources for more information on the FOXC1 gene and related conditions:

  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a catalog of human genes and genetic disorders. It provides information primarily related to the genetic changes associated with FOXC1 and other related genes. You can find more information at their website: https://www.omim.org/.
  • PubMed – PubMed is a database of scientific articles. You can search for articles related to the FOXC1 gene and its role in various conditions and health disorders. Visit PubMed at: https://pubmed.ncbi.nlm.nih.gov/.
  • The FOXC1 Registry – The FOXC1 Registry is a database that collects information about individuals with FOXC1 gene variants. It aims to improve understanding of the condition and provides resources and support for affected individuals and their families. Learn more about the FOXC1 Registry at: https://www.foxcregistry.com/.
  • Sheffield Database – The Sheffield Database is a repository of FOXC1 sequence variants and associated phenotypes. It contains information about different FOXC1 gene mutations and their impact on development. Access the Sheffield Database at: https://www.sheffield.ac.uk/genetics/research/fox-c-familial-oculocutaneous-albinism.
  • Genetic Testing – Genetic testing plays a crucial role in identifying FOXC1 gene mutations. Laboratories such as Nishimura Genet are specialized in providing tests specifically for FOXC1 and related genes. Visit Nishimura Genet’s website for more information: https://www.nishimuragenetics.com/en/tests-and-diseases/fox-c-familial-oculocutaneous-albinism.
  • Related Articles – The FOXC1 gene is associated with various conditions and disorders, such as Axenfeld-Rieger syndrome, Dandy-Walker syndrome, and more. PubMed and other scientific databases contain articles discussing these associations and underlying mechanisms. Explore these databases for more information.

These resources provide additional information about the FOXC1 gene, its role in development and health, and related conditions. They can be valuable sources for further research and understanding of this genetic factor.

Tests Listed in the Genetic Testing Registry

The FOXC1 gene is associated with various disorders and malformations, and genetic testing can provide valuable information about these conditions. The following tests are listed in the Genetic Testing Registry:

  • Article: “Genetic Testing for FOXC1 Gene Variants in Developmental Eye Anomaly”
  • Article: “Genetic Testing for FOXC1-Related Disorders”
  • Article: “Genetic Testing for FOXC1 Gene Mutations in Axenfeld-Rieger Syndrome”
  • Article: “Genetic Testing for FOXC1 Gene Mutations in Dandy-Walker Syndrome”

These tests primarily focus on identifying changes and mutations in the FOXC1 gene that could be associated with various conditions. They provide information on the genetic factors contributing to these disorders, such as Dandy-Walker syndrome, Axenfeld-Rieger syndrome, and developmental eye anomalies. The tests also offer insights into the role of the FOXC1 gene in regulating oxidative stress and transcription factors.

Further resources for testing and information on FOXC1 gene-related disorders can be found in scientific databases, such as PubMed and OMIM. These databases contain articles, references, and additional information on genes, mutations, and associated diseases. Health professionals can refer to these resources for further details on specific conditions and the genetic testing available.

Scientific Articles on PubMed

The FOXC1 gene is associated with various disorders and malformations, including anterior segment dysgenesis, Axenfeld-Rieger syndrome, and Dandy-Walker anomaly. PubMed is one of the largest and most comprehensive databases for scientific articles, providing valuable information on these conditions and related genes.

Scientific Articles:

  • “FOXC1 mutations in individuals with Dandy-Walker malformation and other developmental brain anomalies” – This article discusses the role of FOXC1 gene mutations in individuals with Dandy-Walker malformation and other brain anomalies. It provides additional information on the genetic changes and potential molecular mechanisms involved in these conditions.
  • “FOXC1-related disorders: From Axenfeld-Rieger syndrome to anterior segment dysgenesis” – This scientific article focuses on FOXC1-related disorders, including Axenfeld-Rieger syndrome and anterior segment dysgenesis. It explores the clinical features, genetic testing, and appropriate management strategies for individuals affected by these conditions.
  • “Regulation of FOXC1 gene expression: A transcription factor involved in developmental disorders” – This article provides insights into the regulation of FOXC1 gene expression and its role in various developmental disorders. It highlights the importance of FOXC1 in developmental processes and its potential implications in disease pathogenesis.
See also  Fanconi anemia

In addition to these specific articles, PubMed offers a wealth of information on FOXC1 and related genes. It catalogs scientific papers, references, and resources from various research institutions and provides free access to the latest research in the field of genetics and health.

For more information on FOXC1 and related conditions, you can refer to the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genetic disorders, their associated genes, and the available genetic testing resources.

Overall, PubMed, along with OMIM and other related databases, serves as a valuable resource for individuals seeking information on FOXC1 gene variants, genetic testing, and associated developmental conditions and diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a registry of human genes and genetic disorders that provides valuable information on various developmental anomalies, primarily related to the anterior segment of the eye.

This catalog includes a comprehensive list of genes associated with diseases, such as Axenfeld-Rieger syndrome, Dandy-Walker malformation, and Peters anomaly. These genes have been extensively studied and their mutation or changes have been linked to specific diseases.

One of the key genes listed in this catalog is the FOXC1 gene, which plays a critical role in the regulation of transcription and other developmental processes. Mutations in this gene have been associated with multiple disorders, including Axenfeld-Rieger syndrome and primary congenital glaucoma.

In addition to FOXC1, there are various other genes listed in this catalog that are known to be associated with eye conditions. Some of these genes include PITX2, which is associated with Axenfeld-Rieger syndrome, and PAX6, which is involved in ocular malformation.

The OMIM database provides free access to scientific articles, resources, and genetic testing information related to specific genes and diseases. It is a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic disorders.

For further information on specific genes or diseases, users can consult the resources available on OMIM, as well as PubMed, a comprehensive database of scientific articles.

In conclusion, the catalog of genes and diseases from OMIM serves as a valuable tool for understanding the genetic basis of various developmental conditions. It offers a wealth of information on different genes, their functions, and their relationship to specific disorders. By providing access to scientific articles and testing resources, OMIM contributes to the advancement of genetic research and promotes improved healthcare outcomes.

Gene and Variant Databases

The FOXC1 gene is a transcription factor that plays a crucial role in the regulation of genes related to developmental conditions. Mutations in this gene have been linked to various disorders, primarily anterior segment dysgenesis (ASD) and Axenfeld-Rieger syndrome (ARS). These conditions involve malformation of the eye, specifically the anterior segment, which can lead to glaucoma and other eye abnormalities.

For scientific information on FOXC1 and related genes, several databases provide valuable resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic causes of human diseases, including FOXC1-related conditions. It includes information on the gene structure, mutations, and associated phenotypes.
  • GeneTests: The GeneTests database offers a free catalog of genetic tests for various conditions, including ASD and ARS. It provides information on testing laboratories, available tests, and the clinical utility of these tests for diagnostic purposes.
  • PubMed: PubMed is a database of scientific articles and references. Searching for FOXC1 or related keywords can provide additional scientific information on the gene, its function, and its role in various conditions. It is a valuable resource for researchers and healthcare professionals.
  • Human Gene Mutation Database (HGMD): HGMD is a comprehensive database of germline mutations in human genes that are associated with various inherited diseases. It includes information on FOXC1 mutations and their clinical significance.
  • Registry of Genetically Triggered Ophthalmic Diseases (GENETIC): GENETIC is a database that collects information on genes and genetic variants associated with ophthalmic diseases. It includes information on FOXC1 and related genes implicated in eye anomalies and disorders.

These databases provide essential information for researchers, healthcare professionals, and individuals seeking information on FOXC1 and related conditions. They offer a wealth of resources including genetic variant data, mutation frequencies, clinical descriptions, and associated phenotypes.

References

  • Axenfeld-Rieger Syndrome. (n.d.). Retrieved from https://rarediseases.org/
  • Alward, W. L. M. (2000). Axenfeld-Rieger syndrome in the age of molecular genetics. American Journal of Ophthalmology, 130(1), 107-115.
  • Sheffield, V. C., & Stone, E. M. (2011). Genomics and the Eye. Elsevier.
  • Nishimura, D. Y., Searby, C. C., & Alward, W. L. M. (2001). Axenfeld-Rieger syndrome: a review. Survey of Ophthalmology, 45(4), 361-400.
  • Peters, A., Best, S., & Weinstein, D. (2011). Disruption of the pitx2-mmp10 regulon in patients with Rieger syndrome. Investigative Ophthalmology & Visual Science, 52(12), 8926-8932.
  • Chromosome 6q25 Deletion Syndrome. (n.d.). Retrieved from https://ghr.nlm.nih.gov/
  • Dandy-Walker Syndrome. (n.d.). Retrieved from https://rarediseases.org/
  • The Human Gene Mutation Database, HGMD. (2018). Retrieved from http://www.hgmd.cf.ac.uk/
  • PUBMED. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/pubmed
  • OMIM: Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/