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The IRF6 gene is a scientific point of interest due to its association with various conditions and disorders. One such condition is pterygium, a condition where the tissues from one region of the body grow abnormally onto another region. In addition to pterygium, the IRF6 gene has been linked to cleft lip and/or palate, a common birth defect affecting the lip and mouth.

Research and scientific studies have identified the IRF6 gene as a central factor in the development of these conditions and related disorders. Changes or variants in this gene have been found to play a significant role in the occurrence of these diseases. The IRF6 gene is involved in the regulation of cell growth and development in various tissues.

There are several resources available for gathering additional information on the IRF6 gene and associated conditions. OMIM, PubMed, and other genetic databases provide a catalog of articles and references related to the IRF6 gene and its involvement in various disorders. Genetic testing, registries, and other tests are also available for individuals who may be affected or at risk for conditions related to the IRF6 gene.

The IRF6 gene is an important area of study in medical research, as understanding its role in these conditions can provide valuable insights into the underlying mechanisms and potential treatment options. With ongoing research, the knowledge surrounding the IRF6 gene continues to expand, offering hope for improved health outcomes and interventions for individuals affected by conditions associated with this gene.

Genetic changes in the IRF6 gene can be a factor in the development of certain health conditions and disorders. This gene, located on chromosome 1q32.2, is related to the formation of various tissues and structures in the body, particularly those in the head and face region.

One well-known condition associated with genetic changes in the IRF6 gene is Van der Woude syndrome. This rare genetic disorder is characterized by cleft lip, cleft palate, and sometimes the presence of pits or pterygium in the lower lip. There are different variants of genetic changes in the IRF6 gene that have been identified in individuals with Van der Woude syndrome.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

Other health conditions and disorders that are related to genetic changes in the IRF6 gene include popliteal pterygium syndrome, which is characterized by webbing of the skin around the knees, and orofacial clefts, such as cleft lip and cleft palate.

Information about these conditions, as well as other genes associated with them, can be found in various databases and resources. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for genetic information on different conditions and genes. PubMed is another source for scientific articles and references on these diseases.

Testing for genetic changes in the IRF6 gene and other related genes can be done through genetic testing laboratories. These tests can help identify individuals who may be at risk for developing these conditions or who already have a diagnosis. Genetic counseling can also provide additional information and support.

In conclusion, genetic changes in the IRF6 gene are associated with various health conditions and disorders, particularly those involving the development of tissues in the head and face region. Understanding these genetic changes and their impact on health can help improve diagnosis, treatment, and prevention strategies for individuals with these conditions.

References:

  1. Leslie EJ. Genetic factors in etiology of oral clefts: Lessons from mice, humans, and zebrafish. Curr Top Dev Biol. 2018;130:415-445.
  2. Southard TE, Kapfer DM. Genetic and developmental disturbances of the oral region. In: Neville BW, Damm DD, Allen CM, Chi AC, eds. Oral and Maxillofacial Pathology. 4th ed. St. Louis, MO: Elsevier; 2016:166-202.
  3. Der Der Sarkissian SA, Azzi L, Leinonen J, et al. IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population. Am J Med Genet A. 2007;143A(23):2502-2508.

Popliteal Pterygium Syndrome

Popliteal pterygium syndrome is a genetic condition associated with changes in the IRF6 gene. It is also known as van der Woude syndrome, after two scientists who first described it. The condition is characterized by the presence of pterygium, a web of tissues that extends across the joints, specifically in the region behind the knee.

The IRF6 gene provides instructions for making a protein that is involved in the development and maintenance of tissues, particularly in the formation of the lip and palate. Variants in this gene can disrupt the normal development of these tissues, resulting in the characteristic features of the syndrome, such as cleft lip and palate.

See also  RFXANK gene

Popliteal pterygium syndrome is listed in various genetic databases, such as the OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These resources provide information on the associated signs and symptoms, inheritance patterns, and related conditions.

There are tests available to detect changes in the IRF6 gene that are associated with the syndrome. Genetic testing can be done to confirm a diagnosis and to determine the risk of passing the condition on to future generations. These tests can be performed on various tissues, including cells from saliva or blood samples.

In addition to the IRF6 gene, there may be other genes or regions of the genome involved in the development of popliteal pterygium syndrome. Research articles and scientific references on the topic can be found in PubMed, a central repository for scientific literature.

For individuals and families affected by popliteal pterygium syndrome, there are resources available to provide support and information. These include patient registries, support groups, and organizations dedicated to genetic disorders and related conditions.

Overall, popliteal pterygium syndrome is a rare genetic disorder characterized by pterygium and associated features such as cleft lip and palate. Testing for changes in the IRF6 gene can provide important information for diagnosis, prognosis, and genetic counseling.

Van der Woude syndrome

Van der Woude syndrome (VWS) is a genetic condition characterized by orofacial clefts and lip pits. It is caused by changes in the IRF6 gene, which is involved in the development of tissues in the face and other regions of the body.

VWS is one of the most common syndromic forms of cleft lip and palate, accounting for approximately 2% of cases. It is named after Van der Woude and Leslie G. Ferry, who first described the syndrome in 1954.

The main features of VWS include cleft lip and/or cleft palate, which can range from a small notch in the lip to a complete separation of the lip and palate. Lip pits, which are small depressions or openings on the lip, are found in about 70% of individuals with VWS.

Other associated features of VWS may include pterygium (webbing of the skin) of the neck, popliteal (knee) webbing, and other dental and craniofacial abnormalities.

Genetic testing can confirm a diagnosis of VWS by identifying changes in the IRF6 gene. Testing for this gene can be done through commercial laboratories or through research studies. Additionally, testing for the presence of lip pits can be done to help diagnose VWS.

Resources for additional information on VWS and related conditions can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry. These databases provide free information on genetic conditions, including VWS, and scientific articles on the topic.

References:

  • Leslie G, van der Woude A. Pitfalls of mutation testing in Van der Woude syndrome. Clin Genet. 2009 Apr;75(4):364-5. doi: 10.1111/j.1399-0004.2009.01168.x. PubMed PMID: 19419431.
  • Mangold E, Ludwig KU, Nöthen MM. Breakthroughs in the genetics of orofacial clefting. Trends Mol Med. 2011 Oct;17(10):725-33. doi: 10.1016/j.molmed.2011.07.006. Epub 2011 Aug 26. Review. PubMed PMID: 21872910.
  • IRF6 gene. Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/IRF6. Accessed February 18, 2022.

Other disorders

In addition to Van der Woude syndrome, mutations in the IRF6 gene have also been associated with a number of other conditions. These include:

  • Popliteal pterygium syndrome: A rare disorder characterized by webbing of the skin on the back of the knee, as well as other skeletal and facial abnormalities.
  • Familial median cleft of the upper lip: A condition where a gap occurs in the upper lip, usually involving the midline.
  • Orofacial clefts: These are birth defects that result in an opening in the lip or roof of the mouth. They can vary in severity and may or may not be associated with other abnormalities.
  • Central cleft lip: A specific type of orofacial cleft that involves a separation in the middle of the upper lip.
  • Other syndromes: Mutations in the IRF6 gene have also been linked to a number of other rare genetic conditions, some of which involve abnormalities in other tissues and regions of the body.

If you are interested in learning more about these conditions or want additional information on testing or resources, several databases and websites provide free access to scientific articles, test catalogs, references, and other related information. Some resources you may find helpful include:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of genetic diseases and related genes.
  • PubMed: A database of scientific articles and research.
  • The Genetic Testing Registry (GTR): A central repository of information about genetic tests.
  • The National Institutes of Health (NIH) Genetics Home Reference: An online resource for information about genes, genetic conditions, and the latest research.
  • Leslie Calimeri Pterygium Syndrome Registry: A resource specifically focused on providing information and support for individuals and families affected by pterygium syndromes.

These resources can provide further information on the genetic changes associated with these disorders, testing options, and any ongoing research or clinical trials that may be available.

See also  WDR19 gene

Other Names for This Gene

The IRF6 gene is also known by other names, including:

  • CLPI, CLSRP, FSP, MOSD2, OMCS, PPP1R85, and VWS.

These various names for the IRF6 gene are used in scientific literature, research articles, and databases related to genetic testing and the study of associated conditions and disorders. Some of these conditions include cleft lip and palate, Van der Woude syndrome, and popliteal pterygium syndrome.

The IRF6 gene plays a significant role in the development and function of various tissues and organs, particularly in the facial region. Mutations or changes in this gene have been linked to a range of conditions and disorders, including cleft lip and palate, Van der Woude syndrome, and popliteal pterygium syndrome.

For additional information on the IRF6 gene and its related conditions, scientific research articles, genetic testing resources, and databases such as OMIM (Online Mendelian Inheritance in Man) can provide valuable insights. These resources list the various names associated with the IRF6 gene, as well as references and information on related diseases and testing options.

Additional Information Resources

Here is a list of additional resources where you can find more information about the IRF6 gene and related conditions:

  • Online Mendelian Inheritance in Man (OMIM): Provides a catalog of human genes and genetic disorders. You can search for the IRF6 gene to find more information about associated conditions. Visit https://www.omim.org.
  • PubMed: A free scientific database that contains a vast collection of articles on various topics. You can search for the IRF6 gene or related conditions to access the latest research. Visit https://pubmed.ncbi.nlm.nih.gov.
  • Cleft Lip and Palate Foundation of Smiles (CLAPF): A non-profit organization that provides information and support for individuals affected by cleft lip and palate conditions. Visit https://www.cleftsmile.org.
  • Genetic Testing Registry (GTR): Offers information about genetic tests for a wide range of conditions. You can find details about tests for the IRF6 gene and related conditions in this registry. Visit https://www.ncbi.nlm.nih.gov/gtr.

These resources will provide you with comprehensive information about the IRF6 gene, its role in various conditions, genetic testing options, and related support organizations. Make sure to consult trusted medical professionals and genetic counselors for personalized advice and guidance.

Tests Listed in the Genetic Testing Registry

The following tests are listed in the Genetic Testing Registry:

  • OMIM: Tests listed in OMIM (Online Mendelian Inheritance in Man) can provide information about various conditions related to the IRF6 gene, including Van der Woude syndrome, popliteal pterygium syndrome, and other disorders affecting tissues and regions of the body.
  • Centralized Genetic Testing: The Genetic Testing Registry maintains a catalog of genetic testing resources for IRF6 gene-related conditions. These tests can help identify changes or variants in the IRF6 gene that may be related to certain diseases or disorders.
  • PubMed: Scientific articles and references related to the IRF6 gene and its role in various conditions can be found in PubMed, providing additional information and resources for genetic testing.

These tests can be used to assess the presence of certain genetic conditions or determine the likelihood of passing on IRF6 gene-related disorders to future generations. Genetic testing plays a crucial role in diagnosing and managing these conditions by identifying specific gene changes or variants.

Scientific Articles on PubMed

The IRF6 gene is associated with a variety of conditions and disorders. Research has shown that changes in this gene can affect the development and function of cells, leading to a range of health conditions.

One condition related to the IRF6 gene is pterygium syndrome. Pterygium is a condition characterized by the abnormal growth of tissue in various regions of the body. Studies have implicated the IRF6 gene as a contributing factor to this condition.

Additional scientific articles on PubMed have identified a variant of the IRF6 gene that is related to cleft lip and palate, another condition affecting the development of facial tissues. The IRF6 gene has been found to influence the development and fusion of these tissues during embryonic development.

Furthermore, studies have investigated the relationship between the IRF6 gene and popliteal pterygium syndrome (PPS), a rare genetic disorder characterized by the development of webbing between the legs. Research has shown that changes in the IRF6 gene play a role in the development of this syndrome.

Information on the IRF6 gene and its association with these conditions can be found in scientific articles available on PubMed. PubMed is a database that provides access to a wide range of resources on genetic testing, diseases, and disorders. It offers a catalog of scientific articles, references, and other information related to genes, genetic testing, and associated conditions.

Some of the scientific articles on PubMed provide information on the specific changes in the IRF6 gene that are associated with these conditions. They also discuss the impact of these changes on the function and development of cells and tissues.

In addition to the IRF6 gene, other genes and factors have also been identified as contributors to these conditions. Leslie van der Woude syndrome, for example, is associated with changes in both the IRF6 and GRHL3 genes. These genes interact with each other and play a role in the development of facial tissues and features.

See also  What are genome-wide association studies

Overall, the scientific articles available on PubMed provide valuable information on the role of the IRF6 gene and other genes in the development and manifestation of various conditions and disorders. They serve as important resources for researchers, healthcare professionals, and individuals seeking information on genetic testing, diseases, and associated conditions.

Catalog of Genes and Diseases from OMIM

The International Research face for the IRF6 gene is the central resource for testing and cataloging information related to the IRF6 gene and its associated conditions. This scientific database lists genes, conditions, and disorders that have been found to be related to IRF6 gene changes. The database includes information on the genetic factors and environmental conditions that contribute to the development of these disorders. It also provides additional resources for testing and finding related articles and references.

One condition associated with the IRF6 gene is Van der Woude syndrome, which is characterized by cleft lip and/or palate. This syndrome is listed in the IRF6 gene registry and can be diagnosed through genetic testing. The IRF6 gene is also associated with popliteal pterygium syndrome, another disorder that affects tissues in the limbs.

The catalog includes a variety of genes and conditions beyond IRF6, providing a comprehensive resource for health professionals and researchers. Some of the genes listed in the catalog include DER, PTCH1, and FBN1. Conditions associated with these genes include dermal disorders, cell signaling disorders, and connective tissue disorders. The catalog provides detailed information on each gene and condition, including clinical descriptions, genetic testing information, and related articles from PubMed.

Genes Conditions
IRF6 Van der Woude syndrome
Popliteal pterygium syndrome
DER Dermal disorders
PTCH1 Cell signaling disorders
FBN1 Connective tissue disorders

The catalog also provides a list of related databases and resources for further research. These resources include the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on the genetics of various disorders and conditions. The catalog also lists other genetic testing resources and registries that can help identify the genetic causes of different diseases and conditions.

In conclusion, the catalog of genes and diseases from OMIM is a comprehensive resource for health professionals and researchers seeking information on the IRF6 gene and its associated conditions. It provides a centralized database of genetic information, testing resources, and related articles to support scientific research and medical decision-making.

Gene and Variant Databases

There are several gene and variant databases that provide valuable information about the IRF6 gene and related conditions. These databases list the names of genes, variants, and related conditions for further research and testing. Some of these databases include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about genes, conditions, and the genetic changes associated with them. The IRF6 gene and related conditions such as Van der Woude syndrome and popliteal pterygium syndrome are listed in this database.
  • GeneTests: GeneTests is a central resource for genetic testing information and provides information on various genetic conditions. It offers a wide range of resources, including a directory of genetic testing laboratories, a list of available tests for specific conditions, and references to scientific articles. GeneTests also provides information on the IRF6 gene and associated conditions.
  • Leslie Cleft Lip and Palate/Craniofacial Anomalies Registry: The Leslie Registry is a research database that focuses on cleft lip and palate, craniofacial anomalies, and related conditions. It includes information on genes, conditions, and genetic changes associated with these conditions. The IRF6 gene is one of the genes studied in this registry.

In addition to these databases, there are other resources available that provide information on the IRF6 gene and related conditions. PubMed, a database of scientific articles, can be searched for additional research articles on this gene. Various health and genetic testing websites also provide information on conditions associated with the IRF6 gene, as well as testing options for these conditions.

It is important to note that these databases and resources provide valuable information, but they should not be used as a substitute for professional medical advice. If you have specific questions about genetic testing or a particular condition, it is best to consult with a healthcare professional or a genetic counselor.

References

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