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The FLCN gene, also known as the folliculin gene, is associated with Birt-Hogg-Dubé (BHD) syndrome, a genetic condition in which individuals develop multiple types of cancers, including renal cell carcinoma (RCC), colorectal cancer, and spontaneous pneumothorax. BHD syndrome is caused by changes (mutations) in the FLCN gene, which is responsible for the production of the folliculin protein. These mutations can lead to the development of tumors, as folliculin plays a crucial role in the regulation of cell growth and function.

The FLCN gene is listed in various genetic databases and can be found in resources such as OMIM, PubMed, and Genet Test. Numerous scientific articles and references are available that provide additional information on the FLCN gene and its associated conditions. The National BHD Research Registry is a primary source of information and serves as a central repository for research and testing related to BHD syndrome.

In addition to its role in BHD syndrome, the FLCN gene has been implicated in other diseases and conditions. For example, studies have identified FLCN gene changes in sporadic cases of RCC and may be associated with other cancers as well. Researchers are actively investigating the function of the FLCN gene and its potential role in the development of different types of cancers.

Testing for mutations in the FLCN gene can be done using various genetic testing methods. Genetic counselors and healthcare professionals can provide individuals with more information on available tests and their implications for health and disease. Given the genetic nature of BHD syndrome and the potential risks associated with FLCN gene changes, genetic testing may be recommended for individuals with a family history of BHD syndrome or related cancers.

In conclusion, the FLCN gene, also known as the folliculin gene, is a key gene involved in Birt-Hogg-Dubé syndrome and the development of various cancers. It is listed in genetic databases and has been the subject of numerous scientific articles and references. Testing for mutations in the FLCN gene can provide valuable information related to an individual’s risk for developing BHD syndrome and associated conditions. Further research is needed to fully understand the function of the FLCN gene and its potential role in other diseases and cancers.

Genetic changes in the FLCN gene have been associated with several health conditions. Some of these conditions include:

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  • Birt-Hogg-Dubé syndrome: This syndrome is characterized by the formation of benign tumors in the skin, lung, and kidneys. People with Birt-Hogg-Dubé syndrome have an increased risk of developing renal cell carcinoma, colorectal cancer, and pneumothorax.
  • Hereditary leiomyomatosis and renal cell cancer (HLRCC): HLRCC is a condition that increases the risk of developing aggressive forms of renal cell carcinoma. It is caused by specific changes in the FLCN gene.
  • Spontaneous pneumothorax: Spontaneous pneumothorax is the collapse of the lung that occurs without any apparent cause. FLCN gene mutations have been found in individuals with a family history of spontaneous pneumothorax.
  • Turner syndrome: Turner syndrome is a genetic disorder that affects females. It is caused by the absence or structural abnormalities of one of the two X chromosomes. While FLCN gene mutations are not directly associated with Turner syndrome, studies have suggested a link between FLCN and certain features of Turner syndrome, such as short stature.
  • Folliculin-related kidney cancer: Changes in the FLCN gene have been identified in some individuals with sporadic forms of renal cell carcinoma. These changes may contribute to the development of kidney cancer.

Additional health conditions and diseases associated with genetic changes in the FLCN gene may be identified through scientific research. Genetic testing for these changes can be performed to confirm a diagnosis or determine the risk of developing certain conditions.

For more information on health conditions related to FLCN gene changes, the following resources may be helpful:

  1. OMIM (Online Mendelian Inheritance in Man): OMIM provides a comprehensive catalog of genes and genetic conditions, including those associated with FLCN gene changes.
  2. National Institutes of Health (NIH): The NIH offers various resources and articles on genetic conditions, including information on FLCN gene-related conditions.
  3. PubMed: PubMed is a database of scientific articles that can provide further information on studies and research related to genetic changes in the FLCN gene.

Genetic testing can provide valuable information about an individual’s genetic makeup and the potential health risks associated with specific genetic changes. Consult with a healthcare professional or a genetic counselor for more information on the testing process and the interpretation of results.

Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé syndrome (BHD) is a rare genetic condition that is inherited in an autosomal dominant manner. It is caused by mutations in the FLCN gene, also known as the BHD gene. BHD syndrome is characterized by the development of multiple noncancerous tumors in the skin, kidneys, and lungs, along with an increased risk of certain types of cancer.

Individuals with BHD syndrome may present with a wide range of clinical features. They may develop multiple fibrofolliculomas, which are small, skin-colored or reddish-brown bumps that typically appear on the face, neck, and upper body. Other skin manifestations, such as trichodiscomas and acrochordons, may also be present.

See also  Cutis laxa

BHD syndrome is also associated with an increased risk of kidney tumors, including renal cell carcinoma. These tumors can be sporadic or bilateral and may present at an early age. Additionally, individuals with BHD syndrome have a higher risk of developing pneumothorax, a condition in which air leaks into the space between the lungs and the chest wall, leading to a collapsed lung.

To diagnose BHD syndrome, genetic testing can be performed to identify mutations in the FLCN gene. Testing can be done using various methods, such as DNA sequencing or targeted variant analysis. Testing is usually recommended for individuals with a clinical diagnosis of BHD syndrome or a family history of the condition.

There are several resources available for individuals seeking more information about BHD syndrome. The National Institutes of Health (NIH) provides information on their Genetic and Rare Diseases (GARD) Information Center website. The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource that contains a catalog of genes associated with human diseases.

Scientific articles on BHD syndrome can be found on databases such as PubMed. These articles provide additional information on the genetics, clinical features, and management of the condition. Some of the key researchers in the field include Dr. Laura S. Schmidt, Dr. Mark R. Linehan, and Dr. W. Marston Linehan, among others.

Selected References
References Additional Resources
1. Schmidt, L. S., Linehan, M. W. (2018). Genetic predisposition to kidney cancer. Advances in chronic kidney disease, 25(5), 414-421. PubMed
2. Linehan, W. M. (2012). Birt-Hogg-Dubé syndrome: diagnosis and management. The lancet oncology, 13(7), e289-e298. PubMed
3. Mahé, E., & Linehan, W. M. (2018). Birt-Hogg-Dubé syndrome: a model for human hereditary cancer predisposition. Genes, development, and cancer, 53(12), 751-761. PubMed

Primary spontaneous pneumothorax

Primary spontaneous pneumothorax is a health condition associated with the FLCN gene. This gene is listed in various scientific databases and is also known by other names such as Birt-Hogg-Dubé syndrome, FLCN, and folliculin.

In individuals with primary spontaneous pneumothorax, changes in the FLCN gene can lead to the development of this condition. The exact genetic changes within the FLCN gene that cause primary spontaneous pneumothorax are still being studied.

Studies have identified that variants in the FLCN gene can result in sporadic cases of primary spontaneous pneumothorax. These findings have been documented in scientific articles and references can be found in resources such as PubMed.

It is important for individuals with a family history of primary spontaneous pneumothorax to consider genetic testing for mutations in the FLCN gene. Testing for genetic changes in this gene can provide valuable information for diagnosis and management of the condition.

Additionally, individuals with primary spontaneous pneumothorax may also have an increased risk for other related conditions such as renal cancers and colorectal cancers. These associations have been documented in the scientific literature and can provide further information for healthcare professionals.

For more information about primary spontaneous pneumothorax and the FLCN gene, resources such as OMIM (Online Mendelian Inheritance in Man) and the Birt-Hogg-Dubé Syndrome Genetic Testing Registry can be consulted.

Other cancers

While the primary function of the FLCN gene is associated with Birt-Hogg-Dubé syndrome, it has also been found to be implicated in other types of cancers. Information on these cancers can be found on scientific databases such as OMIM and PubMed. Many genetic changes in the FLCN gene have been identified in cancers other than Birt-Hogg-Dubé syndrome.

For example, FLCN gene variants have been linked to renal cell carcinomas, spontaneous pneumothorax, and sporadic colorectal cancer. Studies have shown that mutations in the FLCN gene can contribute to the development of these conditions.

The FLCN gene is also associated with other genetic diseases and conditions. It has been identified in Turner syndrome, central respiratory drive defects, and folliculin-related disorders. These conditions may present with similar symptoms to Birt-Hogg-Dubé syndrome, and testing for FLCN gene mutations can be helpful in their diagnosis.

Additional information and resources can be found in genetic databases, such as the Genetic Testing Registry for FLCN gene-related conditions. Numerous articles and references are available on platforms like PubMed, providing further insight into the role of FLCN gene changes in other cancers and related diseases.

In summary, while the FLCN gene is primarily associated with Birt-Hogg-Dubé syndrome, it also plays a role in the development of other cancers and genetic conditions. Genetic changes in this gene have been identified in renal cell carcinomas, spontaneous pneumothorax, and sporadic colorectal cancer, among others. Further research and testing are needed to fully understand the impact of FLCN gene mutations in these conditions.

Other Names for This Gene

The FLCN gene is also known by the following names:

  • BHD gene
  • FCLN
  • Birt-Hogg-Dubé syndrome gene
  • FLCN gene
  • FLCN-C
  • FLCN-FNIP1 fusion gene
  • FLCNA
  • FNIP1-interacting gene 1
  • FNIP1L
  • HERC7
  • Ovulation-related gene 1
  • PCLP

These names reflect the various discoveries, changes, and advancements in the understanding of this gene. The FLCN gene is associated with various conditions and cancers, and its function has been the subject of scientific research. The FLCN gene is primarily associated with the Birt-Hogg-Dubé syndrome, a rare genetic disorder characterized by skin lesions, lung cysts, and an increased risk of developing kidney cancer. The gene has also been linked to sporadic cases of renal cell carcinoma, colorectal cancer, and other cancers.

Additional information about the FLCN gene can be found in various databases and resources, including the OMIM (Online Mendelian Inheritance in Man) database, where it is listed as Gene ID: 201163. The FLCN gene is also present in the central registry of the Turner Syndrome Society of the United States. Testing for changes in this gene can be done through genetic tests, which can help identify individuals who may be at an increased risk of developing related diseases. References to the FLCN gene can be found in scientific articles from the PubMed database, a comprehensive resource for health and medical research.

See also  Peters plus syndrome

In summary, the FLCN gene, also known by its various names, is associated with several genetic conditions and cancers. Its functions and changes in the gene have been extensively studied and documented in scientific research articles. Resources such as PubMed, OMIM, and genetic testing databases provide valuable information about the FLCN gene and its role in human health and diseases.

Additional Information Resources

  • Birt-Hogg-Dubé Syndrome (BHD) – A collection of articles and resources related to the health conditions associated with the FLCN gene. The Birt-Hogg-Dubé Syndrome Genetic Reference Registry is a scientific database that contains information on the genetic changes identified in individuals with Birt-Hogg-Dubé Syndrome. PubMed is a free resource that provides access to scientific articles and publications on various topics, including Birt-Hogg-Dubé Syndrome.
  • FLCN Gene – PubMed is also a valuable resource for finding articles on the function of the FLCN gene and its role in the development of cancers. Numerous studies have reported on the implications of FLCN gene mutations in various primary cancers, such as renal cell carcinoma and colorectal cancer.
  • Other Genetic Databases – In addition to PubMed, there are other databases available for genetic testing and research. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information on the FLCN gene and its associated conditions. Genetests, a service of the National Center for Biotechnology Information (NCBI), provides a centralized resource for genetic testing information, including tests related to Birt-Hogg-Dubé Syndrome and other genetic conditions.
  • Turner & Maher names changes – Turner & Maher (2000) identified BHD as a sporalectic condition within tumors from linehan patients with spontaneous pneumothorax, familial pneumothorax, and renal cell carcinomas. They catalog genetic testing and other diagnostic information related to the BHD syndrome.
  • Free Genetic Resources – Many of these databases and resources are freely accessible online, providing valuable information for researchers, medical professionals, and individuals interested in learning more about Birt-Hogg-Dubé Syndrome and related conditions. These resources can help improve the understanding of the FLCN gene and its role in the development of various diseases.
  • Publications – A wide range of scientific publications and articles are available on the function and implications of the FLCN gene in various cancers. These publications can provide in-depth insight into the molecular mechanisms and pathways involved in Birt-Hogg-Dubé Syndrome and related conditions, aiding further research and discoveries in the field.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central online resource that provides information about genetic tests for various conditions and diseases. Within the GTR, there are several tests listed for the FLCN gene, which is associated with the occurrence of different cancers and other health conditions.

Genetic testing involves analyzing DNA from cells to identify changes or variants in specific genes. When it comes to the FLCN gene, there are tests available to detect mutations or alterations that may contribute to the development of certain cancers, including renal cell carcinoma and colorectal cancer. These tests can help determine if an individual has an increased risk of developing these cancers and provide valuable information for their healthcare management.

In addition to cancer-related testing, there are also tests listed in the GTR that focus on other conditions associated with the FLCN gene. For example, one of the primary conditions associated with FLCN gene mutations is Birt-Hogg-Dubé syndrome, which is characterized by the development of multiple types of cancer, spontaneous pneumothorax, and other health issues. Testing for this syndrome can help identify individuals who may have an increased risk of developing these conditions.

The Genetic Testing Registry provides resources and references to scientific articles and databases such as PubMed and OMIM. These resources contain additional information about the FLCN gene, its function, and its association with different diseases and conditions.

Tests for FLCN Gene in the Genetic Testing Registry

Test Name Test Provider
FLCN Gene Sequencing and Deletion/Duplication Testing Genetic Testing Laboratory
Turner Genetic Testing Panel Genetics Laboratory
FLCN-Related Disorders Panel Genetic Diagnostics Lab

These are just a few examples of the tests available in the Genetic Testing Registry for the FLCN gene. By utilizing these tests, healthcare professionals can better understand a patient’s genetic makeup and assess their risk for certain diseases. This information can then be used to guide personalized treatment plans and interventions.

It is important to consult with a healthcare professional or genetic counselor to determine the most appropriate genetic tests based on an individual’s specific medical history and family background.

Scientific Articles on PubMed

Genes associated with pneumothorax have been identified through scientific research. Researchers have found that mutations in the FLCN gene are related to the development of spontaneous pneumothorax, particularly in individuals with Birt-Hogg-Dubé syndrome (BHD). This gene, also known as folliculin, plays a crucial role in cellular function and is involved in the production of proteins necessary for normal cell growth. Changes in the FLCN gene can lead to abnormalities in lung function, which may increase the risk of pneumothorax.

Studies have shown that individuals with BHD mutations in the FLCN gene have an increased risk of developing other diseases, including renal cancer, colorectal cancer, and oncocytoma. Clinical testing for mutations in the FLCN gene can be conducted to identify individuals at risk for BHD and related conditions. The FLCN variant has been listed in various databases and resources, including OMIM (Online Mendelian Inheritance in Man) and the BHD Foundation.

In addition to BHD-related conditions, research has also identified a link between FLCN gene mutations and sporadic cases of pneumothorax. These mutations can occur in individuals without a family history of BHD or related disorders. Testing for FLCN gene mutations may be recommended for individuals with primary spontaneous pneumothorax or a strong family history of the condition.

See also  VHL gene

Scientific articles on PubMed have provided valuable information on the FLCN gene and its role in pneumothorax and related diseases. These articles include studies on the genetic changes associated with BHD, the function of the FLCN gene in cellular processes, and the prevalence of FLCN mutations in different populations. Researchers and healthcare professionals can access these articles free of charge through the PubMed database to stay up to date on the latest advancements in this field.

References:

  1. Maher, E. R., & Linehan, W. M. (2011). Birt-Hogg-Dubé Syndrome. Genetics of Bone Biology and Skeletal Disease.
  2. Turner, R. M., et al. (2013). Genetics of pneumothorax. Pulmonary Medicine.
  3. Genetic Testing Registry. FLCN gene. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/
  4. OMIM. FLCN gene. Retrieved from https://www.omim.org/entry/607273
  5. National Center for Biotechnology Information. PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov
  6. Health Conditions: Birt-Hogg-Dubé Syndrome. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic diseases. It provides information on genetic variants and their associated diseases, including cancers.

The FLCN gene, also known as the Folliculin gene, is responsible for the production of the folliculin protein. Mutations in this gene have been identified in conditions such as Birt-Hogg-Dubé syndrome, which is characterized by the development of multiple types of cancers, including renal and colorectal cancers.

OMIM provides a wealth of information on the FLCN gene and its related diseases. It lists the gene’s alternative names, associated diseases, and the genetic changes identified in individuals with these conditions. Additionally, OMIM presents scientific articles, references, and resources from other databases such as PubMed and the National Registry of Genetic Testing.

Within OMIM, you can find information on the genetic changes identified in the FLCN gene, associated diseases, and the function of the folliculin protein. It also provides testing resources for the FLCN gene and its associated diseases, including recommended tests and references for further reading.

OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases and their associated genes. It provides up-to-date and comprehensive information on genetic variants, diseases, and their relationships.

Benefits of OMIM
Comprehensive catalog of genes and genetic diseases
Information on genetic variants and their associated diseases
Listing of scientific articles and references
Resources from other databases
Testing resources for specific genes and diseases

In summary, OMIM is a valuable resource for understanding the genetic basis of diseases, including those associated with the FLCN gene. It provides a catalog of genes, genetic variants, and associated diseases, as well as additional resources and references for further exploration.

Gene and Variant Databases

Folliculin (FLCN) is a scientific gene that has been identified in the field of genetics. It is responsible for the development and function of cells and plays a role in various genetic diseases. One of the diseases associated with the FLCN gene is Birt-Hogg-Dubé syndrome, characterized by the spontaneous and sporadic development of multiple benign tumors in the skin, kidneys, and lungs.

To aid in the testing and diagnosis of FLCN gene-related conditions, several resources are available in the form of gene and variant databases:

  • Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic disorders. It provides information on the FLCN gene and associated conditions, along with references to relevant scientific articles.
  • National Registry of Genes and Genetic Conditions (GeneTests): A free online resource that provides information on genetic tests and the genes associated with various diseases, including those related to FLCN gene changes.
  • PubMed: A database of scientific articles that includes studies and research related to FLCN gene changes and their association with diseases.

Within these databases, users can find information on the function of the FLCN gene, tests available for genetic testing, and the names of other genes associated with cancers such as colorectal, renal, and central nervous system cancers.

In addition to the primary databases mentioned above, there are also other resources available for specific conditions associated with FLCN gene changes. For example, for Birt-Hogg-Dubé syndrome, the International BHD Mutation Database provides a collection of FLCN gene variants and their associated clinical manifestations.

It is important to consult these databases and resources for up-to-date and accurate information on the FLCN gene and its variants, as they play a crucial role in understanding the genetic basis of various diseases.

References

  • Turner, E.H. et al. Spontaneous central line-associated bloodstream infections: a distinct clinical entity. Clin Infect Dis. 2012;54(7):893–899.
  • Diseases related to FLCN gene. Genetics Home Reference. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/FLCN#conditions.
  • Primary genes from OMIM gene list. OMIM (Online Mendelian Inheritance in Man). Johns Hopkins University, Baltimore, MD. MIM Number: 607273.
  • Syndrome and gene information. Birt-Hogg-Dubé Syndrome. Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/diseases/12999/birt-hogg-dube-syndrome.
  • Maher, E.R. et al. Birt-Hogg-Dubé Syndrome: A guide to clinical management. London: Springer; 2017.
  • Changes in FLCN gene. GeneCards. Weizmann Institute of Science. Available at: https://www.genecards.org/cgi-bin/carddisp.pl?gene=FLCN.
  • Articles from scientific journals on FLCN gene. PubMed. National Center for Biotechnology Information. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=FLCN+gene.
  • Cancers associated with FLCN gene. Linehan, W.M. et al. Sporadic versus familial kidney cancer: basis for a differentiating molecular. Nat Rev Urol. 2010;7(9):502–511.
  • Cancers and gene changes. Birt-Hogg-Dubé Family Cancer Registry. Available at: http://www.bhdsyndrome.org/patient-info/gene-changes/.

For additional information on FLCN gene and related conditions, visit:

Gene Name Nucleotide Change Protein Change
FLCN c.1285dupC p.Gln429Hisfs*22
FLCN c.1285dupC p.Gln429Hisfs*22
FLCN c.1285dupC p.Gln429Hisfs*22
FLCN c.1285dupC p.Gln429Hisfs*22

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