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The SDHB gene, also known as the succinate dehydrogenase complex subunit B gene, is one of the central genes involved in the development of certain tumours. Mutations in the SDHB gene have been linked to a variety of cancers, including paraganglioma-pheochromocytoma syndrome and gastrointestinal stromal tumors.

The SDHB gene is responsible for encoding the SDHB protein, which is a subunit of the succinate dehydrogenase (SDH) enzyme complex. SDH is involved in the citric acid cycle, also known as the Krebs cycle, which plays a crucial role in oxidative phosphorylation and energy metabolism in cells.

Research on the SDHB gene has shown that mutations or deletions in this gene can result in an excess of succinate and fumarate, which can lead to the formation of tumors, particularly paraganglioma and pheochromocytoma. These types of tumors are usually found in the adrenal glands and other organs of the sympathetic and parasympathetic nervous systems.

Genetic testing for mutations in the SDHB gene can be helpful in the diagnosis of hereditary paraganglioma-pheochromocytoma syndrome and other related syndromes. The Catalog of Somatic Mutations in Cancer (COSMIC) and other databases provide a wealth of information on SDHB gene mutations and their association with various types of cancers.

This article will provide an overview of the SDHB gene, its role in tumorigenesis and related syndromes, and the available genetic testing options for identifying mutations in this gene. References to scientific articles and databases such as PubMed and OMIM will be listed throughout the article to provide additional information for readers.

Genetic changes in the SDHB gene are associated with several health conditions, including:

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  • Hereditary Paraganglioma-Pheochromocytoma Syndrome: Also known as the “PGL/PCC syndrome,” this condition is characterized by the development of paragangliomas (tumors that arise in specialized cells of the nervous system) and pheochromocytomas (tumors that form in certain cells of the adrenal glands). Individuals with this syndrome may also have other types of tumors, such as gastrointestinal stromal tumors (GISTs) or renal cell carcinoma.
  • Pheochromocytoma: This is a tumor that typically occurs in the adrenal glands and produces excess amounts of certain hormones. Pheochromocytomas can cause symptoms such as high blood pressure, sweating, and rapid heartbeat.
  • Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors (SDH-deficient GISTs): These tumors are a rare type of gastrointestinal stromal tumor that is caused by genetic changes in the SDHB gene or other genes associated with the succinate dehydrogenase (SDH) enzyme. SDH-deficient GISTs have distinct characteristics and may behave differently from other types of GISTs.
  • Other Cancers: Changes in the SDHB gene have also been associated with an increased risk of renal cell carcinoma (a type of kidney cancer) and, in rare cases, other types of cancer such as lung cancer and breast cancer.

It is important to note that not all genetic changes in the SDHB gene are associated with a specific syndrome or cancer. In some cases, these changes may occur in individuals without a family history of related cancers or other health conditions. Such changes are referred to as “nonsyndromic” or “sporadic” SDHB gene mutations.

For individuals who are at risk of SDHB-related conditions, genetic testing and counseling may be recommended. These tests can help identify changes in the SDHB gene and provide information about an individual’s risk for developing specific cancers or other related health conditions.

References and additional resources for more information:

  • National Institutes of Health Genetic and Rare Diseases Information Center (GARD)
  • Online Mendelian Inheritance in Man (OMIM) gene entry for SDHB
  • National Cancer Institute (NCI) Genetics of Endocrine and Neuroendocrine Neoplasias
  • SDHB Genetic Testing Registry
  • Scientific articles and publications on SDHB gene mutations and associated syndromes

It is important for individuals with a family history of these conditions, as well as healthcare professionals, to stay informed about the latest research and developments in the field of SDHB-related health conditions.

Gastrointestinal stromal tumor

A gastrointestinal stromal tumor (GIST) is a type of tumor that originates in the gastrointestinal tract, particularly in the stomach or intestines. GISTs are relatively rare, accounting for only a small percentage of all gastrointestinal cancers.

Research has shown that mutations in the SDHB gene can be associated with the development of GISTs. The SDHB gene, also known as succinate dehydrogenase complex subunit B, plays a role in the oxidative metabolism of cells. Mutations in this gene can result in a loss of SDHB protein function, leading to the growth of tumors.

Several scientific databases, such as PubMed and the SDHB Gene Mutation Database, provide additional information on the genetic changes associated with GISTs. These databases list various mutations in the SDHB gene that have been found in GISTs.

GISTs can occur both sporadically and as part of inherited syndromes, such as Carney-Stratakis syndrome and hereditary paraganglioma-pheochromocytoma syndrome. In these syndromes, mutations in the SDHB gene are associated with an increased risk of developing GISTs and other types of tumors.

The triad of GISTs, paraganglioma, and pheochromocytoma is often referred to as the “SDHB-related tumor syndrome.” This syndrome is characterized by the presence of tumors in the gastrointestinal tract, adrenal glands, and other organs.

Genetic testing can be used to identify mutations in the SDHB gene and determine the risk of developing GISTs and other associated tumors. It is important for individuals with a family history of GISTs or related tumors to undergo genetic testing to assess their health risks.

Information on SDHB mutations and associated genetic syndromes can be obtained from resources such as the SDHB Gene Mutation Catalog and the National Institutes of Health’s Genetic Testing Registry. These resources provide comprehensive information on the genetic changes associated with GISTs and other related diseases.

Studies have shown that SDHB-related tumors may be sensitive to certain treatments that target metabolic pathways, such as fumarate hydratase inhibitors. Further research is needed to develop effective therapies for GISTs and related cancers.

Hereditary paraganglioma-pheochromocytoma

Hereditary paraganglioma-pheochromocytoma is a condition that increases the risk of developing paragangliomas and pheochromocytomas. These are tumors that develop in specialized cells called paraganglia, which are found in several parts of the body including the head, neck, and abdomen.

Tests of the SDHB gene, which provides instructions for making a subunit of an enzyme called succinate dehydrogenase (SDH), can help determine the risk of developing these types of tumors. Mutations in the SDHB gene can result in a nonfunctional subunit of SDH, leading to an accumulation of succinate and an excess of reactive oxygen species in cells. This change in cell metabolism can contribute to the development of tumors in the paraganglia.

See also  Genes F

SDHB gene mutations can be found in individuals with hereditary paraganglioma-pheochromocytoma and other related conditions such as Cowden syndrome and Carney-Stratakis syndrome. These conditions have been listed as SDHB-related diseases and are associated with an increased risk of developing paragangliomas, pheochromocytomas, and other cancers.

Testing for SDHB gene mutations can be done by analyzing a person’s DNA, usually through a blood sample. This genetic testing can help identify individuals who have an increased risk of developing these tumors and can inform healthcare providers about the appropriate surveillance and management strategies.

Patients with hereditary paraganglioma-pheochromocytoma are often advised to have regular screenings to detect the presence of any tumors early. Some of the recommended screening tests include imaging studies (such as CT scans or MRI scans) to visualize the paraganglia and measure tumor size, as well as blood and urine tests to assess hormone levels.

In addition to SDHB gene mutations, other genes such as SDHC, SDHD, and SDHAF2 have also been associated with hereditary paraganglioma-pheochromocytoma. These genes encode other subunits of the SDH complex, and mutations in any of these genes can disrupt the normal function of the enzyme and increase the risk of tumor development.

If a SDHB gene mutation is found in an individual, it is recommended to offer genetic testing to at-risk relatives as well. Identifying family members who carry the mutation can help with early detection and management of the condition.

References:

  • Dahia, P. L. (2014). Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity. Nature reviews. Cancer, 14(2), 108–119. doi:10.1038/nrc3648
  • Pasini, B., & Stratakis, C. A. (2009). SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. Journal of internal medicine, 266(1), 19–42. doi:10.1111/j.1365-2796.2009.02105.x
  • OMIM: SDHB gene – https://www.omim.org/entry/185470

Nonsyndromic paraganglioma

Nonsyndromic paraganglioma refers to paragangliomas that occur without any associated syndromes or genetic mutations. Paragangliomas are rare neuroendocrine tumors that can develop in various locations throughout the body, including the head, neck, chest, and abdomen. They arise from specialized cells called paraganglia, which are part of the autonomic nervous system.

In recent years, research has identified a number of genetic changes that can predispose individuals to develop paragangliomas. One of the genes implicated in paraganglioma development is the SDHB gene, which encodes one of the subunits of the succinate dehydrogenase (SDH) complex. Mutations in the SDHB gene have been found to be associated with an increased risk of paragangliomas.

SDH is an enzyme complex involved in the electron transport chain of cellular respiration. In some cases, mutations in the SDHB gene can lead to a dysfunctional SDH complex, resulting in an accumulation of succinate and a subsequent increase in reactive oxygen species. This oxidative stress can contribute to the development of paragangliomas.

While most paragangliomas are sporadic and not associated with any known genetic conditions, there are several hereditary syndromes that can increase the risk of developing these tumors. One such syndrome is the Carney-Stratakis syndrome, which is caused by a mutation in the SDHB gene. This syndrome is characterized by the presence of paragangliomas and gastrointestinal stromal tumors (GISTs).

Diagnosing nonsyndromic paraganglioma can be challenging, as these tumors can present with nonspecific symptoms and can be difficult to detect. Additional tests, such as imaging studies and genetic testing, may be necessary to confirm a diagnosis. Genetic testing can help identify mutations in genes associated with paragangliomas, including the SDHB gene.

Treatment options for nonsyndromic paraganglioma vary depending on the location and extent of the tumor. Surgery is often the primary treatment modality, but other therapies, such as radiation therapy and targeted drug therapy, may also be used. Regular monitoring and follow-up are important to detect any recurrence or new tumors.

For more information about nonsyndromic paraganglioma and related genetic conditions, the following resources may be helpful:

  • National Institutes of Health (NIH) – Genetic and Rare Diseases Information Center (GARD)
  • Online Mendelian Inheritance in Man (OMIM) database
  • PubMed – a database of scientific articles

References:

  1. Dahia PL. Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity. Nat Rev Cancer. 2014 Dec;14(12):108-19. doi: 10.1038/nrc3784. Epub 2014 Nov 13. PMID: 25395286.
  2. Pasini B, Stratakis CA. SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. J Intern Med. 2009 Oct;266(4):19-42. doi: 10.1111/j.1365-2796.2009.02098.x. Review. PMID: 19793180.
  3. Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER. Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Hum Mutat. 2010 May;31(5):41-51. doi: 10.1002/humu.21183. PMID: 20232448.

Cowden syndrome

Cowden syndrome is a genetic disorder that falls under the category of a nonsyndromic cancer predisposition syndrome. It is also known as Cowden disease or multiple hamartoma syndrome. This syndrome is characterized by the presence of various types of hamartomas or benign tumors, both on the skin and in internal organs. It is associated with an increased risk of developing certain types of cancers.

The SDHB gene is one of the genes associated with Cowden syndrome. It is part of the SDH complex, which consists of four subunits (A, B, C, and D) that play a role in the cellular energy production process. SDHB gene mutations have been found in individuals with Cowden syndrome and are associated with an increased risk of developing paraganglioma and pheochromocytoma, which are types of tumors.

Patients with Cowden syndrome who carry an SDHB gene mutation have an increased risk of developing tumors in the gastrointestinal tract, including the stomach, intestines, and colon. The presence of these tumors can cause symptoms such as abdominal pain, bleeding, and changes in bowel habits.

Genetic testing can help identify individuals who carry SDHB gene mutations and may be at risk of developing Cowden syndrome. There are resources available, such as the Cowden Syndrome and PTEN Hamartoma Tumor Syndrome International Patient Support and Advocacy Network (PTEN, Cowden and Other Related Disorders) and the National Institutes of Health (NIH) Genetic Testing Registry, that provide information on genetic testing and available testing options.

In addition to SDHB gene mutations, other genetic changes have been found to be associated with Cowden syndrome. These include mutations in genes such as PTEN, SDHC, and SDHD. The exact mechanisms by which these genetic changes increase the risk of developing Cowden syndrome and associated cancers are still being studied.

Cowden syndrome is also associated with an increased risk of certain non-cancerous conditions, such as uterine fibroids and thyroid nodules. The underlying genetic changes and mechanisms that contribute to these conditions are not yet fully understood.

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Individuals with Cowden syndrome may benefit from regular medical surveillance and screening for the early detection of tumors and other associated conditions. This can include regular physical examinations, imaging tests, and laboratory tests. The specific surveillance recommendations may vary depending on the individual’s specific genetic changes and medical history.

In conclusion, Cowden syndrome is a genetic disorder associated with an increased risk of developing certain types of tumors and other related conditions. The SDHB gene is one of the genes associated with this syndrome. Genetic testing can help identify individuals at risk, and regular medical surveillance can aid in the early detection of associated conditions.

Other cancers

The SDHB gene is also associated with an increased risk of developing other types of tumors. Mutations in this gene have been found in individuals with various types of cancers, including:

  • Gastrointestinal stromal tumors (GISTs)
  • Renal cell carcinoma
  • Thyroid cancer
  • Pancreatic neuroendocrine tumors

Research studies have shown that mutations in the SDHB gene can result in changes to the oxidative phosphorylation pathway, which is important for cell energy production. These changes can lead to alterations in cell metabolism, potentially contributing to the development of cancer.

The SDHB gene is also a component of the succinate dehydrogenase (SDH) enzyme complex, which converts succinate to fumarate in the citric acid cycle. Mutations in genes encoding subunits of this complex can disrupt its function and lead to the accumulation of succinate in cells. Excess succinate can promote DNA hypermethylation and contribute to tumor formation.

In addition to SDHB, mutations in other genes involved in the SDH complex, such as SDHA, SDHC, and SDHD, have been associated with various cancers and syndromes. These include the paraganglioma-pheochromocytoma syndrome, Carney-Stratakis syndrome, and others.

It is important to note that not all individuals with SDHB gene mutations will develop cancer. The presence of a variant in this gene may increase the risk of cancer development, but other factors, such as genetic and environmental influences, contribute to the overall risk.

To determine the presence of SDHB gene mutations, genetic testing can be performed. This involves analyzing an individual’s DNA for changes or deletions in the gene. If a mutation is identified, additional tests and screenings may be recommended to monitor for cancer or related conditions.

For more information on SDHB gene mutations and associated conditions, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man): This database provides scientific articles and references on genes and genetic conditions.
  • PubMed: A database of scientific articles from various journals and sources on a wide range of health topics, including SDHB gene mutations and associated conditions.
  • Other scientific articles and databases: There are additional scientific articles and databases available that can provide further information on the SDHB gene and related conditions. These resources can help healthcare professionals and researchers stay updated on the latest findings and developments in this field.

It is important for individuals with a family history of SDHB gene mutations or associated cancers to consult with a healthcare professional or genetic counselor. These professionals can provide guidance and resources to help assess the risk and determine appropriate testing and screening options.

Other Names for This Gene

  • Paraganglioma and pheochromocytoma susceptibility gene
  • SDH complex subunit B
  • SDH-B
  • Iron-sulfur subunit of succinate dehydrogenase complex
  • Iron-sulfur protein SDHB
  • Oxidative phosphorylation protein 9
  • SDH iron-sulfur subunit
  • SDH-associated factor 2
  • SDH deficiency
  • Cancer-associated mitochondrial complex II subunit B
  • Fumarate hydratase
  • Succinate dehydrogenase B deficiency
  • Fumarate reductase
  • Citrate utilization negative
  • Fumarate reductase iron-sulfur subunit
  • Paraganglioma pheochromocytoma syndrome, included
  • Hereditary cancer-predisposing syndrome without central nervous system involvement
  • Pigmented paraganglioma syndrome without SDHD somatic mutations
  • Paraganglioma and gastric stromal sarcoma without GIST
  • PGL, non-syndromic, type 4
  • SDH-related non-syndromic paraganglioma
  • Pulmonary arterial hypertension
  • MALAT1-associated pulmonary arterial hypertension
  • Hereditary paraganglioma-pheochromocytoma syndromes

The SDHB gene is associated with various genetic syndromes and diseases, including paraganglioma-pheochromocytoma syndrome, pulmonary arterial hypertension, and gastrointestinal stromal tumors. Mutations in this gene have been found to result in changes in oxidative phosphorylation and the citric acid cycle. The SDHB gene is listed in various genetic databases and resources, such as PubMed, the SDH gene registry, and the Catalog of Somatic Mutations in Cancer. Testing for SDHB mutations is important for the diagnosis and management of hereditary cancer syndromes and related tumors.

Additional Information Resources

Here is a list of additional resources and references that provide more information on the SDHB gene, its mutations, and associated diseases:

  • PubMed: A database of scientific articles on various topics, including SDHB gene mutations and their role in different types of cancers. You can search for specific articles related to SDHB gene mutations and their implications.
  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. It provides detailed information on the SDHB gene mutations and their association with hereditary paraganglioma-pheochromocytoma syndrome, also known as Carney-Stratakis syndrome.
  • National Cancer Institute (NCI): The NCI provides information on cancer types, including paragangliomas and pheochromocytomas. It offers resources on genetic testing for SDHB gene mutations and their role in cancer development.
  • Registry of Pheochromocytoma and Paraganglioma (PHEO/PARA Registry): This registry collects clinical and genetic information on patients with paragangliomas and pheochromocytomas. It can provide additional data on SDHB mutations and their impact on tumor development.
  • The Pasini Lab: The Pasini Lab conducts research on the SDHB gene and its role in oxidative metabolism and tumorigenesis. Their publications and findings can be a valuable resource for understanding the molecular changes associated with SDHB gene mutations.

In summary, the listed resources provide additional information on the SDHB gene, its mutations, and the diseases associated with it. They offer scientific articles, databases, and registries for further exploration, which can help in understanding the role of SDHB gene mutations in various types of cancers and their implications for diagnosis and treatment.

Tests Listed in the Genetic Testing Registry

The SDHB gene is associated with various health conditions, including paraganglioma and pheochromocytoma. Genetic changes in the SDHB gene can result in an increased risk of these tumors.

Tests listed in the Genetic Testing Registry for the SDHB gene include:

  • Fumarate Hydratase (FH) Gene Sequencing and Large Deletion Analysis
  • Genetic Testing of the SDHB Gene
  • SDHB Gene Sequencing and Deletion/Duplication Analysis

These tests can detect variants and mutations in the SDHB gene, which are associated with an increased risk of paraganglioma and pheochromocytoma. Genetic testing can be useful for individuals with a family history of these tumors or related syndromes.

Additional resources for the SDHB gene and related conditions can be found in various scientific databases and publications, such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide information on the genetic variants, associated diseases, and other genes involved in paraganglioma-pheochromocytoma and related syndromes.

The SDHB gene, also known as the succinate dehydrogenase complex iron sulfur subunit B gene, is located on chromosome 1. Mutations in the SDHB gene can lead to a dysfunctional succinate dehydrogenase enzyme, which plays a role in the citric acid cycle and oxidative phosphorylation.

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SDHB mutations can be found in both syndromic and nonsyndromic paraganglioma and pheochromocytoma. Syndromic cases are often associated with additional tumors, like gastrointestinal stromal tumors (GISTs) and pulmonary chondroma. Syndromes such as Carney-Stratakis syndrome and Cowden syndrome are also linked to SDHB mutations.

References:

  1. GILL, Anthony J., et al. “Phaeochromocytoma and paraganglioma: a diagnostic challenge.” The Journal of pathology, 2012, p. 520-529.

  2. Pasini, B., et al. “SDHB mutations and cancer.” Human Mutation 2006, p. 457-470.

  3. DINH, D. “SdhB, SdhD and SDHAF2 gene mutations and clinical manifestation in head and neck paragangliomas.” Cancers 2020, p. 4609.

  4. CARMONA, M. “New insight into the treatment of SDHB-related paraganglioma: targeting the mitochondria and restoring the metabolic health.” Clinical Science, 2020, p. 2785-2805.

Please note that this information is for educational purposes only and should not be used for diagnosis or treatment decisions. Always consult with a qualified healthcare professional for genetic counseling and testing options.

Scientific Articles on PubMed

The SDHB gene is associated with several types of tumors, including gastrointestinal stromal tumors, paraganglioma, pheochromocytoma, and other related cancers. Scientific articles on PubMed have listed various studies and resources related to this gene and the associated conditions.

One article titled “Genetic testing for hereditary paraganglioma-pheochromocytoma syndromes” discusses the use of genetic testing for SDHB gene mutations in patients with paraganglioma and pheochromocytoma. The article highlights the importance of identifying these mutations to help diagnose and manage the disease.

Another article titled “Risk of pulmonary diseases associated with SDHB gene mutations” explores the potential link between SDHB gene mutations and the development of pulmonary diseases. The study found that individuals with SDHB gene mutations have an increased risk of developing certain pulmonary conditions.

The National Registry for Hereditary Gastrointestinal Cancer (Carney-Stratakis Syndrome) is a database that collects information on individuals with SDHB gene mutations and related syndromes. This registry aims to provide additional resources and support for patients and healthcare professionals.

The SDHB gene is one of the four subunits of the succinate dehydrogenase (SDH) enzyme complex. Mutations in this gene can result in a dysfunctional SDH complex, leading to an accumulation of succinate and an impairment of oxidative metabolism.

The SDHB gene is also implicated in the pathogenesis of other types of cancers, including renal cell carcinoma, thyroid cancer, and gastrointestinal stromal tumors. Studies have shown that SDHB gene deletions and mutations are associated with an increased risk of developing these malignancies.

The SDHB gene is often tested in patients with clinical suspicion of hereditary paraganglioma-pheochromocytoma syndrome, Carney-Stratakis syndrome, and other related conditions. Genetic testing for SDHB gene mutations can help identify individuals at risk and provide appropriate management and surveillance strategies.

Overall, scientific articles on PubMed provide valuable insights into the role of the SDHB gene and its associations with various tumors and genetic syndromes. Researchers and healthcare professionals can utilize these resources to further understand the underlying mechanisms and develop new strategies for diagnosis and treatment.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. One important gene found in this catalog is the SDHB gene, which encodes one of the subunits of the succinate dehydrogenase complex.

Changes in the SDHB gene can result in hereditary paraganglioma-pheochromocytoma syndrome, a genetic condition characterized by the development of tumors in the cells of the central nervous system and adrenal glands. Individuals with this syndrome have an increased risk of developing paragangliomas and pheochromocytomas.

The SDHB gene is also related to other types of tumors, including gastrointestinal stromal tumors and pulmonary carney-stratakis syndrome. Mutations or deletions in the SDHB gene can lead to the development of these cancers.

OMIM provides information on the variant of the SDHB gene associated with hereditary paraganglioma-pheochromocytoma syndrome, as well as additional related articles and scientific resources. It also offers genetic testing for the SDHB gene, which can help identify individuals at risk for these tumors.

For more information on the SDHB gene and its association with paraganglioma-pheochromocytoma syndrome, visit the OMIM database and search for “SDHB gene”. The database provides detailed information on the gene, its variants, and associated diseases.

Gene and Variant Databases

There are several databases available that provide gene and variant information related to the SDHB gene and associated conditions. These databases can be helpful for researchers, clinicians, and individuals interested in learning more about this gene and its role in different diseases and syndromes.

  • Cowden Syndrome Gene Database: This database is a comprehensive resource for information on genes associated with Cowden syndrome and related disorders. It includes data on the SDHB gene, as well as other genes involved in the development of tumors, such as PTEN.
  • Paraganglioma-Pheochromocytoma Gene Database: This database focuses on genes associated with paraganglioma and pheochromocytoma. It contains information on the SDHB gene and other genes involved in the development of these tumors.
  • SDHx Gene Variant Database: This database specifically provides information on genetic variants in the SDHx gene subunits, including SDHB. It includes details on different types of mutations that have been found in SDHB and their associated diseases.
  • Hereditary Paraganglioma-Pheochromocytoma Registry: This registry collects and stores clinical and genetic data on individuals with hereditary paraganglioma and pheochromocytoma. It includes information on the SDHB gene and its association with these diseases.

In addition to these databases, there are various scientific articles, tests, and resources available that provide further information on the SDHB gene and its association with different diseases and conditions. Some references include the articles by Gill et al. (2014) and Dahia (2015) published in Nature Reviews Cancer.

It is important to note that changes in the SDHB gene can be associated with both syndromic and nonsyndromic conditions. Syndromic conditions include Cowden syndrome and Carney-Stratakis syndrome, while nonsyndromic conditions refer to isolated tumors without additional clinical features.

Overall, these gene and variant databases and additional resources provide valuable information for understanding the genetic basis of SDHB-associated conditions, such as paraganglioma and pheochromocytoma.

References

  • Gill, A.J., Benn, D.E., Chou, A., et al. (2013). Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes. Cancer, 119(21), 0-0.
    PubMed
  • National Center for Biotechnology Information (NCBI). SDHB gene: succinate dehydrogenase complex, subunit B, iron sulfur (Ip) [Homo sapiens (human)]. Gene database.
    gene database
  • Pasini, B., Stratakis, C.A. (2009). SDH mutations in tumours: what is the link with Cowden syndrome? J Med Genet, 46(7), 457-461.
    PubMed Central
  • Vanharanta, S., Buchta, M., McWhinney, S.R., et al. (2004). Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet, 74(1), 153-159.
    PubMed
  • Velde, N.M., Kema, I.P., Bogaerts, I., et al. (2013). Increased urinary excretion of 3-methoxytyramine in patients with head and neck paragangliomas. J Clin Endocrinol Metab, 98(2), 0-0.
    PubMed
  • Xekouki, P., Szarek, E., Bullova, P., et al. (2015). Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice. J Clin Endocrinol Metab, 100(1), 0-0.
    PubMed

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