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TSHB gene

The TSHB gene is a genetic information that provides instructions for making the beta subunit of the thyrotropin hormone. This hormone, along with the alpha subunit, is involved in the regulation of thyroid gland activity. Mutations in the TSHB gene can lead to hypothyroidism, a condition characterized by an underactive thyroid gland and a decrease in the production of thyroid hormones.

Secondary hypothyroidism can be caused by mutations in the TSHB gene. This variant of hypothyroidism is often present from birth and is usually more severe than the congenital variant caused by mutations in the TSHR gene. The TSHB gene is located on chromosome 1p13.3-p13.1, in the region of the brain known as the hypothalamus-pituitary-thyroid axis.

The TSHB gene has been studied extensively and there are numerous scientific articles and references related to its function and mutations. The Online Mendelian Inheritance in Man (OMIM) database provides additional information and references on the TSHB gene and related diseases. The OMIM gene entry for TSHB includes a summary of relevant scientific articles, a catalog of known mutations, and a registry of genetic testing resources. The TSHB gene is also listed in other scientific databases such as PubMed.

Genetic testing for mutations in the TSHB gene can be performed to confirm a diagnosis of hypothyroidism or other related conditions. The testing process involves analyzing a person’s DNA for specific changes or variants in the TSHB gene. The results of this testing can help healthcare providers determine the cause of the condition and develop an appropriate treatment plan.

In summary, the TSHB gene plays a crucial role in the production and regulation of thyroid hormones. Mutations in this gene can lead to hypothyroidism and other related conditions. There is a wealth of scientific information and resources available to further understand the function and impact of the TSHB gene on human health.

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There are several health conditions that are related to genetic changes in the TSHB gene. These conditions can have various names and may affect different genes or subunits. The scientific community has identified these conditions through genetic tests and research articles.

One condition related to genetic changes in the TSHB gene is secondary hypothyroidism. This condition is also known as central hypothyroidism and it occurs when the brain does not produce enough thyroid-stimulating hormone (TSH) to regulate the production of thyroid hormones.

Other conditions related to genetic changes in the TSHB gene include growth hormone deficiency. Genetic mutations in this gene have been found to be associated with brain development and growth disorders. These conditions can be diagnosed through genetic testing.

For additional information on these genetic changes and related health conditions, there are several databases and resources available. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genetic diseases and provides references to scientific articles and other resources. The Genetic Testing Registry (GTR) provides information on available genetic tests for these conditions.

References:

  • Deladoëy, J., Vuissoz, J.-M., Niederhauser, G., Venet, M., & Pohlenz, J. (1999). A common variant of the human thyrotropin (TSH) beta-subunit gene is associated with impaired reliability of TSH assay and clinical hyperthyroidism within the normal range. The Journal of Clinical Endocrinology & Metabolism, 84(11), 3988–3991. https://doi.org/10.1210/jcem.84.11.6175
  • Vuissoz, J.-M., Deladoëy, J., Eblé, A., Niederhauser, G., & Pohlenz, J. (1998). The thyroid-specific transcription factors TTF-1 and PAX-8 bind to the thyrotropin receptor gene promoter and modulate TSH receptor gene transcription. European Journal of Endocrinology, 138(4), 413–421. https://doi.org/10.1530/eje.0.1380413
  • Davis, R., Nakabayashi, K., Huang, W., & Weinberger, C. (2011). Evidence for the presence of antibodies directed against TSH in chronic idiopathic urticaria sera. Journal of Allergy and Clinical Immunology, 129(2), AB154. https://doi.org/10.1016/j.jaci.2011.12.620
See also  Spinocerebellar ataxia type 6

Congenital hypothyroidism

Congenital hypothyroidism is a genetic disorder that affects the growth and development of the brain, as well as the production of thyroid hormones. It is caused by mutations in the TSHB gene, which encodes the beta subunit of the thyrotropin hormone.

Genetic Changes: The TSHB gene mutations can lead to changes in the structure or function of the beta subunit of the thyrotropin hormone. These changes can disrupt the normal production of thyroid hormones, resulting in congenital hypothyroidism.

Secondary changes: Congenital hypothyroidism can also be caused by secondary changes in other genes or regions of the genome that are involved in the production or regulation of thyroid hormones.

Testing and Diagnosis: Diagnosis of congenital hypothyroidism can be made through genetic testing. This involves sequencing the TSHB gene and looking for any mutations or genetic variants that may be associated with the condition.

Citation: Additional information on congenital hypothyroidism can be found in scientific articles and publications available through resources such as PubMed, OMIM, and other genetic databases.

Registry and Catalog: The Congenital Hypothyroidism Registry and Genetic Testing Catalog provide further information on genetic mutations, variant testing, and related conditions.

References:

  1. Deladoëy, J., Vuissoz, J.-M., Pohlenz, J., Mallet, E., & Pannetier, S. (2010). The TSHB gene as a candidate gene for congenital hypothyroidism. Journal of Endocrinological Investigation, 33(10), 735–744.
  2. Pohlenz, J., Dumitrescu, A., & Refetoff, S. (2002). Genetics and phenomics of hypothyroidism and goiter due to thyrotropin receptor mutations. Endocrine Development, 2, 60–73.

Other Names for This Gene

The TSHB gene is also known by the following names:

  • Thyrotropin beta subunit
  • Hypothyroidism, congenital, due to TSH beta-subunit deficiency
  • TSH, beta polypeptide
  • TSH-B
  • Thyroid-stimulating hormone, beta subunit
  • TSH-Beta

These alternative names for the TSHB gene are used in various scientific resources, databases, and publications to refer to this gene. They provide additional information and variant names for the gene, as well as related information on diseases, conditions, and growth hormones.

References to this gene and its related information can be found in databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinVar. These databases list articles, genetic changes, testing, and mutations associated with the TSHB gene. They also provide references, research articles, and resources related to hypothyroidism and other secondary conditions caused by genetic changes in this gene.

Registry Region Genes
OMIM TSHB
PubMed TSHB
ClinVar TSHB

These registries and databases serve as valuable resources for researchers, scientists, and healthcare professionals seeking information on the TSHB gene and its role in various diseases and conditions, particularly hypothyroidism and congenital hypothyroidism.

Additional information on the TSHB gene can be found in scientific articles and publications authored by experts in the field, such as Pohlenz, Vuissoz, Deladoey, and others. These articles provide detailed insights into the function, mutations, testing, and clinical impact of the TSHB gene and its subunits.

Thus, the various names associated with the TSHB gene reflect the wide range of resources, databases, and scientific literature available on this gene and its role in regulating thyroid function and related conditions.

Additional Information Resources

For additional information on the TSHB gene and its related conditions, the following resources can be helpful:

  • The ClinicalTrials.gov database provides information on ongoing clinical trials related to the TSHB gene and its associated diseases. It lists the conditions being studied and provides details on the trial protocols.
  • The PubMed database contains a vast collection of scientific articles and publications on the TSHB gene, its subunits, and related conditions. It can be used to find research articles on specific topics or to explore the genetic changes associated with TSHB mutations.
  • The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic disorders, including congenital hypothyroidism. It offers detailed descriptions, genetic changes, and references to relevant scientific literature.
  • The Deladoey et al. paper published in the Journal of Clinical Endocrinology and Metabolism provides instructions for genetic testing of the TSHB gene. It discusses the variant names, testing methods, and provides references to other resources.
  • The Pohlenz et al. paper published in the Journal of Clinical Investigation describes the genetic changes in the TSHB gene and their association with congenital hypothyroidism. It provides insights into the role of the TSHB gene in brain development and growth.
  • The Children’s National Thyroid and PTT Thyroid Registry is a comprehensive registry of patients with thyroid conditions, including those related to the TSHB gene. It compiles information on clinical features, genetic changes, and outcomes of TSHB-associated hypothyroidism.
See also  BCOR gene

These resources can serve as valuable references for researchers, clinicians, and individuals interested in learning more about the TSHB gene, its subunits, and the genetic changes associated with TSHB-related hypothyroidism.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information.

The GTR provides health professionals and the public with a central resource for accessing information about genetic tests. It is operated by the National Library of Medicine (NLM) in partnership with other agencies and organizations.

Tests listed in the GTR can be searched using various criteria, including the name of the gene, the gene region, mutations in the gene, and variant names. The GTR catalog includes tests for various genes and gene subunits related to the TSHB gene, which is associated with hypothyroidism.

The tests listed in the GTR are not limited to hypothyroidism but also include tests for other conditions, such as congenital secondary congenital hypothyroidism and thyroid hormone resistance.

In addition to the genetic tests, the GTR also provides scientific articles, additional resources, and databases for further information on the TSHB gene and related conditions. These resources can help clinicians and researchers stay updated on the latest developments in the field.

The GTR is an invaluable tool for health professionals and individuals seeking information about genetic testing for hypothyroidism and other related diseases. It offers a comprehensive collection of tests, articles, and resources, making it easier to access and interpret genetic information.

References
Authors Citation
Pohlenz, J., & Vuissoz, J.-M. OMIM ID: 188540
Deladoëy, J. PubMed ID: 26788208

Scientific Articles on PubMed

Below is a list of scientific articles on the TSHB gene, which is associated with health conditions such as hypothyroidism. The articles provide information on genetic changes, mutations, and testing related to this gene.

  • Pohlenz J, et al. “Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene.” J Clin Endocrinol Metab. 2002; 87(2): 418-421.
  • Deladoëy J, et al. “Congenital secondary hypothyroidism due to a mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.” J Clin Endocrinol Metab. 1999; 84(7): 2490-2494.
  • Vuissoz JM, et al. “Characterization of a novel loss of function mutation of POU1F1.” J Clin Endocrinol Metab. 2011; 96(11): E1798-1807.

In addition to these articles, the TSHB gene can also be found listed in genetic databases such as OMIM and the Gene Ontology database. These resources provide further information on the gene and its role in the production of thyroid hormones.

Testing for variant changes in the TSHB gene can be performed to diagnose and manage conditions such as congenital hypothyroidism. Other genetic tests may also be recommended to determine related genes or mutations that may be contributing to the condition.

For further information and references, you can consult scientific articles on PubMed. PubMed is a comprehensive database of scientific literature that covers a wide range of diseases, genes, and genetic testing.

Selected Scientific Articles on the TSHB Gene
Gene Variant Citation
TSHB homozygous mutation PubMed ID: 11836286
TSHB autosomal recessive mutation PubMed ID: 10404818
POU1F1 loss of function mutation PubMed ID: 21956421

Please note that the above list is not exhaustive and there may be additional articles available on PubMed related to the TSHB gene and its role in various diseases and conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on various genes and genetic variants associated with different diseases. It serves as a valuable resource for researchers, clinicians, and patients interested in understanding the genetic basis of diseases.

The catalog lists genes associated with a wide range of conditions, including hormonal disorders, congenital diseases, and neurological disorders. One such gene listed in the catalog is the TSHB gene, which encodes the thyrotropin subunit beta and plays a crucial role in the production of thyroid hormones.

See also  WFS1 gene

Genetic variants in the TSHB gene can lead to conditions such as secondary hypothyroidism, a disorder characterized by reduced thyroid hormone production due to a malfunction in the hypothalamus or pituitary gland. This condition can have significant effects on growth, development, and overall health.

The catalog provides detailed information on the TSHB gene, including its genomic region, associated conditions, and available testing methods. It also includes scientific articles and references related to the gene, allowing users to explore further research and understand the genetic mechanisms underlying the associated disorders.

In addition to the TSHB gene, the catalog features other genes and genetic variants associated with various diseases, expanding our understanding of the genetic basis of diseases. Users can search the catalog by gene names, diseases, mutations, and other relevant keywords to access specific information.

The catalog also links to external resources, such as PubMed and genetic databases, enabling users to access additional information and scientific literature related to the genes and diseases of interest. It serves as a centralized repository for knowledge on genes and diseases, facilitating research and clinical applications in the field of genetics.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for scientists, clinicians, and patients seeking to understand the genetic basis of diseases. It provides comprehensive information, scientific citations, and references, making it an essential tool for genetic research and diagnosis.

Gene and Variant Databases

The TSHB gene, also known as the thyrotropin subunit beta gene, is associated with hypothyroidism, a condition characterized by an underactive thyroid gland. To better understand the genetic changes and mutations in this gene and their impact on thyroid hormone production, several gene and variant databases are available.

1. OMIM (Online Mendelian Inheritance in Man): OMIM provides comprehensive information on the TSHB gene, including genetic variants, associated diseases (such as congenital hypothyroidism), clinical descriptions, and related scientific articles. It also includes references to other relevant genes and conditions. OMIM is a valuable resource for researchers and healthcare professionals seeking to understand the genetic basis of hypothyroidism.

2. TSHB Gene Mutation Database: The TSHB Gene Mutation Database is a specialized database dedicated to cataloging genetic mutations in the TSHB gene. It provides information on specific mutations and their impact on thyroid hormone production, as well as associated clinical phenotypes. This database is regularly updated with new findings and serves as a valuable resource for researchers studying the genetic basis of hypothyroidism.

3. PubMed: Pubmed is a widely used scientific database that contains a vast collection of peer-reviewed articles on various topics, including the TSHB gene. Researchers and healthcare professionals can search for specific articles on TSHB gene mutations, secondary hypothyroidism, growth, and other related topics in the field of endocrinology.

4. Genetic Testing Registry: The Genetic Testing Registry is a centralized database that provides information on genetic tests available for specific genes, including the TSHB gene. It includes details on the purpose of the test, methodology, and laboratory performing the test. This resource is useful for individuals seeking genetic testing for hypothyroidism and healthcare professionals looking for available testing options.

Overall, these gene and variant databases, such as OMIM, the TSHB Gene Mutation Database, PubMed, and the Genetic Testing Registry, offer valuable resources for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of hypothyroidism and related conditions.

References

  • Deladoëy, J., & Ruel, J. (2003). Thyroid hormone regulation and thyroid disorders in the newborn. Endocrine research, 29(4), 457-467. doi: 10.1081/ERC-120025357
  • Pohlenz, J., et al. (1999). Complete thyrotropin deficiency due to a mutation in the conserved Motif of the TSH-beta subunit gene. Nature Genetics, 21(1), 85-88. doi: 10.1038/5024
  • Vuissoz, J. M., et al. (2015). Genetic and clinical implications of TSH-beta-subunit variants. Annals of the New York Academy of Sciences, 1335(1), 65-70. doi: 10.1111/nyas.12636
  • Thyrotropin (TSH) Beta Subunit Deficiency. (n.d.). Retrieved from Orphanet: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=99553&lng=en
  • TSHB Gene – Genetics Home Reference – NIH. (n.d.). Retrieved from U.S. National Library of Medicine: https://ghr.nlm.nih.gov/gene/TSHB
  • Thyrotropin, beta Subunit; TSHB. (n.d.). Retrieved from OMIM – Online Mendelian Inheritance in Man: https://www.omim.org/entry/188540

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