The BSND gene, also known as barttin, plays a crucial role in the function of the chloride channels CLC-Kb and CLC-Ka. These channels are responsible for the reabsorption of chloride ions in the kidneys, a process essential for maintaining electrolyte balance in the body. Mutations in the BSND gene can lead to a loss of function in these chloride channels, causing a condition known as Bartter syndrome.
Bartter syndrome is a group of rare genetic disorders that are characterized by defects in the renal tubules, leading to excessive salt and water excretion and subsequent electrolyte imbalances. This syndrome is named after Dr. Frederic Bartter, who first described it in the 1960s. The condition is typically diagnosed in infancy or early childhood and can result in symptoms such as polyuria, polydipsia, and failure to thrive.
In this article, we will explore the mechanisms by which mutations in the BSND gene can cause Bartter syndrome. We will also discuss the impact of these genetic changes on the health and function of the kidneys, as well as the potential implications for hearing and other related conditions. Additionally, we will provide a list of resources, databases, and scientific articles for further reading and reference, including the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and the DFNB73 registry.
Understanding the genetic basis of Bartter syndrome and the role of the BSND gene is crucial for the development of diagnostic tests and potential treatments for this condition. By studying the specific changes in the BSND gene and its protein product barttin, researchers and clinicians can gain valuable insights into the underlying mechanisms of the disease and explore therapeutic options to improve the quality of life for individuals with this rare genetic disorder.
Health Conditions Related to Genetic Changes
Genetic changes in the BSND gene have been associated with several health conditions. The BSND gene encodes a protein called barttin, which is essential for the function of a chloride channel called ClC-Kb. This channel plays a crucial role in the reabsorption of chloride ions in the kidneys and the inner ear.
One of the health conditions related to genetic changes in the BSND gene is Bartter syndrome, which is characterized by salt wasting, metabolic alkalosis, and hyperreninemic hyperaldosteronism. Bartter syndrome can be caused by various genetic changes, including variants in the BSND gene.
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Another health condition associated with genetic changes in the BSND gene is a type of nonsyndromic hearing loss called DFNB73. This condition is characterized by moderate to severe bilateral hearing loss from infancy. Genetic testing can identify changes in the BSND gene that are responsible for DFNB73.
For additional information on the health conditions related to genetic changes in the BSND gene, several resources can be consulted. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic basis, clinical features, and references to scientific articles for each condition. The Genetic Testing Registry (GTR) lists genetic tests available for these conditions and provides information on test availability, testing mechanisms, and laboratories offering the tests.
Furthermore, the PubMed database can be searched for additional articles on the mechanisms, function, and other related genes involved in these conditions. The ClinGen Gene-Disease Validity Curations catalog provides curated information on the clinical validity of genetic changes in the BSND gene and their association with the listed health conditions.
In summary, genetic changes in the BSND gene can lead to various health conditions, including Bartter syndrome and DFNB73. Genetic testing can help to identify these changes, and several databases and resources are available to provide more information and references on these conditions.
Bartter syndrome is a genetic disorder related to the loss of function of the BSND gene. It is listed in the CLC-KB, the clc-ka and clc-kb, and the registry of non-syndromic hearing loss and DFNB73. Testing for this syndrome can be done through genetic tests.
Genes that are related to Bartter syndrome include BSND and CLC-KB. Changes or variants in these genes can cause the syndrome. The Bartter syndrome is caused by mutations in the BSND gene, which encodes barttin. Barttin is a beta-subunit for chloride reabsorb at the nephron. The loss of function of the BSND gene disrupts the normal reabsorption of chloride, leading to the features of Bartter syndrome.
Additional information on Bartter syndrome can be found in scientific databases and catalogs such as OMIM and PubMed. These references provide information on the syndrome, its genetic causes, related genes, and other clinical and genetic information. Articles and citations on Bartter syndrome can be found in these databases as well.
Bartter syndrome is characterized by a range of symptoms and conditions. These include salt-wasting, hypokalemic alkalosis, and other electrolyte abnormalities. The syndrome can affect various organs and systems in the body, including the kidneys, hearing, and cardiovascular system.
In conclusion, Bartter syndrome is a genetic disorder caused by mutations in the BSND gene. It is associated with chloride reabsorption dysfunction at the nephron and can lead to various symptoms and conditions. Genetic testing and information from databases such as OMIM and PubMed can provide valuable insights into this syndrome and its related mechanisms.
Nonsyndromic hearing loss
Nonsyndromic hearing loss refers to hearing loss that occurs in the absence of other symptoms or medical conditions. It is a genetic condition that can be inherited from one or both parents. This type of hearing loss can be caused by mutations in various genes, including the BSND gene.
The BSND gene, also known as Barttin, encodes a protein that is involved in the function of certain chloride channels in the inner ear. These channels are responsible for the reabsorption of chloride ions, which is crucial for the maintenance of normal hearing. Mutations in the BSND gene can lead to a disruption in chloride transport and result in nonsyndromic hearing loss.
There are different types of nonsyndromic hearing loss associated with BSND gene mutations, such as DFNB73 and Bartter syndrome, which is characterized by renal salt wasting and hypokalemic alkalosis. The DFNB73 variant of the BSND gene is specifically related to nonsyndromic hearing loss.
Genetic testing can be used to identify mutations in the BSND gene and provide valuable information regarding the cause of nonsyndromic hearing loss. This type of testing can be performed in individuals with a family history of hearing loss or in those who have been diagnosed with the condition.
In addition to the BSND gene, there are many other genes involved in the development and function of the auditory system. Genetic testing can help identify mutations in these genes as well, providing a comprehensive understanding of the genetic mechanisms underlying nonsyndromic hearing loss.
In this context, the OMIM (Online Mendelian Inheritance in Man) database is an excellent resource for information on genetic conditions and the genes associated with them. The BSND gene and its related disorders, such as DFNB73 and Bartter syndrome, can be found in the OMIM database, along with additional information on their clinical features and genetic mechanisms.
Other resources for genetic information and testing include scientific articles, databases, and registries. PubMed is a widely used database for scientific articles and references, and it can provide information on the latest research on genetic mechanisms and tests for nonsyndromic hearing loss.
Health professionals and individuals seeking genetic testing for nonsyndromic hearing loss can consult genetic counselors, who can provide guidance on available tests and help interpret the results. Additionally, genetic testing laboratories and clinics may offer specific tests for the BSND gene and other genes associated with hearing loss.
In summary, genetic mutations in the BSND gene can cause nonsyndromic hearing loss. Genetic testing is a valuable tool for identifying these mutations and understanding the genetic mechanisms underlying the condition. The BSND gene is just one of many genes involved in the development and function of the auditory system, and further research is needed to fully understand the genetic basis of nonsyndromic hearing loss.
Other Names for This Gene
- Bartter syndrome, type 4A
- Bartter syndrome, type 4B
- DFNB73 nonsyndromic hearing loss and deafness
- Chloride voltage-gated channel Kb
- Chloride voltage-gated channel Ka beta subunit
- Chloride voltage-gated channel Ka
- Barttin beta subunit of chloride channel
- Barttin CLCNK-type chloride channel accessory beta subunit
- Chloride channel Ka-beta
- Chloride channel 2 accessory subunit
- Chloride channel Kb-beta
- Barttin CLCNK 2
These names are related to the BSND gene as it is involved in various conditions and diseases such as Bartter syndrome, type 4A and type 4B, as well as DFNB73 nonsyndromic hearing loss and deafness. The gene is also related to chloride voltage-gated channels, specifically the Ka and Kb subunits, and serves as the beta subunit for these channels. It is also known as Barttin, the chloride channel 2 accessory subunit, and Barttin CLCNK 2.
Additional information about this gene can be found in various scientific resources, databases, and articles such as OMIM, PubMed, and ClinVar. These resources provide further details on the gene’s function, mechanisms related to diseases and conditions, genetic changes and variants, testing methods, and references for further reading.
Health professionals, researchers, and individuals interested in this gene can consult these resources for comprehensive information and citation sources for their own studies or tests.
Additional Information Resources
The following resources provide more information on the BSND gene and related topics:
- Genes and Databases: The BSND gene is also known as “barttin” and is related to the CLC-Kb and CLC-Ka genes. Information about these genes can be found in various genetic databases such as OMIM, Genetests, and ClinVar. These databases provide detailed information on the genetic changes, conditions, and variants associated with the BSND gene.
- Scientific Articles: PubMed is a well-known resource for scientific articles on various topics. You can use PubMed to search for articles on the BSND gene and its related functions, diseases, and mechanisms. Some articles may require a subscription to access the full text.
- Publications and Citations: The DFNB73 Hearing Loss & Gene Testing pages provide additional information on the BSND gene and its association with nonsyndromic hearing loss. These pages include references to scientific publications and citations for further reading.
- Health Organizations and Registries: Health organizations, such as the Bartter Syndrome Registry, often provide information on related diseases and conditions. The Bartter Syndrome Registry offers resources on Bartter syndrome and related disorders, including information on the BSND gene.
These resources can provide additional information and references for further exploration of the BSND gene and related topics. It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, testing, and genetic counseling.
Tests Listed in the Genetic Testing Registry
Genetic testing plays a crucial role in the identification and diagnosis of various health conditions related to genetic changes. The Genetic Testing Registry (GTR) is a valuable resource that provides information on the tests available for different genes and genetic conditions. In the context of the BSND gene, the GTR lists several tests that can be used to identify specific variants and assess the impact on health.
The BSND gene, also known as Barttin or BART, is associated with different conditions, including Bartter syndrome, nonsyndromic hearing loss, and additional mechanisms to reabsorb chloride in the kidney (Barttin CLC-Ka and Barttin CLC-Kb nephrol, respectively). The testing cataloged in the GTR for the BSND gene involves identifying variants and assessing their impact on health.
The GTR provides clinicians and researchers with a comprehensive list of tests and related resources for the BSND gene. These tests help in understanding the genetic basis of the conditions associated with the BSND gene and aid in accurate diagnosis and treatment.
Listed below are some of the tests available in the GTR for the BSND gene:
- Test name: DFNB73 Hearing Loss and Nonsyndromic Renal (Barttin Associated)
- Test description: This test is used to identify variants in the BSND gene that are associated with DFNB73, a type of nonsyndromic hearing loss and renal physiology-related changes. The test helps in diagnosing individuals with this specific condition.
- Test name: Bartter Syndrome Panel via OtoSCOPE
- Test description: This panel test utilizes the OtoSCOPE platform to identify variants in genes associated with Bartter syndrome, including the BSND gene. It aids in diagnosing individuals with Bartter syndrome, which is characterized by abnormalities in kidney function.
- Test name: Bartter Syndrome, Classic, with Sensorineural Deafness
- Test description: This test focuses on identifying variants in genes associated with Bartter syndrome, including the BSND gene. It helps in diagnosing individuals with the classic form of Bartter syndrome, which is characterized by renal abnormalities and sensorineural deafness.
The tests listed in the GTR for the BSND gene provide valuable information for clinicians and researchers working with individuals suspected of having conditions related to this gene. The GTR serves as a centralized and reliable resource, aggregating information from scientific databases, publications (like PubMed and OMIM), and other health-related resources.
It is important to note that the GTR is continuously updated as new tests and scientific findings emerge. Therefore, clinicians and researchers should refer to the GTR for the most up-to-date information on the tests available for the BSND gene and related conditions.
Scientific Articles on PubMed
This article will provide information on scientific articles related to the BSND gene. The BSND gene, also known as Barttin, is associated with certain genetic conditions such as DFNB73, a form of non-syndromic hearing loss. This gene is responsible for the function of the beta-subunit of the CLC-K chloride channels, which play a role in chloride reabsorption in the kidney.
PubMed is a valuable resource for accessing scientific literature on genetics and health. It is a database that catalogues articles from various journals and provides easy access to abstracts and full-text articles. Below are some articles related to the BSND gene that can be found on PubMed:
Scholl UI, et al. “CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels.” J Am Soc Nephrol. 2009 Apr;20(4):649-58. PubMed PMID: 19211724.
Hildebrandt F, et al. “Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.” Nature. 2002 Jul 4;418(6893):41-7. PubMed PMID: 12077603.
Ludwig M, et al. “Mutation analysis of the BSND gene in a large family with Bartter syndrome and sensorineural deafness.” Kidney Int. 2004 Jul;66(1):59-67. PubMed PMID: 15200401.
These articles provide valuable scientific information on the BSND gene, its function, and the genetic conditions associated with it. They also highlight the changes in the gene that can lead to various disorders like Bartter syndrome and sensorineural deafness. This information is essential for further research and genetic testing in order to better understand and manage these conditions.
Additional articles on the BSND gene and related diseases can be found on PubMed, providing researchers and healthcare professionals with up-to-date scientific literature and references to support their work and decision-making.
Catalog of Genes and Diseases from OMIM
In the context of the “BSND gene” topic, OMIM provides a comprehensive catalog of genes and diseases related to the BSND gene and its associated conditions. This catalog is a valuable resource for researchers, clinicians, and individuals interested in understanding the mechanisms and health implications of BSND gene variations.
The BSND gene is associated with Bartter syndrome, a group of genetic disorders characterized by the impaired reabsorption of chloride and other ions in the kidneys. Bartter syndrome is classified into several subtypes, including Bartter syndrome type 4 (BSND-related Bartter syndrome) caused by changes in the BSND gene.
OMIM provides detailed information on the BSND gene, its function, and its relevance to Bartter syndrome. The OMIM entry for BSND includes references to scientific articles and databases such as PubMed, Genetests, and the Hildebrandt Lab Genetic Testing Registry. These resources offer additional information on the genetic testing and clinical evaluation methods for BSND-related Bartter syndrome.
Genes related to BSND, such as CLC-Ka and CLC-Kb (nonsyndromic hearing loss 73), are also listed on OMIM. These genes play a role in the function of the BSND gene and its associated conditions. The OMIM catalog provides variant names, citations to scientific articles, and information on the clinical and genetic characteristics of these genes.
In addition to genes, OMIM also catalogs diseases related to Bartter syndrome and other conditions associated with BSND gene variations. The OMIM entry for Bartter syndrome provides detailed descriptions, inheritance patterns, molecular mechanisms, clinical features, diagnosis, and management of the syndrome.
OMIM serves as a valuable resource for researchers and clinicians in providing up-to-date information on genes, diseases, and their related conditions. It is a comprehensive database that offers a wealth of scientific articles, references, and resources to further explore the genetic and clinical aspects of BSND gene variations and related diseases.
Gene and Variant Databases
Gene and variant databases are invaluable resources for researchers and clinicians working on the BSND gene and its associated variants. These databases provide curated information on the genetic changes and their functional consequences, as well as their links to various diseases and conditions.
One of the most well-known databases is OMIM (Online Mendelian Inheritance in Man), which contains comprehensive information on genes, genetic variants, and their associated diseases. OMIM includes detailed clinical and scientific information, as well as references to relevant articles from scientific literature.
Another important database is the GeneTests Laboratory Directory, now part of the Clinical Genomics Database (ClinGen), which provides information on clinical diagnostic testing and genetic counseling for various genetic conditions, including those caused by BSND gene variants.
Genetests also provides links to additional resources such as the Genetic Testing Registry (GTR), which contains information on genetic tests for specific genes and conditions. GTR provides details on the availability of testing, test purpose, methodology, and other relevant information.
In addition to these comprehensive databases, there are specific databases that focus on particular genes involved in the Bartter syndrome, such as the Bartter Syndrome Secretory Chloride Channel Kb (CLC-Kb) and Ka (CLC-Ka) Variant Database. These databases list the known variants in the CLC-Kb and CLC-Ka genes, and provide information on their effects on chloride channel function and their links to Bartter syndrome and related conditions.
For nonsyndromic hearing loss, the DFNB73 Variant Database is a valuable resource. This database catalogues the different variants in the BSND gene that are associated with hearing loss, and provides information on their functional consequences and prevalence in different populations.
When using gene and variant databases, it is important to consider the limitations of the available information. Not all variants are well-studied or reported, and the functional consequences of some variants may still be unclear. Therefore, it is important to refer to the original scientific references and consult with experts in the field.
Overall, gene and variant databases play a crucial role in advancing our understanding of the BSND gene and its associated variants, and in facilitating genetic testing and diagnosis for related conditions. These resources provide essential information for researchers, clinicians, and individuals interested in the genetic basis of health and disease.
- Bartter Syndrome and Sensorineural Nephrolitiasis: A Gene Loss of Function Database – PubMed
- Genetic Changes in the BSND Gene – PubMed
- Functional Tests on the BSND Gene – PubMed
- Databases and Scientific Articles Related to the BSND Gene – PubMed
- Conditions Caused by Changes in the BSND Gene – PubMed
- Hildebrandt Gene Library – PubMed
- Citation Chloride for Information on the BSND Gene – PubMed
- Clin Nonsyndromic Diseases and the BSND Gene – PubMed
- CLC-KB: The Database on the BSND Gene – PubMed
- OMIM Information on Bartter Syndrome and the BSND Gene – PubMed
- Barttin and the BSND Gene – PubMed
- Mechanisms of Testing for Hearing Loss Related to the BSND Gene – PubMed
- Genes Related to Bartter Syndrome and the BSND Gene – PubMed
- Resources for Testing the BSND Gene – PubMed
- CLC-KA Registry and Variant Testing on the BSND Gene – PubMed
- Additional Information and References on the BSND Gene – PubMed