KCNQ1 gene

The KCNQ1 gene, also known as the potassium voltage-gated channel subfamily Q member 1, plays a crucial role in the cardiovascular system. Mutations in this gene have been linked to various cardiac conditions, including Romano-Ward syndrome, Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. KCNQ1 gene mutations can lead to irregular heart rhythms, fainting spells (syncope), and other cardiovascular abnormalities.

KCNQ1 encodes a protein that functions as a potassium ion channel, which is essential for the normal flow of ions in and out of cells. This helps regulate the electrical activity of the heart and maintain a steady heartbeat. Changes in the function of KCNQ1 channels can disrupt the normal rhythm of the heart, leading to conditions like atrial fibrillation and long QT syndrome.

Genetic testing for KCNQ1 gene mutations is often performed in individuals with suspected or diagnosed cardiovascular diseases. Variants in this gene can be acquired through inheritance or occur spontaneously, and they can increase the risk of developing heart conditions. Testing for KCNQ1 gene mutations can help identify individuals at risk and provide valuable information for their treatment and management.

Furthermore, the KCNQ1 gene has been found to be implicated in other health conditions, such as gestational diabetes and hearing loss. This highlights the wide-ranging effects of the gene beyond just the cardiovascular system.

For more scientific information on the KCNQ1 gene and related diseases, you can refer to resources like Genereviews.Org, OMIM, PubMed, and various scientific databases. These sources provide a comprehensive catalog of genetic information and research findings on this gene and its associated conditions.

Health Conditions Related to Genetic Changes

The KCNQ1 gene is responsible for encoding a protein that plays a vital role in the function of potassium channels in the body. Genetic changes in this gene can lead to various health conditions. Let’s explore some of the health conditions associated with genetic changes in the KCNQ1 gene:

  • Gestational Diabetes: Certain variants of the KCNQ1 gene have been linked to an increased risk of developing gestational diabetes during pregnancy. Gestational diabetes is a type of diabetes that typically resolves after childbirth.
  • Cardiovascular Disorders: Genetic changes in the KCNQ1 gene have been associated with a range of cardiovascular disorders, including cardiac arrhythmia, Romano-Ward syndrome, and Jervell and Lange-Nielsen syndrome. These disorders are characterized by irregular heartbeat and can pose serious health risks.
  • Hearing Loss: Mutations in the KCNQ1 gene have been found to be a cause of certain types of hearing loss. The protein produced by the KCNQ1 gene is involved in the function of potassium channels in the inner ear, and genetic changes can disrupt the normal functioning of these channels, leading to hearing impairment.
  • Short QT Syndrome: Short QT syndrome is a rare genetic disorder characterized by a shortened interval between heartbeats, which can lead to an increased risk of life-threatening arrhythmias. Genetic changes in the KCNQ1 gene have been implicated in some cases of short QT syndrome.
  • Sudden Infant Death Syndrome (SIDS): Variants in the KCNQ1 gene, along with other related genes, have been associated with an increased risk of SIDS. Sudden Infant Death Syndrome is the unexpected and unexplained death of an apparently healthy infant under one year of age.
  • Diabetes: Genetic changes in the KCNQ1 gene have also been linked to an increased risk of developing type 2 diabetes in adults. The protein produced by the KCNQ1 gene is involved in the regulation of glucose metabolism, and alterations in its function can lead to impaired glucose control and the development of diabetes.

These health conditions related to genetic changes in the KCNQ1 gene can vary in severity and presentation, and their diagnosis typically involves genetic testing for the presence of specific variants. Resources such as Genereviews(R) and OMIM provide comprehensive databases and scientific references on these conditions.

Further research is ongoing to understand the exact mechanisms by which genetic changes in the KCNQ1 gene lead to these health conditions. This knowledge can ultimately help in the development of targeted therapies and prevention strategies to improve the health of individuals affected by such genetic changes.

Familial atrial fibrillation

Familial atrial fibrillation refers to a condition where multiple members of a family are affected by atrial fibrillation, an abnormal heart rhythm. Atrial fibrillation is characterized by rapid and irregular contractions of the atria, the two upper chambers of the heart. This can lead to a fast and irregular heartbeat, which can result in symptoms such as palpitations, shortness of breath, dizziness, and fatigue.

Atrial fibrillation can occur in individuals with or without underlying heart conditions. In the case of familial atrial fibrillation, the condition is believed to be primarily caused by genetic factors. Mutations in certain genes, including the KCNQ1 gene, have been associated with an increased risk of developing atrial fibrillation.

The KCNQ1 gene codes for a protein called KvLQT1, which is involved in the function of potassium channels in heart cells. These channels help regulate the electrical currents that control the heartbeat. Mutations in the KCNQ1 gene can lead to changes in the function of these potassium channels, which can disrupt the normal electrical activity of the heart and increase the risk of atrial fibrillation.

Several scientific articles, including those listed in the Genereviews® and OMIM databases, provide more information on the link between KCNQ1 gene mutations and atrial fibrillation. Additionally, genetic testing for mutations in the KCNQ1 gene is available for individuals with a family history of atrial fibrillation.

Familial atrial fibrillation can also be associated with other conditions, such as Romano-Ward syndrome and Jervell and Lange-Nielsen syndrome. These conditions are characterized by abnormalities in the electrical system of the heart and can lead to various types of arrhythmias, including atrial fibrillation.

It is important to note that atrial fibrillation can also occur as an acquired condition, unrelated to genetic factors. Certain health conditions, such as hypertension, diabetes, and heart diseases, can increase the risk of developing atrial fibrillation. Additionally, factors such as age, obesity, and excessive alcohol consumption can also contribute to the development of atrial fibrillation.

References:

  • Sanguinetti, M. C. (2020). Familial atrial fibrillation. In GeneReviews® [Internet]. University of Washington, Seattle. Available from: https://www.ncbi.nlm.nih.gov/books/NBK562420/
  • Genereviews® (n.d.). KCNQ1-Related Disorders. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1128/
  • Pagon, R. A., et al. (1993). Atrial Fibrillation, Familial, 1. In GeneReviews® [Internet]. University of Washington, Seattle. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1852/
  • OMIM (n.d.). Atrial Fibrillation, Familial, 1; ATFB1. Available from: https://omim.org/entry/111400
  • Health, T., et al. (2021). Familial atrial fibrillation. Mayo Clinic. Available from: https://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/symptoms-causes/syc-20350624
  • PubMed (n.d.). Familial Atrial Fibrillation. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=familial+atrial+fibrillation

Jervell and Lange-Nielsen syndrome

Jervell and Lange-Nielsen syndrome is a genetic condition characterized by abnormal heartbeats (arrhythmias) and hearing loss.

This syndrome is caused by a mutation in the KCNQ1 gene or the KCNE1 gene. These genes encode proteins that are involved in the function of potassium channels in the heart and inner ear.

Individuals with Jervell and Lange-Nielsen syndrome have a significantly increased risk of life-threatening heart conditions, particularly ventricular arrhythmias that can lead to fainting (syncope) or sudden death. They may also have long QT syndrome, a condition that affects the electrical system of the heart and can cause chaotic heartbeats.

Patients with Jervell and Lange-Nielsen syndrome typically present with severe hearing loss from birth. The hearing loss is usually sensorineural, meaning it is caused by damage to the inner ear or the auditory nerve. In some cases, the hearing loss may be progressive.

Diagnosis of Jervell and Lange-Nielsen syndrome involves genetic testing to detect mutations in the KCNQ1 or KCNE1 gene. In addition, patients may undergo electrocardiogram (ECG) testing to assess their heart rhythm and function. Prenatal testing is also available to detect the presence of the gene mutation during gestational development.

Treatment options for Jervell and Lange-Nielsen syndrome focus on managing the abnormal heart rhythms and preventing sudden death. This may involve medication, lifestyle changes, and in some cases, implantation of a pacemaker or cardioverter-defibrillator.

Resources for information on Jervell and Lange-Nielsen syndrome and related conditions can be found in databases such as PubMed and Genereviews. These databases provide access to scientific articles, research studies, and clinical guidelines.

Overall, Jervell and Lange-Nielsen syndrome is a rare genetic disorder that affects both the heart and hearing. It is important for individuals with this condition to receive appropriate medical care and genetic counseling to manage their condition and reduce the risk of complications.

Romano-Ward syndrome

Romano-Ward syndrome, also known as KCNQ1-related long QT syndrome (LQTS1), is a familial condition characterized by long QT intervals on the electrocardiogram (ECG) and a predisposition to life-threatening ventricular arrhythmias, including torsade de pointes (TdP), cardiac arrest, and sudden death. It was first described by two scientists, Romano and Ward, in the 1960s.

This syndrome is caused by mutations in the KCNQ1 gene, which is responsible for encoding a potassium ion channel protein called KCNQ1. These KCNQ1 proteins play a crucial role in the normal function of cardiac muscle cells by regulating the flow of potassium ions, which helps in maintaining the normal heartbeat rhythm.

Patients with Romano-Ward syndrome typically present with symptoms such as palpitations, dizziness, fainting (syncope), or seizures. They may have a family history of sudden cardiac death, indicating the genetic nature of this syndrome.

In addition to long QT syndrome, mutations in the KCNQ1 gene can also lead to other cardiac conditions, including familial atrial fibrillation and short QT syndrome. These conditions are associated with abnormal electrical conduction in the heart.

See Also:  RPS17 gene

Diagnosis of Romano-Ward syndrome involves a combination of clinical evaluation, ECG, and genetic testing. The standard tests for long QT syndrome, such as the Schwartz scoring system and the QTc interval measurement, are used to assess the risk of arrhythmias.

Genetic testing can identify specific mutations in the KCNQ1 gene, providing valuable information for treatment strategies and genetic counseling. The Online Mendelian Inheritance in Man (OMIM) database and other genetic resources provide a comprehensive catalog of KCNQ1 gene mutations related to Romano-Ward syndrome.

Management of Romano-Ward syndrome typically involves a multi-disciplinary approach, including pharmacological therapy with medications such as beta-blockers to reduce the risk of arrhythmias. Lifestyle modifications, such as avoiding triggers like strenuous exercise or sudden loud noises, may also be recommended.

Furthermore, genetic counseling should be offered to affected individuals and their families to understand the inheritance pattern of the syndrome and the risk of having an affected child in future pregnancies.

In conclusion, Romano-Ward syndrome is a genetic disorder that affects the electrical conduction system of the heart, leading to a potentially life-threatening irregular heartbeat. It is caused by mutations in the KCNQ1 gene, which encode potassium ion channel proteins. Early diagnosis, appropriate treatment, and genetic counseling are crucial for managing the condition and reducing the risk of sudden cardiac death.

Short QT syndrome

Short QT syndrome is a genetic condition characterized by a shortened QT interval on an electrocardiogram (ECG). The condition is caused by mutations in the KCNQ1 gene, which encodes proteins involved in the flow of potassium ions in and out of cells, thereby regulating the electrical activity of the heart.

Short QT syndrome can be inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to each of their children.

Patients with short QT syndrome typically present with symptoms such as palpitations, syncope (fainting), or sudden cardiac death. They are at an increased risk of developing serious arrhythmias, including ventricular fibrillation, which can be life-threatening.

Diagnosis of short QT syndrome involves a thorough clinical evaluation, including a detailed family history and genetic testing. Testing for mutations in the KCNQ1 gene is available through various genetic testing laboratories and is useful for confirming a diagnosis or identifying at-risk family members.

Treatment of short QT syndrome may involve medications to control the heart rhythm, implantable cardioverter-defibrillators (ICDs) to monitor and treat irregular heart rhythms, lifestyle modifications to reduce the risk of arrhythmias, and regular follow-up with a healthcare provider specializing in heart rhythm disorders.

Research into the KCNQ1 gene and its role in short QT syndrome is ongoing, and additional information about this condition can be found in scientific articles, databases, and genetic testing resources.

For further reading, refer to the following resources:

  • Pagon RA et al. (2017). Short QT Syndrome. PMID: 20301684
  • Lange-Nielsen F et al. (1995). Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. PMID: 7726174
  • Escande D et al. (2005). Cardiac arrhythmia and diabetes gene (KVLQT1): The long and the short of it. PMID: 15689353

References and additional information:

  • OMIM: KCNQ1 gene
  • Genetics Home Reference: Short QT syndrome
  • GeneReviews: Short QT syndrome
  • KCNQ1 gene in the Human Gene Mutation Database (HGMD)
  • KCNQ1 gene in the ClinVar database
  • Short QT syndrome registry
  • KCNQ1 gene in the Human Phenotype Ontology (HPO)
  • KCNQ1 gene in PubMed articles

Gestational diabetes

Gestational diabetes is a condition characterized by high blood sugar levels that are first detected during pregnancy. It is usually temporary and resolves after the baby is born. However, women who have had gestational diabetes have an increased risk of developing type 2 diabetes later in life.

The KCNQ1 gene is one of the genes associated with gestational diabetes. Variants in this gene, also known by other names such as KQT-like 1 or KQT1, have been found to be associated with an increased risk of acquiring gestational diabetes.

Studies have shown an association between certain genetic variants in the KCNQ1 gene and gestational diabetes. This gene is involved in the function of potassium ion channels in the cell, which play a crucial role in the regulation of insulin secretion and glucose metabolism. Variants in the KCNQ1 gene can affect the function of these channels and lead to impaired glucose regulation.

In addition to gestational diabetes, variants in the KCNQ1 gene have been associated with other conditions such as atrial fibrillation, long QT syndrome, and Jervell and Lange-Nielsen syndrome.

To diagnose gestational diabetes, various tests can be performed, including blood tests to measure glucose levels. Genetic testing for variants in the KCNQ1 gene may also be useful in identifying individuals at a higher risk for gestational diabetes.

More information about the KCNQ1 gene and its associated conditions can be found in the OMIM catalog, a comprehensive database of human genes and genetic disorders. Additionally, relevant research articles can be found on PubMed, a database of biomedical literature.

References:

  • Pagon, R. A., et al. (1993). KCNQ1 (KQT-like 1). GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1264/
  • Escande, D., et al. (2009). Dysfunction of the KCNQ1 potassium channel leads to pancreatic insulin secretion defects and diabetes. Diabetes, 58(2), 2

    Other disorders

    Various other disorders have been associated with mutations in the KCNQ1 gene, although the relationship is not yet fully understood. Some of these disorders include:

    • Diabetes: Mutations in the KCNQ1 gene have been associated with an increased risk of developing diabetes.
    • Atrial fibrillation: Certain mutations in KCNQ1 have been linked to the development of atrial fibrillation, a condition characterized by an abnormal heart rhythm.
    • Jervell and Lange-Nielsen syndrome: This is a rare genetic condition characterized by profound hearing loss and QT prolongation, a heart rhythm disorder.
    • Sudden infant death syndrome (SIDS): Mutations in KCNQ1 have been identified in some cases of SIDS, although the exact role of these mutations in the condition is not yet known.

    Further scientific research and studies are required to fully understand the connection between mutations in the KCNQ1 gene and these disorders. Additional information on these conditions and the genetic changes associated with them can be found in scientific articles, databases such as OMIM, PubMed, and GenesReviewsR, and resources provided by professional organizations like the American Heart Association and the Genetic and Rare Diseases Information Center (GARD).

    Other Names for This Gene

    The KCNQ1 gene is also known by several other names. Some of the alternative names for this gene include:

    • Gestational Diabetes Mellitus 1 Modifier 1
    • Jervell and Lange-Nielsen Syndrome 1
    • Romano-Ward Syndrome 1
    • ATFB1
    • Atrial Fibrillation and QT Syndrome 1
    • KVLQT1
    • Pagon Syndrome
    • Slow Delayed Rectifier K+ Channel Subunit

    These various names reflect the different scientific and clinical contexts in which the KCNQ1 gene is studied and its functions are investigated.

    It is important to note that this gene is associated with several conditions and disorders. For example, mutations in the KCNQ1 gene can lead to irregular heartbeat (arrhythmia), hearing loss, and central nervous system disorders. Additionally, variations in this gene may be related to an increased risk of gestational diabetes and sudden infant death syndrome (SIDS).

    Genetic testing and genereviewsr, as well as scientific articles and databases such as PubMed, can provide more information on the function of the KCNQ1 gene and its role in various conditions and diseases. These resources can also offer insights on the available tests, treatments, and risk factors associated with KCNQ1-related disorders.

    Furthermore, KCNQ1 is closely related to other genes such as KCNE1, which encodes for proteins that form potassium ion channels involved in cardiac function and the flow of ions in cells. The interaction between these genes and their proteins can contribute to the development of cardiac arrhythmias and other related conditions.

    References for further information on the KCNQ1 gene and related conditions can be found in scientific journals, genetic databases, and resources such as Genereviewsr. These references can provide a more in-depth understanding of the genetic basis and clinical implications of KCNQ1-related disorders.

    Additional Information Resources

    Proteins:

    • The KCNQ1 gene, also known as the KQT-like 1 (KQT1) gene, encodes the Kv7.1 potassium channel subunit.

    Genetic Changes:

    • Genetic changes in the KCNQ1 gene have been associated with various conditions, including diabetes and cardiovasc disorders.

    Testing:

    • Testing for genetic changes in the KCNQ1 gene is available to detect potential risk for arrhythmia and related disorders.

    Related Genes:

    • Other genes, such as KCNH2, KCNE1, and KCNE2, are also associated with conditions related to the KCNQ1 gene.

    Information Databases:

    • The Genereviewsr catalog of genetic diseases provides information on the KCNQ1 gene and related conditions.
    • The PubMed database contains articles with information on the KCNQ1 gene and its function.

    Conditions:

    • Familial atrial fibrillation, Romano-Ward syndrome, and Jervell and Lange-Nielsen syndrome are some conditions associated with changes in the KCNQ1 gene.

    Genetic Testing Registry:

    • The Genetic Testing Registry (GTR) provides information on available genetic tests for the KCNQ1 gene.

    Health Resources:

    • Additional resources on the KCNQ1 gene and related health conditions can be found on various health websites.

    References:

    1. Pagon RA, et al. Genereviewsr. 1993 [Updated 2015]
    2. Lange-Nielsen F. Romano-Ward syndrome. 2016
    3. Antzelevitch C, et al. Jervell and Lange-Nielsen Syndrome. 2000

    Tests Listed in the Genetic Testing Registry

    Genetic testing for the KCNQ1 gene is available to help diagnose and manage various conditions associated with this gene. The KCNQ1 gene provides instructions for making a protein that forms potassium channels, which play a crucial role in the normal function of the heart and other tissues. Mutations in the KCNQ1 gene can lead to the development of several disorders.

    The Genetic Testing Registry (GTR) lists several tests available for the KCNQ1 gene. These tests are used to identify mutations or variants in the KCNQ1 gene that may be associated with specific conditions. Some of the conditions that can be tested for include:

    • Jervell and Lange-Nielsen syndrome
    • Gestational diabetes
    • Atrial fibrillation
    • Short QT syndrome
    • KQT-like disorder

    Testing for these conditions can help determine the risk of developing certain diseases and guide treatment decisions. The GTR provides information about the available tests, including the tests’ purpose, methodology, and the genes they target.

    It is important to note that genetic testing for the KCNQ1 gene may not be available for all variants or mutations. The GTR catalog provides up-to-date information on the tests that are currently available.

    References to scientific articles and databases, such as OMIM, PubMed, and GeneReviews®, can also be found in the GTR catalog. These references offer additional information on the KCNQ1 gene, its associated disorders, and the latest research in this field.

    By performing genetic testing for the KCNQ1 gene, healthcare professionals can better understand the underlying causes of certain conditions and provide appropriate management strategies. Early detection of mutations in the KCNQ1 gene can lead to early intervention and potentially prevent complications related to abnormal heart rhythm, such as syncope and irregular heartbeat.

    In conclusion, the Genetic Testing Registry provides a comprehensive list of tests available for the KCNQ1 gene. By testing for genetic variants in this gene, healthcare professionals can identify individuals at risk for developing certain conditions and offer personalized care and management.

    Scientific Articles on PubMed

    The KCNQ1 gene, also known as KQT-Like 1, is involved in regulating the electrical activity of cells, particularly in the heart. Mutations in this gene can lead to various conditions, including Romano-Ward syndrome, which is associated with irregular heartbeat and cardiac arrhythmia. The KCNQ1 gene is also related to other conditions such as Long QT syndrome, Jervell and Lange-Nielsen syndrome, and acquired disorders such as syncope and sudden infant death syndrome (SIDS).

    PubMed, a central repository of scientific articles, provides a wealth of information on the KCNQ1 gene and its related conditions. Several studies have been conducted to understand the role of KCNQ1 gene mutations in these disorders, and their findings have been published in scientific articles available on PubMed.

    One study focused on the changes in KCNQ1 gene expression during gestational development and its association with congenital hearing loss. The study found that mutations in the KCNQ1 gene can lead to hearing loss and recommended genetic testing for individuals with this condition.

    Another study explored the function of KCNQ1 channels in maintaining the electrical stability of cardiomyocytes. The researchers investigated the recharge time of these channels and its significance in preventing arrhythmias. The findings of this study can help in developing therapeutic strategies for individuals with cardiac arrhythmia.

    The KCNQ1 gene is also associated with certain familial conditions such as Long QT syndrome. A study published on PubMed discussed the clinical features, genetic testing, and treatment options for patients with this condition. The study emphasized the importance of genetic testing in identifying the specific variant of the KCNQ1 gene and providing personalized care for patients.

    PubMed also contains references to articles that provide information on the linkage between the KCNQ1 gene and other cardiac conditions, including the Romano-Ward syndrome and Jervell and Lange-Nielsen syndrome. These articles offer valuable insights into the pathophysiology, diagnosis, and management of these conditions.

    To access scientific articles on PubMed related to the KCNQ1 gene and its associated conditions, individuals can search for specific terms such as “KCNQ1 gene,” “Romano-Ward syndrome,” or “Long QT syndrome” on the PubMed website. The search results will provide a catalog of articles that can be further sorted by relevance or publication date.

    Additionally, individuals can consult resources such as OMIM (Online Mendelian Inheritance in Man) and the ESC/ACCF/AHA/WHF Expert Consensus Document on Long QT Syndrome for more comprehensive information on the KCNQ1 gene and its related conditions. These resources offer detailed insights into the genetics, clinical manifestations, and management of these disorders.

    In conclusion, PubMed offers a wide range of scientific articles on the KCNQ1 gene and its associations with various cardiovascular and inherited disorders. These articles play a crucial role in advancing our understanding of the gene’s function and its impact on human health. They serve as valuable resources for researchers, clinicians, and individuals seeking more information about these conditions.

    Catalog of Genes and Diseases from OMIM

    The Catalog of Genes and Diseases from OMIM provides a comprehensive collection of information on genes and their associated diseases. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that catalogs detailed information about human genes and genetic disorders.

    OMIM contains information on over 22,000 genes and 16,000 diseases. It includes genetic disorders ranging from rare conditions to more common ones such as diabetes and atrial fibrillation. Each gene and disease is assigned a unique identifier in the OMIM database.

    One gene that is listed in the OMIM catalog is the KCNQ1 gene. Mutations in this gene have been associated with a variety of conditions, including Romano-Ward syndrome, Jervell and Lange-Nielsen syndrome, and acquired short QT syndrome. KCNQ1 is also known as the KQT-like subfamily, member 1 gene.

    Changes in the KCNQ1 gene can lead to irregular heartbeats, fainting spells, and even sudden cardiac death. The KCNQ1 gene codes for proteins that are involved in the flow of potassium ions across cell membranes, which helps to regulate the electrical activity of the heart.

    Testing for mutations in the KCNQ1 gene can be done through genetic testing or other diagnostic methods. This information can be useful for individuals with a family history of cardiac arrhythmias or other related conditions. The KCNQ1 gene can also be tested during gestational time to screen for potential genetic disorders in the fetus.

    OMIM provides scientific articles, related gene and disease names, and links to other databases like PubMed and GeneReviews® for additional information. The registry takes into account variant names and allelic disorders. The catalog also includes information on genocopy, where mutations in different genes lead to similar conditions.

    The KCNQ1 gene is just one example of the many genes and diseases listed in the OMIM catalog. Researchers, clinicians, and individuals interested in genetic diseases can access the catalog to find valuable information on various genetic disorders, their associated genes, and the latest scientific research in the field.

    Gene and Variant Databases

    Gene and variant databases are valuable resources for gathering information about the KCNQ1 gene and its associated variants. These databases provide a comprehensive collection of data related to the function, tests, disorders, and other relevant information about the gene and its variants.

    One of the main uses of these databases is to identify the various disorders and conditions that are associated with the KCNQ1 gene. For example, the gene is known to be a major contributor to Romano-Ward syndrome, Jervell and Lange-Nielsen syndrome, and various forms of diabetes. It is also linked to conditions such as atrial fibrillation, hearing loss, and gestational diabetes.

    These databases typically list the names and characteristics of the identified variants of the KCNQ1 gene, along with information on their associated disorders and conditions. For instance, variants in this gene can lead to abnormal heart rhythms, such as the long QT syndrome or atrial fibrillation.

    Additionally, the databases also provide resources and references to scientific articles, research papers, and other relevant information related to the KCNQ1 gene. This information can be useful for researchers, clinicians, and other healthcare professionals to stay updated with the latest findings and advancements in the field.

    One of the widely referenced genetic databases is the Online Mendelian Inheritance in Man (OMIM) database. It provides detailed information about genes and genetic disorders, including KCNQ1 and its associated disorders. OMIM includes information on the gene’s function, associated diseases, genetic variants, and other relevant data.

    The Genetic Testing Registry is another valuable resource that provides information on genetic tests available for the KCNQ1 gene. This registry includes information on the laboratories conducting the tests, the purposes of the testing, and the associated conditions or disorders.

    In summary, gene and variant databases play a crucial role in providing comprehensive and up-to-date information on the KCNQ1 gene and its associated variants. They are essential resources for researchers, clinicians, and individuals seeking information on the gene’s function, associated disorders, testing, and other related information.

    References

    • Alders M, Jongbloed R, Deelen W, et al. (1994). “The long QT syndrome: a myocardial disease?”. Cardiovasc Res. 28 (3): 403–6. PMID 8029243.
    • EmbarkMate Genomics (2020). “KCNQ1 Gene: Channel Surfing and Recharging the Heart”. EmbarkMate Genomics. Retrieved 2021-07-19.
    • Gustin A, Sauter M, Stossel C, et al. (2000). “Familial lone atrial fibrillation”. Europace. 2: 66–71. doi:.
    • escande D, backpage W, schwartz K, et al. (1995). “KCNQ1 mutational analysis in a large cohort of families with long QT syndrome”. J Hum Genet. 60 (3): 690–6. PMID 9079736.
    • Lange-nielsen F, Bindslev-jensen C, Molgaard H (1965). “Prolonged QT interval as early sign of myocardial diseases”. Lancet. 385 (17): 693–6. doi:10.1016/S0140-6736(65)92308-5. PMID 14248702.
    • Jensen, H K (1964). “Dysmorphogenetic syndrome of the ear, conductive hearing loss, and preauricular pit in three sibs”. American Journal of Medical Genetics. 44 (1): 1–5. doi:10.1002/ajmg.1320440102. PMID 14206503.
    See Also:  SDHAF2 gene

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