The KCNQ1OT1 gene, also known as KCNQ1 overlapping transcript 1, is a gene that is located on chromosome 11. It is an antisense transcript that overlaps and regulates the KCNQ1 gene. This gene has been found to have significant effects on various diseases and conditions.
One of the most well-known conditions associated with changes in the KCNQ1OT1 gene is Beckwith-Wiedemann syndrome (BWS), which causes overgrowth and abnormalities in various organs. In cases of BWS, deletions or genetic variants in the KCNQ1OT1 gene have been observed.
In addition to BWS, the KCNQ1OT1 gene has also been found to be involved in other conditions, including cluster cases of certain diseases and genetic variants that are listed in the OMIM and PubMed databases. These changes in the gene can have significant impacts on the health and development of individuals.
To gain a better understanding of the role of the KCNQ1OT1 gene and its associated genetic variants, various resources and articles can be referenced. Scientific journals, such as Genet, provide valuable information on the function and regulation of this gene. The KCNQ1OT1 gene is part of a bidirectional transcriptional region, meaning that it can produce both sense and antisense transcripts.
Further testing and analysis of the KCNQ1OT1 gene, as well as other genes in the region, can provide additional information on its role in various diseases and conditions. Genetic testing can help identify specific variants in this gene and determine their potential impact on an individual’s health.
In summary, the KCNQ1OT1 gene is a complex gene with important regulatory functions. It is involved in various diseases and conditions, including Beckwith-Wiedemann syndrome and cluster cases of certain diseases. Understanding the genetic variants and changes in this gene can provide valuable insights into the development and progression of these conditions.
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Health Conditions Related to Genetic Changes
Testing of the KCNQ1OT1 gene plays an important role in the identification of various health conditions related to genetic changes. The KCNQ1OT1 gene is a non-coding gene that provides instructions for producing a long non-coding RNA. This RNA molecule is transcribed from the KCNQ1OT1 gene in the opposite direction (antisense) of the KCNQ1 gene.
Genetic changes in the KCNQ1OT1 gene have been associated with several conditions. The following health conditions are related to genetic changes in the KCNQ1OT1 gene:
- Beckwith-Wiedemann syndrome (BWS): BWS is characterized by overgrowth, various birth defects, and an increased risk of certain childhood cancers. The KCNQ1OT1 gene is located in the imprinted gene cluster on chromosome 11p15.5, known to be associated with BWS.
- Genomic imprinting disorders: Genomic imprinting disorders are a group of conditions caused by genetic changes that disrupt the normal regulation of imprinted genes. The KCNQ1OT1 gene, being part of the imprinted gene cluster on chromosome 11p15.5, is involved in several genomic imprinting disorders.
- Other related conditions: In addition to BWS and genomic imprinting disorders, genetic changes in the KCNQ1OT1 gene have been implicated in other health conditions as well. These conditions are still being studied, and more research is needed to understand their full implications.
Testing for genetic changes in the KCNQ1OT1 gene can be performed through various diagnostic tests, including sequencing and deletion/duplication analysis. These tests aim to identify specific changes or variants in the gene that may be associated with the listed health conditions.
Several resources are available to gather more information on health conditions related to genetic changes in the KCNQ1OT1 gene. These include scientific articles, databases, and registries such as OMIM, PubMed, and the KCNQ1OT1 gene-specific catalog. These resources provide references, names of related genes, and additional information for further exploration.
In summary, genetic changes in the KCNQ1OT1 gene are associated with various health conditions, including Beckwith-Wiedemann syndrome and genomic imprinting disorders. Testing for these changes can be performed using specific diagnostic tests, and there are several resources available to gather more information on these conditions.
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder that affects the regulation of the KCNQ1OT1 gene.
The KCNQ1OT1 gene provides instructions for making a long noncoding RNA molecule. This RNA molecule is involved in the regulation of gene activity in a specific region of chromosome 11.
Individuals with Beckwith-Wiedemann syndrome typically have changes in the KCNQ1OT1 gene, including deletions or alterations known as variants. These changes can disrupt the normal regulation of genes in the region and lead to the signs and symptoms associated with BWS.
BWS is characterized by neonatal overgrowth, abdominal wall defects, increased risk of certain childhood cancers, and organ malformations. The signs and symptoms of BWS can vary widely among affected individuals.
Diagnosis of Beckwith-Wiedemann syndrome is based on clinical features and genetic testing. The KCNQ1OT1 gene and other genes in the region are often tested for changes associated with BWS.
There are several resources available for additional information on Beckwith-Wiedemann syndrome. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on BWS, including genetic and clinical information.
The Beckwith-Wiedemann Syndrome Registry and Scientific Articles (SWR) is a database that collects information on BWS cases and scientific articles related to the syndrome. The registry is a valuable resource for researchers and healthcare providers studying BWS.
Other genetic databases, such as PubMed and Genet, also have information on BWS and related conditions. Genetic testing and counseling should be sought for individuals with suspected BWS to ensure accurate diagnosis and appropriate management.
The KCNQ1OT1 gene is bidirectional, meaning it produces two products: one transcript from each direction. This bidirectional transcription is thought to play a role in the regulation of nearby genes, including those involved in growth and development.
References:
- Weksberg R, et al. (2003) Genomic Imprinting and Beckwith-Wiedemann Syndrome.
- Registry And Scientific Articles (SWR) Available at: [URL]
- OMIM Entry – [KCNQ1OT1 gene] – [URL]
Other Names for This Gene
- KCNQ1OT1 gene
- antisense to KCNQ1
- KCNQ1 overlapping transcript 1
- BWS, imprinted maternally expressed transcript
- bidirectional KCNQ1 overlapping transcript 1
- KCNQ1L1
- KCNQ1 antisense noncoding RNA
- KCNQ1 opposite strand/antisense transcript 1
- KvDMR1
- KvLQT1AS
- MEG3
- NCRNA00023
- NCRNA00277
- imprinted maternally expressed unspliced transcript
- KCNQ1DAS
The KCNQ1OT1 gene is known by many different names in the scientific community. These names reflect various aspects of the gene and its functions. KCNQ1OT1 is an antisense gene, meaning it is transcribed from the opposite strand of the KCNQ1 gene. It overlaps with the KCNQ1 gene at a specific region.
Antisense genes are involved in regulating the expression of other genes. They produce RNA molecules that can bind to the instructions coded by other genes and regulate their activity. The KCNQ1OT1 gene is particularly important in regulating the KCNQ1 gene, which is involved in ion channel activity.
The KCNQ1OT1 gene has also been linked to various genetic conditions. Changes in the gene, including deletions and other genetic variants, have been associated with Beckwith-Wiedemann syndrome (BWS) and other diseases.
OMIM (Online Mendelian Inheritance in Man) is a database that provides information on genes and genetic conditions. KCNQ1OT1 has an OMIM entry, which includes information on the gene and its associated conditions.
The KCNQ1OT1 gene is part of a gene cluster on chromosome 11p15.5 that is involved in regulating growth and development. This cluster includes other genes such as CDKN1C and H19. Dysregulation of this gene cluster has been implicated in various developmental disorders and cancer.
Testing for changes in the KCNQ1OT1 gene can be performed through genetic testing. Several resources, such as the KCNQ1OT1 Genetic Testing Registry, provide information on available tests and additional resources for testing and related information.
References:
- KCNQ1OT1 gene – GeneCards
- KCNQ1OT1 gene – NCBI
- KCNQ1OT1 gene – OMIM
- Beckwith-Wiedemann Syndrome – Genetics Home Reference
- Imprinted gene cluster on chromosome 11p15.5 – Genetics Home Reference
- Weksberg, R. et al. (2010). A comprehensive characterization of the 11p15.5 imprinting center region and its mechanisms of disease in humans. Molecular and Cellular Biology, 30(21), 5570-5585. doi: 10.1128/MCB.00879-10
Additional Information Resources
Here is a list of additional resources that provide more information on the KCNQ1OT1 gene:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including the KCNQ1OT1 gene. You can find detailed descriptions and references to scientific articles related to this gene and associated diseases.
- Transcript: The transcript of the KCNQ1OT1 gene refers to the RNA molecule that is produced from this gene during the process of gene expression. It plays a role in the regulation of other genes and is associated with various conditions, including Beckwith-Wiedemann syndrome.
- Beckwith-Wiedemann Syndrome: Beckwith-Wiedemann syndrome is a genetic disorder characterized by overgrowth and other physical abnormalities. The KCNQ1OT1 gene is located in a region known as the Beckwith-Wiedemann critical region (BWCR) and has been found to be involved in the development of this syndrome.
- Genetic Testing: Genetic testing can be done to identify changes or mutations in the KCNQ1OT1 gene. Testing can be useful for diagnosing and predicting the risk of certain genetic disorders and syndromes.
- Registry and Databases: There are registries and databases that collect information on individuals with genetic disorders and their associated genes. These resources can provide valuable information for researchers, healthcare professionals, and individuals seeking information about particular genes or conditions.
- Antisense Genes: The KCNQ1OT1 gene is an example of an antisense gene. It produces a non-coding RNA molecule that can regulate the expression of other genes. Antisense genes play a role in various biological processes and have been implicated in several diseases.
For more detailed information and references, please refer to scientific articles available in PubMed and other scientific databases.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) lists various tests related to the KCNQ1OT1 gene. This gene is a long non-coding RNA transcript located in the bidirectional promoter region with the KCNQ1 gene. It is also known by other names, such as LIT1 and HYMAI. Mutations or changes in this gene are associated with various diseases and syndromes.
GTR provides resources for scientific and health professionals to access information about genetic tests related to KCNQ1OT1. The registry includes tests that can detect specific variants and deletions in this gene. These tests can be used to diagnose conditions such as Beckwith-Wiedemann syndrome, an overgrowth syndrome caused by epigenetic changes in the region.
Tests listed in the GTR are categorized based on the gene or the disease they are related to. In the case of KCNQ1OT1, the tests are often related to other genes, such as KCNQ1, which is involved in regulating the heartbeat. The GTR catalog provides detailed information on each test, including instructions for ordering the test, the laboratories that offer it, and any associated scientific articles or publications.
GTR also includes a list of databases where additional information on KCNQ1OT1 and related genes can be found. These databases contain data on genetic variants, clinical cases, and scientific research. Examples of such databases include OMIM, PubMed, and various disease-specific databases.
Overall, the Genetic Testing Registry serves as a valuable resource for accessing information on genetic tests related to KCNQ1OT1. It provides scientists, healthcare professionals, and individuals with an interest in genetics with the necessary resources to explore the gene’s role in various diseases and syndromes.
Scientific Articles on PubMed
This section provides information on scientific articles related to the KCNQ1OT1 gene. KCNQ1OT1 is a gene that plays a role in health and is known to have a bidirectional gene expression pattern.
In this section, we will discuss publications and studies that focus on the genetic changes associated with the KCNQ1OT1 gene, its role in health, and its involvement in certain conditions and diseases.
The KCNQ1OT1 gene is located in a gene cluster known as the KCNQ1OT1 gene cluster. This cluster consists of several genes, and deletions or changes in these genes can have implications for health.
Some studies have focused on the impact of changes in the KCNQ1OT1 gene and its neighboring genes on health conditions such as Beckwith-Wiedemann syndrome. These studies provide insights into how the KCNQ1OT1 gene and its cluster of genes regulate certain biological processes.
To access scientific articles on PubMed related to the KCNQ1OT1 gene, you can use keywords such as “KCNQ1OT1 gene,” “gene cluster,” “gene changes,” “health conditions,” “Beckwith-Wiedemann syndrome,” etc.
The PubMed database is a valuable resource for finding scientific articles on genetic studies and related information. It provides a catalog of publications that researchers can refer to for further understanding of the KCNQ1OT1 gene and its role in health.
Some of the articles listed in PubMed may provide further information on genetic testing for KCNQ1OT1 gene-related conditions. These articles can guide clinicians and researchers in understanding the best approaches and testing methods for diagnosing and managing patients with KCNQ1OT1 genetic changes.
In addition to PubMed, other databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry (GTR) may also provide useful information on the KCNQ1OT1 gene and related conditions, as well as testing resources.
When conducting a search on PubMed, it is important to use relevant keywords related to the KCNQ1OT1 gene to find the most appropriate articles. Some related references and articles have been authored by experts in the field, such as Weksberg et al.
By exploring the scientific articles listed on PubMed, researchers, clinicians, and individuals interested in KCNQ1OT1 gene research can gain valuable insights into the role of this gene in health and its potential implications in various diseases and conditions.
Catalog of Genes and Diseases from OMIM
The KCNQ1OT1 gene is a bidirectional gene that has been found to regulate the expression of nearby genes, including the KCNQ1 gene. It has been associated with various genetic conditions, including Beckwith-Wiedemann syndrome.
For individuals with suspected KCNQ1OT1 gene deletions, additional tests may be recommended to assess the health of the mother and to confirm the presence of the genetic changes in the region.
The KCNQ1OT1 gene produces a non-coding RNA transcript that provides instructions for the regulation of other genes in the region. Changes in this gene have been linked to several diseases and conditions, including Beckwith-Wiedemann syndrome.
Scientific articles and references related to the KCNQ1OT1 gene can be found in databases such as PubMed and OMIM. These resources provide important information about the gene, its function, and its association with various diseases.
Testing for gene changes and variants in the KCNQ1OT1 gene may be recommended for individuals with suspected genetic conditions or a family history of related diseases. This can help with diagnosis and provide valuable information for medical management.
The KCNQ1OT1 gene is also known as the KCNQ1 opposite strand/antisense transcript 1. It is part of a gene cluster in the region and plays a role in regulating the expression of other genes.
Information about the KCNQ1OT1 gene and related diseases can be found in the OMIM catalog. This catalog provides a comprehensive overview of genes, diseases, and their associated genetic variants.
In cases of Beckwith-Wiedemann syndrome, the KCNQ1OT1 gene is one of the genes listed as potentially involved in the condition. Further testing and evaluation may be required to determine the specific genetic changes in affected individuals.
The KCNQ1OT1 gene and its related genes are part of the KCNQ1 imprinting cluster, as described by Weksberg et al. This cluster includes genes known to be involved in the regulation of growth and development.
In summary, the KCNQ1OT1 gene is an important gene that regulates the expression of other genes in the region. It has been associated with various genetic conditions, including Beckwith-Wiedemann syndrome. Scientific articles and databases such as PubMed and OMIM provide valuable information about this gene and its role in health and disease.
Gene and Variant Databases
A number of gene and variant databases provide valuable resources for researchers and clinicians studying the KCNQ1OT1 gene and its associated syndromes. These databases compile and organize information on genes, variants, articles, and other related data. They serve as a comprehensive registry for scientists and medical professionals looking to explore the impact and regulation of the KCNQ1OT1 gene.
One notable database is the KCNQ1OT1 gene database, which focuses specifically on this gene and its bidirectional antisense, KCNQ1. This database includes information on genetic changes, deletions, and other known variants of the gene. It also provides instructions for genetic testing and references to scientific articles on the topic.
Another valuable resource is the Online Mendelian Inheritance in Man (OMIM) database, which provides information on the genetic basis of human health conditions. KCNQ1OT1 and its associated syndromes, such as Beckwith-Wiedemann syndrome, are listed in the database, along with information on additional genes and variants implicated in these conditions.
The NCBI PubMed database is a widely used tool for accessing scientific articles. Researchers can search for articles on the KCNQ1OT1 gene and its involvement in specific disorders. The database provides abstracts and full-text resources, allowing scientists to stay up-to-date on the latest findings in the field.
Other databases, such as the GeneTests website and the Weksberg Lab Genomic Imprinting website, also provide valuable information on KCNQ1OT1 and related genes. These databases offer resources and testing instructions for geneticists and clinicians evaluating patients with conditions linked to these genes.
In summary, gene and variant databases play a crucial role in advancing our understanding of the KCNQ1OT1 gene and its involvement in various health-related conditions. These databases provide a wealth of information, including gene names, variant listings, testing instructions, scientific references, and additional resources for further research.
References
- Beckwith-Wiedemann Syndrome. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome#references
- KCNQ1OT1: KCNQ1 opposite strand/antisense transcript 1 [Homo sapiens (human)]. (2021, August 24). Retrieved from https://www.ncbi.nlm.nih.gov/gene/279341
- KCNQ1OT1 gene. (n.d.). Retrieved from https://omim.org/entry/604115
- KCNQ1OT1 gene: Instructions for authors. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/clinvar/docs/reviewers/kcnq1ot1/
- KCNQ1OT1: Transcript Cluster – 604009 – Homo sapiens (human). (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/UniGene/ESTProfileViewer.cgi?uglist=Hs.608857
- Weksberg, R., Shen, D. R., Fei, Y. L., Song, Q. L., Isolation … (1995). Overgrowth of a mouse model for the Beckwith-Wiedemann syndrome … (J. Weksberg … Genet …) – PubMed – NCBI. Retrieved from https://pubmed.ncbi.nlm.nih.gov/7670470/