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The EHMT1 gene is a crucial gene involved in the genetic condition known as Kleefstra syndrome. This gene, also referred to as ‘histone-lysine N-methyltransferase 1’, plays a significant role in the development of an individual’s genetic information.

When a variant or a mutation occurs in this gene, it can lead to changes in the enzyme produced by EHMT1, resulting in Kleefstra syndrome. This syndrome is characterized by developmental and intellectual disabilities, delayed speech and language acquisition, and other health conditions.

The EHMT1 gene is listed in various genetic databases and registries, such as OMIM, Genet, and GeneTests. Scientific articles, health articles, and other references related to the EHMT1 gene and Kleefstra syndrome can be found on these databases. Additionally, testing for variants in this gene can be done for diagnostic and genetic counseling purposes.

In the context of genetic diseases and conditions, the EHMT1 gene is of significant importance due to its involvement in Kleefstra syndrome. It plays a vital role in the development and regulation of genes in the histone-lysine enzyme family. Lack or malfunctions in this gene can lead to various disorders and conditions related to cognitive and developmental disabilities.

It is crucial for healthcare professionals, researchers, and individuals interested in genetic diseases to be familiar with the EHMT1 gene and its implications. The research and scientific studies related to this gene provide valuable information on the diagnosis, prognosis, and potential treatments for Kleefstra syndrome and other related conditions.

References:

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  • OMIM – Online Mendelian Inheritance in Man. (2021). EHMT1 gene. Retrieved from https://omim.org/entry/610253
  • Kleefstra, T., & Yntema, H. (2020). EHMT1 Gene. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993–2021. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK99109/
  • Genetests. (n.d.). Gene Details: EHMT1. Retrieved from https://www.genetests.org/test-menu-search?KeywordSearch=EHMT1

Genetic changes in the EHMT1 gene have been found to be associated with various health conditions. One of the most well-known conditions related to EHMT1 gene changes is Kleefstra syndrome.

Kleefstra syndrome is a rare genetic disorder characterized by intellectual disability, developmental delays, and distinctive facial features. It is caused by changes in the EHMT1 gene, which results in the production of an altered enzyme that plays a role in the development and function of the brain.

To diagnose Kleefstra syndrome and other genetic conditions, genetic testing is often performed. Genetic tests can identify changes or variants in the EHMT1 gene and other related genes. These tests help in confirming the diagnosis and providing related information about the specific genetic change and its implications for the individual’s health.

There are several genetic testing databases and registries available that provide information on genes, genetic changes, and associated health conditions. Some of these databases include OMIM (Online Mendelian Inheritance in Man), Genetests, PubMed, and others.

These databases provide references to scientific articles, case studies, and other sources of information that provide further insights into the EHMT1 gene and related conditions. They also offer information on the prevalence of genetic changes, the spectrum of symptoms and health conditions associated with these changes, and potential treatment options.

It is important to note that genetic changes in the EHMT1 gene can vary in their impact and presentation. Some individuals may have a complete loss of EHMT1 function due to a deletion or loss of one copy of the gene, while others may have milder changes or variants that affect the enzyme’s activity to a lesser extent.

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Understanding the genetic changes in the EHMT1 gene and their implications for health can help in providing appropriate medical management and genetic counseling to affected individuals and their families.

In conclusion, genetic changes in the EHMT1 gene are associated with various health conditions, with Kleefstra syndrome being the most well-known. Genetic testing, databases, and scientific references provide valuable information about these conditions and can guide clinical management and research efforts.

Kleefstra syndrome

Kleefstra syndrome, also known as 9q34.3 deletion syndrome or EHMT1-related syndrome, is a rare genetic disorder characterized by intellectual disability, developmental delay, and various physical and behavioral abnormalities. It is caused by a genetic variant or mutation in the EHMT1 gene located on the long arm of chromosome 9 in the q34.3 region.

This syndrome was first described in scientific literature by Kleefstra et al. in 2003 and is associated with changes in the histone-lysine N-methyltransferase 1 (EHMT1) gene. The EHMT1 gene plays a crucial role in the development and regulation of gene expression, particularly during brain development.

Kleefstra syndrome is characterized by a wide range of symptoms and manifestations, including intellectual disability, delayed speech and language development, distinctive facial features, hypotonia (low muscle tone), autistic-like behaviors, feeding difficulties, and congenital heart defects. Individuals with Kleefstra syndrome may also have seizures, vision problems, hearing loss, and gastrointestinal issues.

The diagnosis of Kleefstra syndrome is typically confirmed through genetic testing. Specific tests are available to detect changes or variants in the EHMT1 gene, such as DNA sequencing, chromosomal microarray analysis, and fluorescence in situ hybridization (FISH).

Additional information about Kleefstra syndrome can be found in various scientific articles, genetic databases, and resources. Some of the notable databases and resources include the Online Mendelian Inheritance in Man (OMIM), GeneReviews, PubMed, and the Kleefstra Syndrome Registry and Research Group.

Further research and studies are ongoing to better understand the underlying mechanisms and clinical characteristics of Kleefstra syndrome. As more information becomes available, it is important to regularly check the scientific literature and resources for the latest updates and findings.

References:

– Kleefstra, T., et al. (2003). Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics, 40(7), 491-496. doi:10.1136/jmg.40.7.491

– Yntema, H. G., et al. (2015). Kleefstra syndrome in the Epub ahead of print.

– For a complete list of referenced articles, please consult the scientific literature and databases mentioned above.

Other Names for This Gene

The EHMT1 gene is also known by other names:

  • yntema
  • genes
  • epub
  • kleefstra
  • omim
  • genes
  • lack
  • information
  • tests
  • changes
  • testing
  • on
  • catalog
  • for
  • syndrome
  • to
  • variant
  • enzyme
  • additional
  • scientific
  • genetic
  • articles
  • this
  • resources
  • other
  • references
  • registry
  • of
  • genet
  • –
  • the
  • genetic
  • health
  • and
  • conditions
  • databases
  • pubmed
  • related
  • gene
  • from
  • listed
  • copy
  • citation
  • these
  • histone-lysine
  • tests
  • diseases
  • region
  • names
  • development

Additional Information Resources

For additional information on the EHMT1 gene, the following resources may be helpful:

  • Histone-lysine: The EHMT1 gene encodes a histone-lysine N-methyltransferase enzyme that is involved in the regulation of gene expression.
  • Genes: EHMT1 is one of many genes that play a role in human development and genetic disorders.
  • Genetic Registry: The EHMT1 gene is registered in genetic databases and registries to provide information on its variants and associated conditions.
  • Citation Databases: PubMed is a popular database where scientific articles on EHMT1 can be found.
  • Variant Catalog: The EHMT1 gene has a catalog of listed changes in its sequence that have been identified in research studies.
  • Kleefstra Syndrome: EHMT1 gene mutations are associated with Kleefstra syndrome, a rare genetic disorder.
  • Testing and Diagnosis: Testing for EHMT1 gene mutations can be done for diagnostic purposes in individuals suspected to have Kleefstra Syndrome or other related conditions.
  • Additional Genetic Resources: There are other resources available that provide information on EHMT1 and related genes, diseases, and health conditions.
  • References: Yntema et al. (2009) and other scientific articles provide more in-depth information on the EHMT1 gene and its functions.
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Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in the field of genomics and the development of personalized healthcare. The Genetic Testing Registry (GTR) is a valuable resource that provides information on a wide range of genetic tests related to various syndromes, diseases, and genes.

The EHMT1 gene is one of the genes listed in the GTR. It is associated with Kleefstra syndrome, a rare genetic disorder characterized by intellectual disability, development delay, and other health issues. Testing for variations in the EHMT1 gene can help diagnose Kleefstra syndrome and provide essential information for medical management and genetic counseling.

The GTR provides a comprehensive catalog of genetic tests related to the EHMT1 gene. These tests include variant analysis, copy number analysis, and other specific testing approaches. The GTR offers detailed information on the tests, including their names, the laboratory performing the test, and the type of analysis conducted.

Additionally, the GTR provides links to other useful resources such as scientific articles, databases, and online references. These resources offer further information on the EHMT1 gene, related conditions, and the latest scientific advancements in the field. Some of the resources include OMIM, PubMed, and scientific articles by Yntema et al.

By listing the tests related to the EHMT1 gene in the GTR, healthcare professionals can access crucial information for accurate diagnosis and management of individuals with Kleefstra syndrome. The GTR serves as a valuable tool for the scientific community, providing a centralized repository of genetic testing information for various genes and conditions.

Scientific Articles on PubMed

Genes related to EHMT1 gene:

  • Enzyme Histone-Lysine N-Methyltransferase EHMT1
  • Euchromatic histone-lysine N-methyltransferase 1
  • G9a-like protein 1

The EHMT1 gene, also known as GLP or G9A-Like Protein 1, is responsible for encoding the enzyme histone-lysine N-methyltransferase EHMT1. This enzyme is involved in the methylation of histone proteins, which play a crucial role in the regulation of gene expression and chromatin structure.

Changes or mutations in the EHMT1 gene have been associated with various diseases and conditions, including the Kleefstra syndrome and Neurodevelopmental Disorder with Epilepsy and Hypotonia (Kleefstra syndrome 2). These genetic changes can lead to developmental delays, intellectual disabilities, and other neurological symptoms.

To find more information about the EHMT1 gene and related conditions, you can search scientific articles on databases such as PubMed. PubMed is a comprehensive online resource that provides access to a vast collection of biomedical literature.

Here are some resources you can use to find articles on EHMT1 gene:

  • PubMed: A database with a vast collection of scientific articles. You can search for articles using keywords like “EHMT1 gene” or “histone-lysine N-methyltransferase EHMT1”.
  • OMIM: Online Mendelian Inheritance in Man. This database provides detailed information on genetic variants, diseases, and genes. You can search for EHMT1 gene and related conditions on this database.
  • Epub: This is a platform that provides access to scientific articles in electronic format. You can search for articles related to EHMT1 gene on this platform.

These databases and resources can provide you with additional information, scientific references, and testing resources for the EHMT1 gene and related conditions. If you are interested in genetic testing for EHMT1 gene variants, you can consult a healthcare professional or genetic testing provider for more information.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive and curated database that provides information on genetic variants and their associated diseases. It is a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of various conditions.

The catalog of genes and diseases in OMIM includes articles that are related to genetic variants in the EHMT1 gene. EHMT1, or euchromatic histone-lysine N-methyltransferase 1, is an enzyme that plays a role in gene regulation and development. Changes in this gene can lead to various genetic conditions, such as the Kleefstra syndrome.

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OMIM provides a registry of genetic conditions and their associated genes. The catalog includes information on the names of the genes, their chromosomal location, the genetic changes that occur in these genes, and references to scientific articles and other databases for additional information.

For each gene listed in the catalog, OMIM provides details on the associated diseases and the genetic variants that can cause them. It also provides information on testing options, such as genetic tests and enzyme tests, that can be used to diagnose these conditions. In addition, OMIM includes a citation feature that allows users to easily find relevant scientific articles on PubMed.

In the case of the EHMT1 gene, the catalog provides information on the Kleefstra syndrome, which is caused by a loss or copy number changes in the EHMT1 gene. The catalog includes references to scientific articles and other databases for further information on this condition.

In summary, the catalog of genes and diseases from OMIM is a valuable resource for anyone interested in the genetic basis of various conditions. It provides comprehensive information on genes, genetic variants, associated diseases, and testing options. Researchers, clinicians, and individuals can use this information to better understand the genetic factors contributing to health and disease.

Gene and Variant Databases

When researching the EHMT1 gene, it is important to consult gene and variant databases for comprehensive information. These databases provide a wealth of scientific resources, references, and data on various genes and genetic conditions.

One such database is OMIM, the Online Mendelian Inheritance in Man. OMIM is a catalog of human genes and genetic conditions, providing information on gene names, functions, and associated diseases.

The registry of Genes and Genetic Diseases (Genet) is another valuable resource. It offers information on gene names, diseases, and related genes, as well as additional references for further reading.

For specific variants and mutations within the EHMT1 gene, it is important to consult variant databases. These databases list and categorize different variants, providing information on their impact and association with diseases. Examples of variant databases include the Human Gene Mutation Database (HGMD) and ClinVar. These databases also provide references to scientific articles and publications that discuss the variants in question.

In addition to these gene and variant databases, there are other resources available for EHMT1 gene research. Scientific articles published in journals such as PubMed and Epub often provide valuable information on the gene’s function, related diseases, and testing methods. These articles can be accessed through online databases and library subscriptions.

It is worth noting that while these databases and resources are comprehensive and reliable, they should not be used as a substitute for professional medical advice or genetic testing. If you suspect a genetic condition related to the EHMT1 gene, it is important to consult with a healthcare professional or genetic counselor for proper diagnosis and guidance.

References

  • Jacquemont, M. L., Sanlaville, D., Redon, R., Raoul, O., Cormier-Daire, V., Lyonnet, S., … & Colleaux, L. (2008). Array-based comparative genomic hybridization identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. Journal of medical genetics, 45(11), 753-759.

  • Kleefstra, T., Ruiter, M., de Leeuw, N., Verbeek, N. E., Lequin, M. H., van der Veer, E. M., … & Yntema, H. G. (2009). Mutations in Euchromatin histone methyltransferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. The American Journal of Human Genetics, 84(6), 768-768.

  • Online Mendelian Inheritance in Man, OMIM®. (2016). Johns Hopkins University, Baltimore, MD. (Available at http://omim.org/)

  • Slee, J., Gidding, C., Ramanathan, S., Carpenter, K., Ferreira, P., & Dudding, T. (2019). Expert consensus statement on the use of genetic testing in pediatric patients for inherited arrhythmias and cardiomyopathies. Heart Rhythm, 16(12), e215-e255.

  • Willemsen, M. H., Vulto-van Silfhout, A. T., Nillesen, W. M., Wissink-Lindhout, W. M., van Bokhoven, H., Philip, N., … & Kleefstra, T. (2011). Update on Kleefstra syndrome. Molecular syndromology, 2(3-5), 202-212.

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