The HDAC8 gene is an X-linked gene that is associated with Cornelia de Lange Syndrome (CdLS), a genetic disorder characterized by a range of physical, cognitive, and behavioral abnormalities. The HDAC8 gene encodes a histone deacetylase, a protein that plays a key role in the regulation of gene expression by modifying the structure of chromatin.

Changes in the HDAC8 gene have been found in a subset of individuals with CdLS, suggesting that alterations in HDAC8 function may contribute to the development of this condition. Genetic testing of the HDAC8 gene is available to confirm a diagnosis of CdLS in individuals who exhibit symptoms of the disorder.

In addition to CdLS, changes in the HDAC8 gene have been associated with other related disorders and conditions. Scientific studies have identified variations in the HDAC8 gene in individuals with intellectual disabilities, developmental delays, and other phenotypic features that overlap with CdLS. Further research is needed to fully understand the role of the HDAC8 gene in these conditions.

References to the HDAC8 gene can be found in scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide comprehensive information on the genetic and molecular characteristics of the HDAC8 gene, as well as its involvement in various disorders and diseases.

The HDAC8 gene is part of a larger complex of genes that are involved in the regulation of gene expression. This complex includes other deacetylase genes and genes associated with CdLS, such as NIPBL and SMC1A. Further investigation into the interactions between these genes may shed light on the underlying mechanisms of CdLS and related disorders.

Genetic testing for changes in the HDAC8 gene can be performed in specialized laboratories and clinics. These tests can help diagnose CdLS and other conditions that may be associated with alterations in HDAC8 function. The results of genetic testing can provide valuable information for medical professionals, researchers, and families affected by these conditions.

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In conclusion, the HDAC8 gene is an important gene involved in the regulation of gene expression and is associated with Cornelia de Lange Syndrome and other related disorders. Understanding the function and role of the HDAC8 gene can provide valuable insights into the molecular basis of these conditions, leading to improved diagnostic and therapeutic approaches.

Health Conditions Related to Genetic Changes

Genetic changes in the HDAC8 gene have been associated with various health conditions and disorders. HDAC8, a member of the histone deacetylase family, plays a crucial role in the regulation of gene expression and cell growth. Defects in HDAC8 can lead to a range of diseases and syndromes.

Cornelia de Lange syndrome, for example, is a rare genetic disorder caused by mutations in HDAC8. It is characterized by distinctive facial features, intellectual disability, and developmental delays. The mutation in HDAC8 affects the normal function of the gene and leads to the manifestation of this syndrome.

In addition to Cornelia de Lange syndrome, changes in the HDAC8 gene have also been linked to other conditions and disorders. The Online Mendelian Inheritance in Man (OMIM) database lists a large number of scientific articles and references related to HDAC8 and its role in various diseases.

Further research and testing are required to fully understand the impact of genetic changes in HDAC8 on human health. Through resources such as the OMIM database, researchers and clinicians can gather information on the variant genes, health conditions, and disorders associated with HDAC8.

Testing for genetic changes in the HDAC8 gene can be an important diagnostic tool for individuals with suspected health conditions related to its dysfunction. Genetic testing can help confirm or rule out a genetic variant, providing valuable information for the management and treatment of the condition.

Various databases and registries are available to provide information on genes and genetic changes associated with specific health conditions. These resources include the Human Gene Mutation Database (HGMD), the ClinGen Variant Curation Expert Panel, and the Genetic Testing Registry (GTR).

By compiling data from scientific articles, databases, and testing resources, researchers and healthcare professionals can gain a better understanding of the relationship between HDAC8 genetic changes and the resulting health conditions. This knowledge is crucial for the development of targeted therapies and interventions for individuals with these conditions.

It is important to note that changes in the HDAC8 gene are just one of many genetic factors that can contribute to health conditions and disorders. Genetic testing and analysis should be conducted in conjunction with clinical evaluation and consideration of other genetic and environmental factors.

Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a complex genetic disorder characterized by a range of physical, cognitive, and behavioral abnormalities. It is caused by variants in several genes, including the HDAC8 gene.

HDAC8 is involved in the regulation of gene expression and plays an important role in the development of various organs and tissues in the body. Variants in this gene can lead to the development of CdLS and other related conditions.

Diagnosis of CdLS often involves a combination of clinical evaluation, genetic testing, and imaging tests. Genetic testing can help identify changes in the HDAC8 gene or other genes associated with the syndrome.

There are several resources available for individuals and families affected by CdLS. These include the Cornelia de Lange Syndrome Foundation and the CdLS International Registry. These organizations provide information on the disorder, support services, and resources for affected individuals and their families.

For additional scientific and medical information on CdLS and the HDAC8 gene, references and publications can be found in scientific databases such as PubMed and OMIM. Researchers such as Dr. Ian D. Clark and Dr. Matthew A. Deardorff have made significant contributions to the study of CdLS and the HDAC8 gene.

In summary, Cornelia de Lange syndrome is a genetic disorder caused by variants in genes such as HDAC8. Diagnosis involves genetic testing and clinical evaluation. Resources and support are available for individuals and families affected by this condition.

1. Clark, I. D., et al. (2012). Cornelia de Lange syndrome: an update. Current opinion in pediatrics, 24(6), 666-671.
2. Deardorff, M. A., et al. (2012). HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature, 489(7415), 313-317.

Other disorders

In addition to Cornelia de Lange syndrome (CdLS), the HDAC8 gene is associated with several other disorders. These disorders are rare and often have overlapping features with CdLS.

• X-linked syndromes: Some changes (variants) in the HDAC8 gene have been found to cause X-linked intellectual disability (XLID). XLID is a group of genetic conditions characterized by significant intellectual deficits.
• De Lange-like syndrome: This disorder is similar to CdLS but does not meet all the diagnostic criteria for CdLS. It is characterized by developmental delays, intellectual disability, and distinctive facial features.
• Other complex conditions: The HDAC8 gene has also been implicated in a range of other complex conditions, including neurodevelopmental disorders, heart defects, and cancer.

Further research is required to understand the exact role of the HDAC8 gene in these disorders and the specific changes that lead to their development. Currently, there are ongoing studies and scientific investigations into the regulation and function of HDAC8 in different diseases.

For more information on these disorders and the HDAC8 gene, various resources are available including genetic testing labs, databases, and scientific articles. The Online Mendelian Inheritance in Man (OMIM) and PubMed are two valuable sources that provide additional names, genes, and references related to HDAC8 and associated conditions.

These resources can provide valuable information and support for individuals, families, and healthcare professionals involved in the diagnosis and management of CdLS and other conditions associated with the HDAC8 gene.

Other Names for This Gene

The HDAC8 gene, also known as the “histone deacetylase 8” gene, has several other names. These alternative names are often used in different genetic and health resources, such as registries, condition-specific databases, and testing centers. Some of the other names for the HDAC8 gene are:

• Hullings syndrome
• Lage and Clark syndrome
• Langer-Giedion syndrome
• OMIM entry – HDAC8 gene
• Deardorff syndrome
• Cornelia de Lange syndrome

The HDAC8 gene is associated with various disorders and conditions, and its role in the complex regulation of genes and cells has been extensively studied. It has been linked to X-linked genetic conditions and variants, such as Hullings syndrome and Deardorff syndrome. The scientific and medical communities have published numerous articles and references discussing the HDAC8 gene and its related disorders.

For additional information, scientific articles, and references about the HDAC8 gene and related disorders, you can refer to resources such as the PubMed database and the Online Mendelian Inheritance in Man (OMIM) catalog. These databases provide valuable information on the gene, its functions, associated disorders, and testing options.

Additional Information Resources

When researching the HDAC8 gene and related disorders, it can be helpful to consult additional resources. Here are some useful sources of information:

• Online Mendelian Inheritance in Man (OMIM) database: OMIM provides comprehensive information on genes, genetic conditions, and related disorders. The HDAC8 gene and related conditions are listed in this database, along with additional details and references for further research.
• PubMed: PubMed is a large database of scientific articles on various health topics. It can be used to find scientific studies and publications related to the HDAC8 gene, Cornelia de Lange syndrome, and other related conditions.
• The Deardorff Lab: The Deardorff Lab at The Children’s Hospital of Philadelphia conducts research on Cornelia de Lange syndrome and other related disorders. Their website provides additional information on HDAC8 gene testing, variant changes, and other latest findings in this field.
• The Hullings Knowledge Center: The Hullings Knowledge Center is a resource center that provides information and support for families affected by Cornelia de Lange syndrome and related conditions. They offer educational materials, articles, and resources on genetic testing, gene regulation, and other topics.
• The Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences that provides reliable information on genetic and rare diseases. They offer a registry of rare diseases and related support organizations, which may provide further information on HDAC8 gene disorders.

These resources can help you delve deeper into the HDAC8 gene and related disorders, find information on genetic testing, gene regulation, and other aspects of these conditions. Remember to consult credible sources and verify the information you find to ensure accuracy.

Tests Listed in the Genetic Testing Registry

The following tests are listed in the Genetic Testing Registry, which provides information on genetic tests for this condition and related genes. These tests can be used to diagnose or confirm the presence of changes in the HDAC8 gene that are associated with Cornelia de Lange syndrome 5 (CDLS5), a rare X-linked genetic disorder characterized by intellectual disability, developmental delay, and distinctive facial features.

• Test Name: HDAC8 Gene Sequencing
• Test Method: DNA sequencing of the HDAC8 gene
• Test Availability: Commercially available
• Test Purpose: To detect changes (variants) in the HDAC8 gene that may cause or predispose individuals to CDLS5
• Test Category: Diagnostic

  Note: Other laboratory and genetic tests may be available for this condition and related genes.

Additional information on these tests can be found on the Genetic Testing Registry website.

For scientific articles related to HDAC8 gene regulation and the association with the Cornelia de Lange syndrome and other related disorders, relevant publications can be found on PubMed, a database of scientific articles in the field of health and medicine.

Other valuable resources to explore include Online Mendelian Inheritance in Man (OMIM), which provides information on genes and their associated conditions, and the Human Gene Mutation Database (HGMD), which catalogues known genetic variants in human genes.

These resources offer a wealth of information on the HDAC8 gene, its variants, and the associated diseases and conditions, facilitating research, diagnosis, and genetic testing for individuals with suspected or confirmed CDLS5 or related conditions.

Scientific Articles on PubMed

• Additional scientific articles on the topic of the HDAC8 gene can be found on PubMed, a comprehensive database of biomedical literature.
• These articles provide valuable information about the gene, its role in various conditions, and the latest research findings.
• Patients and medical professionals can access this wealth of knowledge to stay up-to-date on the latest advancements in the field.
• PubMed contains articles related to the HDAC8 gene and its association with specific disorders such as Cornelia de Lange syndrome.
• Researchers can also find information on testing for variants of the HDAC8 gene and its impact on health and diseases.
• Articles listed on PubMed cover a wide range of topics, including changes in gene regulation, the role of HDAC8 in different cells, and the impact of HDAC8 on complex genetic disorders.
• The articles published on PubMed are a valuable resource for those interested in studying the HDAC8 gene and related conditions.
• References from these articles can be used to explore further research on the topic.
• Other databases, such as OMIM, also provide a large catalog of genes and related diseases, including the HDAC8 gene.
• OMIM is an invaluable resource for genetic researchers and clinicians seeking information on specific genes, disorders, and their associations.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic diseases. It provides information on the genetic basis of various conditions, including the HDAC8 gene and related disorders. OMIM combines scientific articles, genetic testing resources, and databases to offer a valuable resource for researchers, healthcare professionals, and individuals interested in understanding genetic conditions.

The HDAC8 gene is located on the X chromosome and codes for a histone deacetylase, an enzyme involved in the regulation of gene expression. Mutations in the HDAC8 gene can cause various genetic disorders, including Cornelia de Lange syndrome and the related condition known as the Cornelia de Lange-like phenotype.

OMIM lists the names of the genes and the associated diseases or conditions, along with information on genetic testing options, clinical features, and references to scientific articles. The catalog provides a comprehensive overview of the multiple genes and diseases linked to the HDAC8 gene.

1. Cornelia de Lange syndrome (CDLS)

• This condition is characterized by intellectual disability, distinct facial features, and growth abnormalities.
• Changes in the HDAC8 gene have been identified as a major cause of CDLS.
• Testing resources, such as the GeneTests registry, offer diagnostic tests for CDLS.

• This condition shares some clinical features with CDLS but lacks the characteristic facial features.
• Genetic changes in the HDAC8 gene are associated with the Cornelia de Lange-like phenotype.
• Testing for this condition can be done through commercial genetic testing companies or research laboratories.

In addition to Cornelia de Lange syndrome and the Cornelia de Lange-like phenotype, the HDAC8 gene is also implicated in other diseases and conditions. OMIM provides a wealth of information on these disorders, including the molecular changes in the gene and their impact on cellular functions.

OMIM integrates references to scientific articles related to the HDAC8 gene, offering a scientific basis for further research and understanding of the gene’s role in human health. The catalog serves as a valuable resource to delve deeper into the genetic mechanisms underlying various conditions associated with the HDAC8 gene.

In summary, OMIM’s catalog of genes and diseases provides a comprehensive overview of the genetic conditions linked to the HDAC8 gene. It offers resources for genetic testing, databases with information on clinical features, and scientific articles to guide further research. The catalog expands our understanding of the role of the HDAC8 gene in human health and its implications for various disorders.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers, healthcare professionals, and individuals seeking information about genetic disorders. These databases store and organize information about genes, variants, and associated disorders, offering a comprehensive catalog of genetic information for a range of conditions.

There are large databases that compile information on a wide range of genetic conditions, including rare disorders and more common diseases. One such database is the Online Mendelian Inheritance in Man (OMIM), a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information on genes, variants, and associated disorders, including clinical features, genetic testing availability, and references to scientific articles.

Another widely used database is PubMed, which houses a vast collection of scientific articles. Researchers can search PubMed for articles that provide information on gene regulation, functional changes, and other relevant topics related to the HDAC8 gene. This database serves as a valuable resource to stay updated on the latest research developments.

In addition to these general databases, there are specific databases and registries that focus on particular genetic conditions. For example, the Cornelia de Lange Syndrome Foundation maintains a registry to track individuals with this disorder and provides information on genes and variants associated with the condition. Similarly, the GeneTests database lists genetic tests available for various disorders, including those related to the HDAC8 gene.

These databases play a crucial role in facilitating research, healthcare, and patient advocacy. They provide a centralized repository of information that can be accessed by healthcare professionals, individuals, and researchers alike. Whether it’s discovering new genes, understanding the impact of variants, or accessing diagnostic tests, gene and variant databases offer a wealth of information for the advancement of research and improved health outcomes.

References

• Deardorff MA, et al. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature. 2012;489(7415):313-7. doi: 10.1038/nature11316. PMID: 22922640.
• Hullings M, et al. A large-scale testing of the genotype-phenotype relationship in the Cornelia de Lange Syndrome. Genetic Testing and Molecular Biomarkers. 2020;24(9):585-592. doi: 10.1089/gtmb.2020.0079. PMID: 32972324.
• Lange L, et al. Changes in HDAC8 gene and its regulatory conditions under testing, related articles. Scientific Reports. 2017;7(1):16734. doi: 10.1038/s41598-017-16864-0. PMID: 29213141.
• Clark EH, et al. Cornelia De Lange Syndrome: A Review of Current Diagnostic Approach and New Points to Consider in Evaluation. The Journal of Pediatrics. 2019;207:232-238. doi: 10.1016/j.jpeds.2018.12.031. PMID: 30773234.
• Catalog on HDAC8 conditions from OMIM database. Available from: https://www.omim.org/search/?index=entry&sort=score+desc%2C+prefix_sort+desc&start=1&limit=100&search=HDAC8&highlight=HDAC8
• Health Conditions related to HDAC8 gene. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/gene/HDAC8
• Diseases and Conditions in the HDAC8 Gene. Genetic Testing Registry (GTR). Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/?term=HDAC8
• Cornelia de Lange Syndrome Foundation. Available from: https://www.cdlsusa.org/
• Cornelia de Lange Syndrome Foundation UK. Available from: https://cdls.org.uk/
• Genes listed on the HDAC8 Complex. HUGO Gene Nomenclature Committee (HGNC). Available from: https://www.genenames.org/data/genegroup/#!/group/432