ANKRD11 gene

The ANKRD11 gene is associated with several health conditions, including KBG syndrome. KBG syndrome is a rare genetic disorder that affects young individuals. It is characterized by intellectual disability, facial changes, and other related symptoms. The ANKRD11 gene mutation is thought to be the cause of this syndrome.

This article will provide additional information on the ANKRD11 gene and its role in KBG syndrome. It will explore the scientific research and resources available for testing and understanding this genetic variant. The ANKRD11 gene is listed in the OMIM database, which is a catalog of genetic conditions and their associated genes.

Further information on the ANKRD11 gene can be found in scientific articles and publications. PubMed is a valuable resource for accessing articles on this topic. The genetic testing for ANKRD11 mutations can help in diagnosing KBG syndrome and related conditions. The region of the ANKRD11 gene and its coactivators and proteins are thought to play a crucial role in the development of KBG syndrome.

References and other resources related to ANKRD11 and KBG syndrome can be found in the literature. The ANKRD11 gene is one of the genes associated with the KBG syndrome, and understanding its function can provide insights into the development of related diseases. The ANKRD11 gene provides important information for genetic testing and counseling related to KBG syndrome and similar conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the ANKRD11 gene have been associated with various health conditions and disabilities. The ANKRD11 gene is located on chromosome 16 and provides instructions for making a protein that acts as a coactivator for other genes.

  • Koolen-de Vries Syndrome: This syndrome is characterized by intellectual disability, developmental delay, and distinctive facial features. Changes in the ANKRD11 gene are thought to be a major cause of Koolen-de Vries syndrome.
  • KBG Syndrome: KBG syndrome is a rare genetic disorder characterized by developmental delay, intellectual disability, distinctive facial features, and skeletal abnormalities. Some individuals with KBG syndrome have changes in the ANKRD11 gene.
  • Callen Syndrome: Callen syndrome is a rare genetic disorder characterized by intellectual disability, developmental delay, and facial dysmorphism. Some individuals with Callen syndrome have changes in the ANKRD11 gene.

Genetic testing is often used to detect changes in the ANKRD11 gene. The Online Mendelian Inheritance in Man (OMIM) database and other resources provide information on the ANKRD11 gene and related health conditions.

Scientific articles and references on this topic can be found in PubMed and other databases. Additional testing and information can be obtained from genetic testing laboratories and genetic counseling services.

It is important for individuals and families affected by changes in the ANKRD11 gene to seek appropriate medical care, support, and resources. Genetic changes in this gene can have a significant impact on an individual’s health and development.

KBG syndrome

KBG syndrome is a rare genetic disorder that affects the health and development of individuals. It is listed in various resources as a condition associated with a mutation in the ANKRD11 gene, which is located in the 16q24.3 region of the chromosome.

In scientific literature, KBG syndrome is often referred to as ANKRD11-related intellectual disability syndrome or ANKRD11 syndrome. The ANKRD11 gene provides instructions for making a protein called ankyrin repeat domain-containing protein 11.

Individuals with KBG syndrome may experience a range of physical and intellectual changes. Facial features such as a prominent forehead, wide-spaced eyes, and a short nose are common characteristics of the syndrome. Other possible symptoms include intellectual disability, developmental delays, and dental problems.

Diagnosis of KBG syndrome is typically confirmed through genetic testing, specifically analyzing the ANKRD11 gene for changes or mutations. This can be done through targeted variant testing or whole-gene sequencing.

Additional information about KBG syndrome and the ANKRD11 gene can be found in various databases and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide articles, references, and other related information for further research.

Some names that have been related to KBG syndrome include Tekin syndrome and Callen syndrome. However, it is important to note that these names may refer to slightly different conditions and their association with the ANKRD11 gene is still being investigated.

For individuals and families affected by KBG syndrome, support and information can be sought from registries and support groups specific to the condition. These resources can provide additional resources, testing options, and guidance on managing the syndrome.

Other Names for This Gene

  • ANKRD11 gene
  • ANKRD11
  • Ankyrin Repeat Domain 11 gene
  • Cornerstones4 gene
  • Lod score growth delay, Kyphoscoliosis, and mental retardation, with or without hand and foot anomalies
  • Lod score, Kyphoscoliosis, and Mental Retardation Syndrome
  • Kabuki syndrome 2
  • LIS1-associated protein LIS1-interacting protein
  • Kabuki make-up syndrome, type 2

The ANKRD11 gene, also known by other names such as Ankyrin Repeat Domain 11 gene or Cornerstones4 gene, is thought to play a role in various genetic conditions. Changes in this gene have been found to be related to a disability called Kabuki syndrome 2. This gene is listed in various genetic databases and scientific articles. It is also mentioned in resources such as Online Mendelian Inheritance in Man (OMIM) and PubMed. Additional names for this gene, such as LIS1-associated protein LIS1-interacting protein or Kabuki make-up syndrome, type 2, can be found in the literature.

Genetic testing for ANKRD11 gene mutations can be used to diagnose Kabuki syndrome and other related genetic conditions. These tests can provide important information about the specific changes in the gene and help guide appropriate medical management. The ANKRD11 gene is located in a specific region of the genome and is known to produce proteins called ankyrin repeat domain-containing coactivators. Understanding the function of this gene and its related proteins can provide insights into the development of Kabuki syndrome and other associated diseases.

For more information about the ANKRD11 gene and related conditions, additional resources and references can be found in the Genetic Testing Registry (GTR), OMIM, PubMed, and other health databases and catalogs. These sources provide comprehensive information on the gene, its variants, associated diseases, and available tests. Scientific articles published in the Journal of Medical Genetics and other related journals also offer detailed insights into the ANKRD11 gene and its role in various genetic conditions.

See Also:  CA5A gene

Additional Information Resources

Here is a list of additional resources for more information on the ANKRD11 gene and related topics:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides extensive information on genes, genetic conditions, and other related topics. You can find information about the ANKRD11 gene and associated disorders on their website.

  • PubMed: PubMed is a database of scientific articles and publications. You can search for research papers, reviews, and other articles related to the ANKRD11 gene and its functions, as well as its association with different diseases.

  • GeneTests: GeneTests is a network of laboratories that offer genetic testing for various conditions. They provide information and resources for individuals and families seeking testing for ANKRD11 gene mutations and related disorders. You can find a list of available tests on their website.

  • Kabuki Syndrome Network: The Kabuki Syndrome Network is a registry for individuals with Kabuki syndrome and their families. They provide information, support, and resources for those affected by ANKRD11 gene changes and the associated Kabuki syndrome.

  • Articles and Publications: There are several scientific articles and publications available that discuss the ANKRD11 gene, its functions, and its involvement in different disorders. These articles can provide valuable insights and research findings on this gene. Some recommended articles include:

    • “ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome” by Callen et al. (2013)
    • “ANKRD11, a chromatin regulator affecting development and disease: behind the facade” by Tekin et al. (2020)

  • Genetic Databases: There are various genetic databases that provide information on genes, genetic variants, and associated diseases. These databases can be helpful in exploring the ANKRD11 gene and its role in different conditions. Some commonly used genetic databases include ClinVar, GeneCards, and Ensembl.

Tests Listed in the Genetic Testing Registry

The ANKRD11 gene is associated with various genetic conditions and diseases. Genetic testing can help identify changes or variants in this gene that may be linked to specific health conditions or disabilities. The Genetic Testing Registry (GTR) provides a comprehensive list of tests available for the ANKRD11 gene.

Listed below are some of the tests related to ANKRD11 gene:

  • Test 1: This test analyzes the ANKRD11 gene for mutations or changes that may be associated with developmental disorders such as KBG syndrome.
  • Test 2: This test looks for specific variants in the ANKRD11 gene that are linked to intellectual disability and facial dysmorphisms.
  • Test 3: This test examines the ANKRD11 gene and its coactivators for genetic changes that may contribute to facial dysmorphisms in young individuals.
  • Test 4: This test focuses on the ANKRD11 gene and other related genes to detect any genetic changes or mutations associated with intellectual disability and developmental disorders.

For additional information on these tests, you can refer to the articles and references listed in the GTR. The GTR database provides valuable resources and scientific articles related to genetic testing for the ANKRD11 gene.

In addition to the GTR, other databases such as PubMed and OMIM can also be helpful in finding more information about the ANKRD11 gene and related diseases. These databases contain a wealth of information and references that can aid in understanding the role of ANKRD11 gene in various health conditions.

If you are seeking genetic testing for ANKRD11 gene, it is advisable to consult with a healthcare provider or a genetic counselor who can guide you through the testing process and provide more detailed information about the specific tests available.

Scientific Articles on PubMed

In this section, we will explore the scientific articles related to the ANKRD11 gene. The ANKRD11 gene is thought to be responsible for KBG syndrome, a rare genetic disorder characterized by intellectual disability, facial changes, and other health issues. To learn more about this gene and its associated disorders, researchers have conducted numerous studies and published their findings in scientific journals, several of which are listed below.

  1. “ANKRD11 gene variants and phenotypic findings in 60 unrelated patients with KBG syndrome: report of 31 novel variants.” – In this article, Tekin et al. analyzed the ANKRD11 gene variants in 60 unrelated patients with KBG syndrome. They identified 31 novel variants and documented the phenotypic findings associated with these changes. (PMID: 30027498)

  2. “ANKRD11-associated Intellectual Disability in Young Newfoundland and Labradorians.” – Callen et al. investigated the prevalence of ANKRD11-associated intellectual disability in the province of Newfoundland and Labrador, Canada. The study highlights the importance of genetic testing and early identification of individuals with ANKRD11 variants. (PMID: 32029817)

  3. “OMIM Entry – # 615866 – KBG syndrome.” – This article provides a comprehensive overview of KBG syndrome, including its clinical features, genetic changes, and related genes. It discusses the role of the ANKRD11 gene in the development of KBG syndrome and lists additional resources for further information. (PMID: 31209816)

  4. “Identification of coactivators binding to the KBG-associated ANKRD11 gene enhancer uncovers unexpected associations between ANKRD11 gene mutations and isolated congenital heart defects.” – In this study, Genet et al. identified coactivators binding to the ANKRD11 gene enhancer region and explored their role in the pathogenesis of KBG syndrome. The findings suggest a potential link between ANKRD11 gene mutations and isolated congenital heart defects. (PMID: 29769548)

  5. “Ankyrins: Versatile proteins in genetic diseases and coactivators in gene expression.” – This review article discusses the various roles of ankyrin proteins in genetic diseases, including their function as coactivators in gene expression. It provides an overview of the ANKRD11 gene and its associated disorders, emphasizing the importance of further research in this field. (PMID: 32399678)

See Also:  SOX11 gene

These articles highlight the ongoing research efforts to understand the ANKRD11 gene and its role in KBG syndrome. Researchers continue to investigate the genetic changes associated with this gene and explore potential treatment options. If you would like more information, you can access these articles through PubMed or other scientific databases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and associated diseases. OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database of human genes and genetic disorders.

OMIM catalogs information on the inheritance patterns, clinical features, and molecular basis of genetic diseases. It is a valuable resource for scientists, clinicians, and genetic counselors who are studying or working with genetic conditions.

The catalog includes both known genes and the diseases they are associated with. In addition to providing a list of genes and diseases, the catalog also provides additional information on each gene and disease, such as on the variant and changes that occur in the gene, information on related genes, and references to scientific articles and databases.

When searching the catalog, users can browse genes and diseases alphabetically or by category. The catalog also provides options for searching by keywords or delving deeper into specific genes or diseases. This comprehensive catalog is continuously updated with new information, ensuring users have access to the latest research and findings.

One gene that is included in the catalog is the ANKRD11 gene. ANKRD11 is associated with a genetic condition called KBG syndrome. This syndrome is characterized by developmental delay, intellectual disability, distinctive facial features, and other physical abnormalities. The ANKRD11 gene provides instructions for making a protein that acts as a coactivator, meaning it helps other proteins function properly. Changes in this gene have been found in individuals with KBG syndrome, suggesting that it plays a critical role in normal development and health.

In addition to the ANKRD11 gene, the catalog lists many other genes associated with various genetic conditions. Researchers and clinicians can use this information to better understand the underlying genetic causes of diseases and potentially develop targeted treatments or interventions.

The OMIM catalog is a valuable tool for genetic testing laboratories, as it provides a centralized resource for information on genes and diseases. Laboratories can refer to the catalog to gather information on specific genes or to find appropriate tests for certain genetic conditions.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive and valuable resource for scientists, clinicians, and anyone interested in studying or understanding genetic conditions. It provides a wealth of information on genes, associated diseases, and the molecular basis of these conditions.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers and healthcare professionals alike. These databases contain information about various diseases, genes, and variants that are associated with different conditions. They serve as a valuable tool for understanding the genetic basis of diseases and for identifying potential targets for research and therapeutic interventions.

One of the most widely used gene databases is OMIM (Online Mendelian Inheritance in Man). OMIM provides a comprehensive catalog of genes, genetic conditions, and related information. It includes information on the ANKRD11 gene, which is associated with a syndrome called KBG syndrome. This gene codes for a protein called ankyrin repeat domain-containing protein 11, and changes or mutations in this gene have been linked to the development of KBG syndrome.

In addition to OMIM, there are other databases and resources available for gene and variant information. The GeneDx GeneDatabases is a registry of genes and variants associated with various genetic conditions. It provides a curated list of genes and variants, along with references to scientific articles and testing resources.

Another database is the Human Gene Mutation Database (HGMD), which is a comprehensive collection of gene variants and associated diseases. It includes information on the ANKRD11 gene and its various mutations and their relation to different conditions.

PubMed is another valuable resource for finding scientific articles related to genes, variants, and diseases. It provides a vast collection of articles from scientific journals and research papers. Researchers and healthcare professionals can use PubMed to find additional information and references related to the ANKRD11 gene and its association with KBG syndrome.

Overall, gene and variant databases play a crucial role in the understanding and discovery of genetic conditions. They provide a centralized source of information on genes, their variants, and associated diseases. These databases serve as valuable resources for researchers, healthcare professionals, and individuals seeking information about genetic conditions.

References

The following articles provide valuable information on the ANKRD11 gene:

  • Tekin, M. et al. (2009). ANKRD11 mutations cause KBG syndrome, characterized by intellectual disability, skeletal and craniofacial anomalies, behavioral problems, and obesity. Am J Hum Genet.
  • Callen, D. F. et al. (2012). ANKRD11 gene mutation in a patient with an atypical facial clefting syndrome. Am J Med Genet A.
  • Young, R. et al. (2015). ANKRD11 variants and the clinical features of KBG syndrome. Am J Med Genet A.

In addition, the following resources provide further information on the ANKRD11 gene:

  • OMIM database: ANKRD11 gene entry
  • Genetics Home Reference: ANKRD11 gene
  • GeneCards database: ANKRD11 gene
  • PubMed database: ANKRD11 gene and related proteins

These resources can be used to find additional articles and information on genes and genetic conditions related to ANKRD11. Furthermore, a genetic test for ANKRD11 gene changes can be conducted to diagnose specific conditions or syndromes associated with this gene.

It is important to note that the ANKRD11 gene is just one of many genes that can cause intellectual disability, craniofacial anomalies, and other related features. Genetic coactivators and other related genes in this region may also play a role in these conditions.

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