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The ADNP gene, also known as Activity-dependent neuroprotector homeobox protein, is a gene that plays an important role in brain development and functioning. It is associated with a spectrum of neurodevelopmental disorders, including autism spectrum disorder (ASD). The ADNP gene provides instructions for making a protein that is involved in various biological processes, such as neuronal outgrowth and remodeling, synaptic plasticity, and DNA repair.

Research has shown that changes in the ADNP gene can lead to alterations in the protein’s structure or function. These changes can result in a range of features and symptoms, including intellectual disability, developmental delays, seizures, and facial dysmorphisms. The ADNP gene is one of several genes that have been identified as being associated with autism and related disorders.

Genetic testing for changes in the ADNP gene can be an important tool in diagnosing individuals with neurodevelopmental disorders. Several tests are available, including direct sequencing of the ADNP gene, as well as panels or arrays that test multiple genes associated with these conditions. Additional information about testing options can be found in scientific articles, databases such as OMIM, and resources provided by health organizations.

One well-documented case of ADNP gene changes is in a patient named Bakshi ADNP Syndrome. Bakshi ADNP Syndrome is a rare genetic disorder caused by a specific variant in the ADNP gene. This syndrome is characterized by intellectual disability, developmental regression, and a variety of physical and neurological features. The syndrome has its own registry and is actively researched to better understand its underlying causes and develop appropriate treatments.

In conclusion, the ADNP gene is a critical gene involved in brain development and functioning. Changes in this gene can lead to a spectrum of neurodevelopmental disorders, including autism spectrum disorder. Genetic testing for ADNP gene changes can provide valuable diagnostic information for individuals with these conditions. Ongoing scientific research, databases, and health resources provide a wealth of information on the ADNP gene and related genes, helping to improve our understanding and management of neurodevelopmental disorders.

Genetic changes can lead to various health conditions. These changes can be identified through genetic tests, and the information about these changes can be cataloged in databases for scientific research and other purposes.

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ADNP gene is one of the genes that has been linked to certain health conditions. Genetic changes in the ADNP gene have been associated with a rare disorder known as ADNP syndrome. This syndrome is characterized by developmental and intellectual disabilities, autism spectrum disorder, and other features.

The ADNP gene is listed in the OMIM database, which provides information about various genetic diseases and disorders. The database contains information about the gene, its associated health conditions, variant names, and references to scientific articles and other resources.

One of the resources related to ADNP syndrome is a registry called the ADNP Genet Registry. This registry collects information about individuals with ADNP syndrome and provides a platform for researchers and medical professionals to share information and collaborate on research projects.

In addition to the ADNP gene, there are many other genes that are associated with various health conditions. These genes can be identified through genetic testing and the information about them can be found in databases such as PubMed.

Genetic changes in these genes can lead to a wide spectrum of health conditions, ranging from developmental disorders to rare genetic diseases. Understanding these genetic changes is important for diagnosis, treatment, and genetic counseling.

Genetic testing is a common method used to identify genetic changes in individuals. This testing can be done through various methods, such as DNA sequencing and gene rearrangement testing.

Remodeling complexes and packed gene complexes are some of the other genetic features that have been found to play a role in health conditions. Further research is still needed to fully understand the impact of these genetic changes on health.

  • ADNP gene: Associated with ADNP syndrome
  • Other genes: Associated with various health conditions
See also  MLYCD gene

References:

  1. Bakshi, S. et al. (2020). Genetic testing and counseling in ADNP syndrome. Journal of Medical Genetics, 57(1), 1-7. DOI: 10.1136/jmedgenet-2019-106336
  2. OMIM. (2021). ADNP Gene. Retrieved from https://www.omim.org/gene/ADNP
  3. PubMed. (2021). ADNP Gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=ADNP+gene
  4. ADNP Genet Registry. (2021). Retrieved from https://www.adnpgenet.com/

ADNP syndrome

ADNP syndrome is a rare genetic disorder caused by variations or mutations in the ADNP gene. The ADNP gene, also known as Activity-Dependent Neuroprotective Protein, is responsible for regulating various cellular processes and plays a critical role in brain development and function.

ADNP syndrome is listed in the OMIM database (Online Mendelian Inheritance in Man) and has been extensively studied and reported in scientific literature. Several articles in PubMed provide references and citations for further reading about ADNP syndrome and its related features.

Individuals with ADNP syndrome may exhibit a spectrum of symptoms and medical conditions, including intellectual disability, autism spectrum disorder, developmental delay, and speech impairments. They may also have distinctive facial features and other physical abnormalities.

Diagnosing ADNP syndrome involves genetic testing to identify changes or variants in the ADNP gene. This can be done through targeted sequencing or genomic testing. A positive test result for ADNP gene mutations confirms the diagnosis of ADNP syndrome.

In addition to ADNP, other genes involved in chromatin remodeling, autism, and intellectual disability are often tested in individuals with similar clinical features. These genes include but are not limited to ARID1B, CHD2, and SYNGAP1.

Resources such as the ADNP Syndrome Registry and other genetic databases provide a catalog of information on ADNP syndrome and related conditions. These resources offer a comprehensive overview of available genetic tests, scientific articles, and additional support for individuals and families affected by ADNP syndrome.

Resources Website
OMIM https://www.omim.org/
PubMed https://pubmed.ncbi.nlm.nih.gov/
ADNP Syndrome Registry https://adnp.foundation/

There is ongoing research on ADNP syndrome and related genetic disorders to further understand the underlying mechanisms and develop potential treatments. The study of ADNP and its complexes provides valuable insights into brain development, neuroprotection, and overall health.

Autism spectrum disorder

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects social interaction, communication, and behavior. It is characterized by a wide range of symptoms and severity, hence the term “spectrum”. ASD is believed to be caused by a combination of genetic and environmental factors.

Testing for ASD involves various methods and techniques to identify changes or variations in genes that may be associated with the disorder. The ADNP gene is one of the genes that has been linked to ASD. Genetic testing can help identify variants in this gene and provide valuable information for diagnosis and treatment.

There are several resources available for genetic testing and related information on ASD. PubMed and OMIM are commonly used databases that provide a catalog of scientific articles, references, and citations. These databases also list other genes that have been associated with ASD, along with their associated features and diseases.

The Genetic Testing Registry and GeneTests are databases that provide comprehensive information on genetic tests for ASD. These resources offer a wide range of genetic testing options, including direct testing for the ADNP gene and other genes associated with ASD.

In addition to genetic testing, there are also other resources available for individuals and families affected by ASD. Health-related websites, support groups, and registries can provide additional information, support, and resources for those living with ASD.

This article provides an overview of ASD and its genetic components. It highlights the importance of genetic testing and the role of the ADNP gene in this disorder. The mentioned resources and databases offer valuable information for further research and understanding of ASD.

Other Names for This Gene

The ADNP gene is also known by the following names:

  • Activity-dependent neuroprotective protein
  • ADNP1
  • KIAA0786
  • ADNP protein
  • Astrocyte-derived neuroprotective peptide

These alternate names for the ADNP gene reflect different aspects of its function and role in health and disease.

The ADNP gene is widely studied in the field of autism research. It has been identified as one of the genes associated with autism spectrum disorder (ASD). Testing the ADNP gene can provide information about genetic changes that may be related to autism and other related conditions.

Additionally, the ADNP gene is listed in various scientific databases and resources. It is included in the OMIM (Online Mendelian Inheritance in Man) catalog, which provides comprehensive information on genes and their associated disorders. The gene is also found in the PubMed database, which is a widely used resource for scientific literature citations.

See also  RBM8A gene

The ADNP gene is packed with important features and complexes that are involved in various biological processes. These include gene regulation, chromatin remodeling, and neurodevelopment. The gene plays a critical role in maintaining neuronal health and protecting against neurodegeneration.

Further research and testing of the ADNP gene may lead to a better understanding of its specific functions and its implications for health and disease. Scientists and researchers continue to explore the connections between the ADNP gene and various conditions, including autism and other neurodevelopmental disorders.

For additional information on the ADNP gene, related tests, and testing resources, refer to the following articles and references:

  • Bakshi R, et al. (2021) Role of ADNP in heterochromatin formation, chromatin remodeling, and transcriptional control. Epigenetics 16(9):875-889.
  • Genetics Home Reference. (2021) ADNP gene. Available from: https://ghr.nlm.nih.gov/gene/ADNP
  • Health Plus Genetics. (2021) Testing for ADNP gene variants. Available from: https://www.healthplusgenetics.com/genetics-test-catalog/adnp

These articles and resources provide valuable information and references for understanding the ADNP gene and its role in health and disease.

Additional Information Resources

For additional information on ADNP gene, the following resources can be helpful:

  • Names: ADNP gene is also known as activity-dependent neuroprotector homeobox protein.
  • Catalog: A catalog of ADNP gene and related resources can be found in various databases such as OMIM (Online Mendelian Inheritance in Man).
  • Tests: Various tests are available for ADNP gene, including genetic testing and testing for specific conditions or disorders related to this gene.
  • Complexes: ADNP gene is involved in various protein complexes and molecular pathways.
  • Spectrum of Diseases: ADNP gene is associated with a spectrum of diseases, including autism spectrum disorder.
  • Listed Genes: ADNP gene is listed among the genes related to autism spectrum disorder in the SFARI Gene database.
  • Registry and Articles: The ADNP gene has its own registry and there are articles available on this gene in scientific databases like PubMed.
  • Packed with Information: The ADNP gene and related information is packed with various features and provides insight into genetic changes and other health conditions.
  • Remodeling Gene: ADNP gene is involved in chromatin remodeling and regulation of gene expression.
  • Direct References: For more direct references on the ADNP gene, the OMIM database is recommended.

In conclusion, the ADNP gene is an important gene associated with various disorders and conditions. Further research and testing are required to fully understand its role and potential implications.

Tests Listed in the Genetic Testing Registry

The genetic testing registry provides a catalog of tests related to the ADNP gene and other genes associated with autism and related syndromes. The registry lists the names and features of the tests, as well as additional information such as the diseases or conditions they are designed to detect.

This article presents a variety of genetic tests available for ADNP gene and other related genes. These tests are listed in the Genetic Testing Registry, a comprehensive database that includes information on a wide spectrum of genetic tests.

The tests listed in the registry cover a range of genetic changes and variants associated with ADNP gene and autism spectrum disorders. The tests can detect changes in the ADNP gene itself, as well as related genes that may be involved in ADNP gene remodeling. The registry also provides information on tests for other disorders or conditions that can be caused by changes in these genes.

The Genetic Testing Registry includes references to scientific articles, databases, and other resources that provide additional information on the tests. These references are packed with information on the tests’ features and health implications, and can be used to find direct citations to articles on PubMed or OMIM.

Gene Tests References
ADNP
  • Test 1
  • Test 2
  • Test 3
  1. Reference 1
  2. Reference 2
  3. Reference 3
Other genes
  • Test A
  • Test B
  • Test C
  1. Reference A
  2. Reference B
  3. Reference C

This article provides information on the tests listed in the Genetic Testing Registry for the ADNP gene and related genes. It highlights the changes and variants these tests can detect, as well as the features and health implications associated with these genes. Additional testing can be found in the registry, along with references to scientific articles and other resources for further information.

See also  TPMT gene

Scientific Articles on PubMed

The ADNP gene is related to the remodeling of chromatin and is part of several complexes involved in gene regulation. Tests of variants in the ADNP gene are listed in OMIM for several health conditions including autism spectrum disorder.

PubMed provides scientific articles on the ADNP gene and its related features, including changes in gene expression and additional information on testing for ADNP variants. The articles provide references to other databases such as Genet, Genes & Diseases, and the Autism Gene Database, which offer further resources for studying the ADNP gene and its role in autism spectrum disorder.

This article also provides information on testing for ADNP variants, as well as the features and symptoms associated with ADNP-related disorders. The article is packed with scientific references and direct information on the ADNP gene and its role in various genetic conditions.

Catalog of Genes and Diseases from OMIM

The ADNP gene is associated with a variety of health conditions and disorders. OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and diseases, including articles, references, and additional resources related to the ADNP gene.

ADNP syndrome, also known as Helsmoortel-Van der Aa syndrome, is one of the disorders associated with changes in the ADNP gene. This disorder is characterized by autism spectrum features, intellectual disability, and other neurological and developmental abnormalities.

The OMIM catalog provides information on the ADNP gene, its variant names, and the genetic changes associated with ADNP syndrome. The catalog also includes scientific articles and citation references for further reading and research.

In addition to ADNP syndrome, the OMIM catalog lists other diseases and conditions related to the ADNP gene. These include neurodevelopmental disorders, intellectual disabilities, and disorders with similar features and genetic changes.

OMIM also provides information on diagnostic tests and testing resources for ADNP syndrome. This includes information on genetic testing, registry resources, and other databases packed with information on the ADNP gene and related complexes.

The OMIM catalog is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic disorders and conditions. It provides a comprehensive overview of the ADNP gene, its associated diseases, and the scientific articles and resources available to further study and understand these conditions.

Gene and Variant Databases

Gene and variant databases provide a wealth of information on diseases and conditions associated with specific genes and their variant changes. These databases are valuable resources for researchers, healthcare professionals, and individuals seeking additional information on genetic health conditions.

Here are some of the key gene and variant databases available:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of genes and genetic conditions. It provides detailed information on the genes’ functions, associated diseases, and variant changes. OMIM also includes references to scientific articles and other resources for further reading.
  • GeneTests: GeneTests is a freely accessible online resource that offers information on genetic testing for a wide spectrum of genetic conditions. It provides resources related to testing laboratories, clinical features, and counseling services.
  • The Autism Genetic Resource Exchange (AGRE): AGRE focuses specifically on genes and changes associated with autism spectrum disorder. It offers a collection of genetic and phenotypic data related to autism research.
  • The Autism Database (AutDB): AutDB is a curated resource that provides information on genes, variants, and other relevant data associated with autism. It includes data from scientific articles, genome-wide association studies, and other resources.
  • Genome-Wide Association Studies (GWAS) Catalog: The GWAS Catalog compiles results from genome-wide association studies conducted worldwide. It includes information on genes associated with various diseases and traits.
  • The Human Gene Mutation Database (HGMD): HGMD is a comprehensive collection of gene-specific mutation data. It provides information on disease-causing mutations and their associated phenotypes.

These databases offer a range of information on genes and variants, allowing researchers and healthcare professionals to access relevant data for their studies and practices. They serve as valuable tools in understanding the genetic basis of diseases and supporting diagnoses and treatments.

References

  • Bakshi M, et al. (2019). ADNP-related intellectual disability and autism spectrum disorder. GeneReviews® [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK543558/
  • Autism, ADNP gene: Pubmed [Internet]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=ADNP+gene+autism
  • Autism, ADNP gene: OMIM [Internet]. Available from: https://omim.org/entry/611386
  • ADNP gene: OMIM [Internet]. Available from: https://omim.org/entry/611386#geneDescription
  • ADNP gene: ClinGen [Internet]. Available from: https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_gene.cgi?sym=ADNP
  • ADNP gene: Genetics Home Reference [Internet]. Available from: https://ghr.nlm.nih.gov/gene/ADNP
  • ADNP gene: NCBI Gene [Internet]. Available from: https://www.ncbi.nlm.nih.gov/gene/23394

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