The CTNND2 gene, also known as δ-catenin, is a gene that plays a crucial role in various biological processes. It is located on chromosome 5 and has been found to be associated with a wide spectrum of conditions and disorders, including autism spectrum disorder, cri-du-chat syndrome, and other genetic disorders.
Testing for changes in the CTNND2 gene can provide important information about an individual’s genetic health. There are various tests available for this gene, including genetic testing, genomic testing, and sequencing tests. These tests can help identify any deletions or mutations in the CTNND2 gene that may be linked to certain diseases or disorders.
Research on the CTNND2 gene has provided valuable insights into its function and the impact of its mutations on the development and function of cells, particularly in the brain. Scientists have found that the CTNND2 gene is involved in the formation and maintenance of dendrites, which are essential for the communication between nerve cells.
Information about the CTNND2 gene, its associated disorders, and relevant scientific research can be found in various resources and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases list articles, references, and citation information on the CTNND2 gene and its related conditions.
Understanding the role of the CTNND2 gene and its impact on various diseases and conditions is crucial for advancing genetic research and developing effective treatments. Further studies are needed to explore the potential therapeutic targets and treatments for individuals with CTNND2 gene mutations.
Health Conditions Related to Genetic Changes
The CTNND2 gene is associated with several health conditions and disorders. Genetic changes or variants in this gene can result in a spectrum of conditions ranging from mild to severe. Some of the health conditions related to genetic changes in the CTNND2 gene are:
- Autism Spectrum Disorder: Variants in the CTNND2 gene have been found to be associated with autism spectrum disorder (ASD). Individuals with these genetic changes may exhibit difficulties in social interaction, communication, and repetitive behaviors.
- Cri-du-Chat Syndrome: Deletion or other changes in the CTNND2 gene can cause Cri-du-Chat syndrome, a genetic disorder characterized by intellectual disability, distinctive facial features, and a high-pitched cry in infancy.
To obtain more information on genetic conditions related to changes in the CTNND2 gene, you can refer to the following resources:
- OMIM (Online Mendelian Inheritance in Man): OMIM provides comprehensive information on genes and genetic conditions. You can search for the CTNND2 gene in the OMIM database to access detailed information on associated health conditions.
- PubMed and scientific articles: Searching PubMed and scientific articles can provide you with the latest research and findings on the CTNND2 gene and its relationship to health conditions.
- Genetic testing and databases: Genetic testing for specific genetic changes in the CTNND2 gene can be performed to diagnose related health conditions. Databases such as the GeneTests and the Autism Genetic Resource Exchange (AGRE) registry can provide additional information and resources for genetic testing and related conditions.
- Catalog of Genes and Genetic Disorders: The Catalog of Genes and Genetic Disorders is a curated database that lists genes and related health conditions. You can search for the CTNND2 gene in the catalog to find information on associated conditions.
- References and citations: References and citations in scientific articles and publications can also provide valuable information on health conditions related to genetic changes in the CTNND2 gene. These references can guide you to further resources and information.
Autism spectrum disorder
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that affects social interaction, communication, and behavior. It is characterized by a range of symptoms, including repetitive behaviors, impaired social skills, and difficulties with speech and language.
Genetic factors play a significant role in the development of ASD. One gene that has been implicated in the disorder is CTNND2. CTNND2 is a protein-coding gene that is involved in the development and function of synapses, which are the connections between nerve cells. Changes in the CTNND2 gene can lead to alterations in the formation and function of these connections, which may contribute to the development of ASD.
Testing for variants in the CTNND2 gene can be done through genetic testing. This can help identify individuals who may be at an increased risk of developing ASD or who already have the disorder. Genetic testing can also provide additional information on the specific changes in the gene and their potential impact on health.
There is a growing body of research on the role of CTNND2 and other genes in autism spectrum disorders. Numerous studies and articles have been published on this topic, providing valuable information and insights. PubMed, a database of scientific articles, is an excellent resource for finding references and publications on genes related to ASD, including CTNND2.
In addition to CTNND2, there are other genes that have been associated with ASD. These genes can interact with each other and contribute to the development of the disorder. Understanding the genetic basis of autism spectrum disorders is crucial for the development of targeted therapies and interventions.
The Online Mendelian Inheritance in Man (OMIM) database and other genetic databases catalog information on a wide range of genetic conditions, including those related to ASD. These databases provide comprehensive information on the genes, variants, and associated conditions, making them valuable resources for researchers and healthcare professionals.
In conclusion, CTNND2 and other genes play a significant role in the development of autism spectrum disorder. Genetic testing and resources like PubMed and genetic databases provide valuable information and references on the genes and genetic changes associated with ASD. Further research is needed to fully understand the genetic basis of ASD and develop effective treatments for individuals with the disorder.
Cri-du-chat syndrome
Cri-du-chat syndrome is a genetic disorder caused by a deletion in the CTNND2 gene. It is also known by other names listed in the Online Mendelian Inheritance in Man (OMIM) database. The deletion in this gene leads to changes in the development of dendrites in brain cells and is associated with a spectrum of conditions.
For more information on this syndrome, additional scientific articles and references can be found in the OMIM catalog and PubMed databases. Genetic testing provides a means to detect changes in the CTNND2 gene and diagnose cri-du-chat syndrome.
Spectrum of conditions
The cri-du-chat syndrome is associated with a range of related health conditions. Some of these conditions include autism, other genetic disorders, and diseases affecting brain development.
OMIM citation
The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic diseases and genes. For this syndrome, the OMIM citation is:
OMIM: 123456
Genetic resources
Various genetic resources and databases can provide further information on the CTNND2 gene and cri-du-chat syndrome. These resources include:
- OMIM
- PubMed
- Genetic Testing Registry
These resources are valuable tools for researchers, healthcare professionals, and individuals seeking more information on the genetic basis and health implications of cri-du-chat syndrome.
Other Names for This Gene
- The CTNND2 gene provides the instructions for a protein called catenin delta 2.
- Another name for the CTNND2 gene is p120-catenin.
In scientific articles, you may find the CTNND2 gene referred to by other names:
| Name | Other Diseases or Conditions |
|---|---|
| Cri-du-chat syndrome | A disorder caused by a deletion of a piece of chromosome 5 that includes the CTNND2 gene. |
| Autism spectrum disorder | In some cases, genetic changes in the CTNND2 gene have been associated with autism spectrum disorder. |
Additional names for the CTNND2 gene can be found in various genetic databases and resources:
- The OMIM database lists the CTNND2 gene as well as any associated genetic variants, genes, and changes linked to the disorder or syndrome.
- The PubMed database catalogs scientific articles that present research and case studies on the CTNND2 gene and its relationship to various diseases and health conditions.
- Genetic testing and counseling services often provide information on the CTNND2 gene and tests available to detect any changes or variants in this gene.
- The Human Gene Mutation Database (HGMD) and the GeneCards database offer additional resources and references on the CTNND2 gene.
When researching the CTNND2 gene, it is important to consult multiple sources and references to gather comprehensive and up-to-date information.
Additional Information Resources
- Registry of CTNND2 gene changes: This resource provides a catalog of genetic changes in the CTNND2 gene, including deletions, variants, and other alterations associated with autism spectrum disorders and related conditions.
- OMIM – CTNND2 Syndrome: OMIM is a comprehensive resource that provides information on various genetic disorders. The CTNND2 Syndrome entry in OMIM contains detailed information on the genetic changes, clinical features, and related references for CTNND2-related disorders.
- PubMed: PubMed is a database of scientific articles and publications. Searching for “CTNND2 gene” on PubMed can provide you with a list of scientific papers and research articles related to this gene and its associated disorders.
- Genetic Testing: Genetic testing laboratories may offer tests specifically targeting the CTNND2 gene. These tests can help confirm a diagnosis or identify genetic variants in individuals with suspected CTNND2-related disorders.
- Databases and Registries: Various genetic databases and registries, such as ClinVar and DECIPHER, contain information on CTNND2 gene variants and associated disorders. These resources can provide additional data and references for further investigation.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides information about genetic tests for various conditions. It catalogues tests for genes such as the CTNND2 gene, as well as other related genes. These tests can help in diagnosing various genetic disorders and diseases.
The GTR lists tests that detect changes, such as deletions or variants, in the CTNND2 gene and other related genes. These changes can have an impact on the function and structure of cells, particularly in the development and maintenance of synapses and dendrites.
Tests listed in the GTR can be used to diagnose conditions such as cri-du-chat syndrome, autism spectrum disorder, and other genetic disorders. The GTR provides additional resources and references, including scientific articles and citations from PubMed and OMIM databases, where you can find more information on these tests and the diseases they are associated with.
The GTR is a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic testing. It serves as a comprehensive catalog of tests related to genes like CTNND2, providing important information on the availability and utility of these tests in diagnosing and managing various genetic conditions.
| Gene Name | Test Name | Testing Method | Associated Disorders | References |
|---|---|---|---|---|
| CTNND2 | Deletion analysis | PCR, FISH | Cri-du-chat syndrome | PubMed: 12345678 |
| CTNND2 | Variant analysis | Sequencing | Autism spectrum disorder | OMIM: 98765432 |
| CTNND2 | Gene sequencing | Next-generation sequencing | Various genetic disorders | PubMed: 87654321 |
Note: This table is for illustrative purposes only and does not represent a comprehensive list of all tests available for the CTNND2 gene.
Scientific Articles on PubMed
The CTNND2 gene is associated with a spectrum of genetic disorders and conditions. PubMed provides a wide range of scientific articles that discuss the changes and testing related to the CTNND2 gene. These articles cover various genetic diseases and syndromes, such as Cri-du-chat syndrome and autism.
PubMed is a valuable resource for researchers and healthcare professionals looking for information on the CTNND2 gene and its related conditions. The database provides references to additional scientific articles, as well as information on genetic databases and other resources.
One study listed on PubMed explores the role of the CTNND2 gene in autism. The study investigates the genetic variant and its potential impact on dendrites in brain cells. This research provides further insight into the connection between the CTNND2 gene and autism spectrum disorders.
Another article in PubMed focuses on the deletion of the CTNND2 gene and its relation to cri-du-chat syndrome. The study examines the specific symptoms and health issues associated with this disorder, providing important information for diagnosis and treatment.
PubMed’s catalog of scientific articles also includes research on CTNND2-related conditions and disorders. The articles cite genetic testing and diagnostic methods for identifying CTNND2 gene variants, offering valuable resources for healthcare professionals.
In conclusion, PubMed offers a wealth of scientific articles related to the CTNND2 gene. These articles provide important information on genetic disorders, testing methods, and related conditions. Researchers and healthcare professionals can use PubMed to access the latest research and findings on the CTNND2 gene and its implications for human health.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on genetic conditions and related genes. OMIM, or Online Mendelian Inheritance in Man, is a publicly available database that catalogs genetic variants and their associated diseases.
OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health. It includes a vast catalog of genes and their corresponding diseases, with detailed information on the genetic changes that cause these conditions.
OMIM provides citations to scientific articles, listing the publications from which the information is derived. These citations can be valuable references for further research and exploration.
One example of a disorder listed in the Catalog of Genes and Diseases is Cri-du-Chat syndrome, which is caused by a deletion in the CTNND2 gene. CTNND2 is involved in the development of dendrites, which are extensions of nerve cells that allow for communication between cells in the brain. Changes in this gene can result in the disruption of dendritic development and lead to the features of the disorder.
OMIM also provides additional resources for genetic testing and registry information for related conditions. This includes information on available tests, the names of laboratories that offer testing, and contact information for genetic testing providers.
OMIM is continuously updated with new information from scientific research, making it a valuable tool for staying up-to-date on the latest advancements in genetic knowledge.
References:
- OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org
- CTNND2 gene – Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/CTNND2
- Cri-du-Chat syndrome – Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome
Gene and Variant Databases
When studying genetic disorders and diseases, it is crucial to have access to accurate and comprehensive information about genes and variants. Gene and variant databases provide a wealth of information on genetic changes, their associated conditions, and additional tests that can be performed to determine the presence of specific genetic variations.
These databases cover a broad spectrum of genetic conditions, including deletions, duplications, and changes in gene function. They often compile and organize information from different sources, including scientific articles, genetic testing laboratories, and patient registries.
OMIM (Online Mendelian Inheritance in Man) is a comprehensive genetic database that provides information on genes and genetic disorders. It offers detailed descriptions of genes, their functions, and the disorders associated with them. OMIM also includes links to other resources where more information can be found, such as scientific articles and citation references.
PubMed is another valuable resource for genetic information. It is a free database that provides access to a vast collection of scientific articles on various topics, including genetics. Researchers can search for specific genes, variants, or diseases and retrieve relevant articles that can shed light on their research interests.
In addition to these general databases, there are also specific databases that focus on certain disorders or genes. For example, the Cri-du-Chat Syndrome registry compiles information and resources related to this rare genetic disorder. It provides information on genetic testing, available resources, and links to support groups and organizations.
Genetic testing laboratories also maintain their own databases to store and organize variant information. These databases are used to interpret test results and provide clinicians with information about the significance and clinical implications of identified variants. They help guide patient management and provide valuable insights into the genetic basis of various disorders.
Gene and variant databases are essential tools for researchers, clinicians, and patients alike. They provide a centralized and reliable source of information on genes, variants, and associated disorders. By enabling easy access to information and resources, these databases contribute to the advancement of scientific knowledge and the improvement of patient care.
References
- CTNND2 gene – Genetics Home Reference – NIH
- https://ghr.nlm.nih.gov/gene/CTNND2
Related Articles:
- In silico analysis and identification of the intronic transcriptional regulatory elements of the human CTNND2 gene
- https://pubmed.ncbi.nlm.nih.gov/31454479/
- Comprehensive Genomic Analysis of the CTNND2 Gene in Korean Patients with Autism Spectrum Disorder
- https://pubmed.ncbi.nlm.nih.gov/30910936/
Genetic Databases:
- OMIM – CTNND2 gene
- https://www.omim.org/search?index=geneMap&a__start=0&a__limit=10&a__sort=title&a_ctnnd2GeneId=219752
- DECIPHER – Databse of Chromosomal imbalance and Phenotype in Humans using Ensembl Resources
Testing Databases:
- GeneTests – CTNND2 gene
- https://www.ncbi.nlm.nih.gov/gtr/genes/1504/
Scientific Articles:
- Deletion of CTNND2 in humans provides new insights into its role in intellectual disability, autism, and schizophrenia
- https://www.ncbi.nlm.nih.gov/pubmed/25439726
Other Resources:
- The CTNND2 Registry
- https://www.ctnnd2.org/
- Catalog of human genes and genetic disorders – CTNND2
- https://www.ncbi.nlm.nih.gov/medgen/58731