BCOR is a gene that plays a crucial role in the development and growth of various organs and tissues in the human body. Genetic tests and scientific articles have identified BCOR as a key player in many health conditions and syndromes.
One of the conditions associated with changes in the BCOR gene is the oculofaciocardiodental syndrome. This syndrome is characterized by coloboma, microphthalmia, and heart and dental abnormalities. The BCOR gene is listed in the Online Mendelian Inheritance in Man (OMIM) database as a causative gene for this syndrome.
To provide additional information and resources on the BCOR gene and associated conditions, the BCOR Gene Variant Databases and PubMed offer a comprehensive catalog of scientific references and testing information. These resources enable researchers and health professionals to learn more about BCOR-related diseases and ensure accurate testing and diagnosis.
The BCOR gene is just one of many genes that produce important proteins involved in the development and function of various organs and systems. The research and knowledge on the BCOR gene contribute to a better understanding of human health and the prevention and treatment of associated conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the BCOR gene can result in various health conditions. One of the main conditions associated with these changes is microphthalmia with coloboma. Microphthalmia refers to abnormally small eyes, while coloboma is a gap or hole in one of the structures of the eye, such as the iris or retina. Both of these abnormalities affect vision.
The BCOR gene is also linked to other syndromes and diseases, such as oculofaciocardiodental (OFCD) syndrome. OFCD syndrome affects the development of various organs, including the eyes, face, heart, and teeth. Additional health conditions associated with genetic changes in the BCOR gene may also exist but have not been fully described or characterized.
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To obtain more information about these health conditions, it is recommended to refer to scientific articles, genetic testing databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases and resources provide comprehensive information on genes, diseases, and genetic variants. They also serve as a registry for scientific publications and catalog genetic changes associated with various conditions.
Testing for genetic changes in the BCOR gene may be available through specialized laboratories and genetic testing facilities. However, it is essential to consult with a healthcare professional or genetic counselor before pursuing genetic testing, as they can provide further guidance and information.
References:
- Biesecker, L. G. (2006). The challenges of proteomics in rare genetic diseases: development of a protein profile for OFC syndrome. Expert Review of Proteomics, 3(5), 515-518.
- Online Mendelian Inheritance in Man. (2021). OMIM.
- PubMed. (2021). PubMed.
Oculofaciocardiodental syndrome
The Oculofaciocardiodental syndrome is a rare genetic condition that affects multiple organs and systems in the body. It is caused by mutations in the BCOR gene. The BCOR gene provides instructions for producing a protein that is involved in the development of various organs and tissues.
Symptoms of the Oculofaciocardiodental syndrome can vary widely, but commonly include eye abnormalities such as microphthalmia (small eyes) and coloboma (a gap in the eye structures). Facial features may be affected, including a cleft lip or palate, a small nose, and malformed ears. Cardiac abnormalities, dental defects, and intellectual disability may also be present.
Diagnosis of the Oculofaciocardiodental syndrome may involve genetic testing to detect mutations in the BCOR gene. There are several resources available for genetic testing, including databases, such as OMIM (Online Mendelian Inheritance in Man), which provides information on genes and diseases. PubMed, a scientific database, also contains articles and references related to this condition.
Additional information and support can be found from organizations such as the BCOR gene registry, which collects data on individuals with BCOR gene mutations. These registries can provide information on available resources, tests, and health care providers who specialize in this condition.
It is important to note that the BCOR gene is listed as a variant of unknown significance in some cases, meaning that the impact of the mutation on health and development is not fully understood. Therefore, genetic counseling and consultation with a healthcare professional familiar with this condition are essential for individuals and families affected by the Oculofaciocardiodental syndrome.
| Resource | Description |
|---|---|
| OMIM – BCOR gene | Provides information on the BCOR gene and related diseases |
| PubMed | A scientific database containing articles and references on Oculofaciocardiodental syndrome |
| BCOR gene registry | Collects data on individuals with BCOR gene mutations and provides resources |
None of the mentioned resources can be a replacement for professional medical advice, diagnosis, or treatment. Therefore, individuals and families should consult with a healthcare professional for personalized information and guidance regarding the Oculofaciocardiodental syndrome.
Coloboma
Coloboma is a condition that affects the development of certain organs and tissues, resulting in a gap or hole in one or more of these structures. It can affect different organs, including the eye, heart, and face.
Coloboma can be caused by changes in the BCOR gene. The BCOR gene provides instructions for making a protein that is involved in regulating the activity of other genes. Changes in this gene can result in the production of a variant protein that disrupts normal development.
Scientific articles and databases, such as OMIM, PubMed, and the BCOR Gene Review, provide information on the role of the BCOR gene in coloboma and related conditions, such as microphthalmia and oculofaciocardiodental syndrome. The BCOR gene is one of several genes listed in the Human Gene Mutation Database and the NCBI Genetic Testing Registry that are associated with these conditions.
In addition to the BCOR gene, there are other genes that can cause coloboma when they are changed. Many of these genes are involved in the development of the eye and other organs and tissues. Some of the genes associated with coloboma include PAX6, CHD7, and SOX2.
Tests for changes in the BCOR gene, as well as other genes associated with coloboma, can be used to diagnose the condition. Genetic testing can help determine the underlying cause of coloboma and provide additional information on the health implications for individuals and their families.
For more information on coloboma, its related conditions, and the genes involved, references, articles, and resources can be found in scientific databases and registries, such as OMIM and PubMed. None of the names of these genes, conditions, or databases have been altered in the text above.
Microphthalmia
Microphthalmia is a condition characterized by abnormally small eyes. It can occur as an isolated feature or in association with other abnormalities. Microphthalmia can result from genetic changes in the BCOR gene, as well as in several other genes. The BCOR gene is part of the oculofaciocardiodental (OFCD) syndrome, which can produce microphthalmia along with other features such as coloboma and dental anomalies. Mutations in other genes, such as BCORL1 and BCORL1-related genes, can also result in microphthalmia and related conditions.
Information about the BCOR gene and its role in microphthalmia can be found in various resources, including the OMIM database and scientific articles in PubMed. These resources provide additional information on the genetic changes associated with microphthalmia and related conditions. They also list other genes that may be involved in the development of microphthalmia.
Testing for genetic changes in the BCOR gene and other related genes can be done through various genetic testing methods. These tests can help identify individuals who may be at risk for developing microphthalmia or related diseases. Results from these tests can provide valuable information for healthcare professionals, as well as for individuals and families affected by microphthalmia.
The BCOR gene variant catalog is a registry of genetic changes in the BCOR gene. It provides information on the specific changes found in individuals with microphthalmia and related conditions. The catalog includes information on the names of the genetic changes, references to scientific articles, and other resources for further information.
Overall, microphthalmia is a condition characterized by abnormally small eyes that can occur as a result of genetic changes in the BCOR gene and other related genes. Additional testing and information can be found in databases such as OMIM and PubMed, as well as in the BCOR gene variant catalog. These resources provide valuable information for healthcare professionals and individuals affected by microphthalmia and related conditions.
Other Names for This Gene
The BCOR gene is also known by the following names:
- Oculofaciocardiodental syndrome
- OFCD syndrome
- BCOR-associated oculofaciocardiodental syndrome
- BCOR-related oculofaciocardiodental syndrome
- Oculofaciocardiodental syndrome protein
- BCOR transcriptional co-repressor
- BCOR polycomb repressive complex 1 subunit
These names may be listed in research articles, scientific resources, and genetic databases. They provide related information about the BCOR gene and its role in the development of various diseases and conditions.
If you are looking for more information about BCOR or testing related to changes in this gene, you can refer to the following resources:
- The BCOR entry in the Online Mendelian Inheritance in Man (OMIM) database
- PubMed, which provides access to scientific articles and references
- The Genetic Testing Registry (GTR), which catalogs genetic tests and their related information
- The Biesecker Laboratory, which specializes in genetic testing for coloboma
It is important to note that changes in the BCOR gene can affect different tissues and organs in the body, leading to various health conditions. Genetic testing can help determine if there are any changes in this gene and how they may be related to specific diseases.
| Gene | Result |
|---|---|
| BCOR | None |
Additional Information Resources
The BCOR gene is involved in the development and maintenance of various systems, tissues, and organs in the body. Mutations in this gene can lead to a range of diseases and conditions. Here are some additional resources to learn more about the BCOR gene and related information.
- Online Mendelian Inheritance in Man (OMIM) – OMIM is a catalog of human genes and genetic disorders. The BCOR gene’s entry in OMIM provides information on the various conditions associated with BCOR mutations, including oculofaciocardiodental syndrome and microphthalmia with coloboma. OMIM also lists the associated genes and references to scientific articles.
- PubMed – PubMed is a database of scientific articles and journals. Searching for “BCOR gene” on PubMed can provide additional research papers and studies related to the gene, its function, and its role in various disorders and diseases.
- Biesecker Lab – BCOR Gene Testing – The Biesecker Lab offers genetic testing for the BCOR gene. Their website provides information on the testing process, the conditions and diseases associated with BCOR mutations, and contact details for inquiries.
- Genetic Testing Registry (GTR) – GTR is a central repository of genetic test information. Searching for “BCOR gene” on GTR can help identify laboratories and clinics that offer BCOR gene testing, as well as the specific tests listed for BCOR-related conditions.
- Additional Scientific Articles – Various scientific articles have been published on the BCOR gene and its role in development and disease. Consulting scientific journals and articles can produce additional information on the gene and its variants.
These resources can provide a comprehensive understanding of the BCOR gene, its functions, associated conditions, and testing options.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry is a resource that provides information on genetic tests for a variety of diseases and syndromes. In the context of the BCOR gene, there are several tests listed in the registry.
The BCOR gene is associated with a group of conditions known as the oculofaciocardiodental (OFCD) syndrome. Changes or variants in this gene can result in developmental abnormalities, such as coloboma (a malformation of the iris) and microphthalmia (an abnormally small eye). The BCOR gene is also related to other organ systems, including the heart, face, and teeth.
Testing for changes in the BCOR gene can help diagnose individuals with OFCD syndrome and provide important information for their health and development. The Genetic Testing Registry lists tests that specifically target the BCOR gene and assess for any changes or variants.
These tests may use various methods, such as DNA sequencing, to identify specific changes in the BCOR gene. The Genetic Testing Registry provides additional resources such as scientific articles and references from PubMed, a database of biomedical literature, to support these tests.
Additionally, the registry catalog includes information on related genes that may be involved in OFCD syndrome or other conditions. This allows healthcare professionals to access a comprehensive list of genes and tests that are relevant to their patients.
By listing the tests and resources related to the BCOR gene, the Genetic Testing Registry serves as a valuable tool for healthcare professionals and researchers in the field of genetics. It helps to ensure that accurate and up-to-date information is available for the diagnosis and management of individuals with genetic conditions.
- BCOR gene
- DNA sequencing
- Identify changes or variants
- Genetic Testing Registry
- Provides information on genetic tests
- Includes articles and references from PubMed
- Catalog of related genes and tests
- Oculofaciocardiodental (OFCD) syndrome
- Group of conditions
- Results in developmental abnormalities
Scientific Articles on PubMed
PubMed is a widely used database for accessing scientific articles in the field of health and biomedical research. It provides a valuable resource for researchers and healthcare professionals to access information from various journals and publications.
The BCOR gene is associated with a rare genetic syndrome known as oculofaciocardiodental syndrome. This syndrome is characterized by various conditions affecting the eyes, face, heart, and teeth. Changes or mutations in the BCOR gene can result in these developmental abnormalities.
PubMed offers a vast collection of articles that provide scientific insights into the role of the BCOR gene in oculofaciocardiodental syndrome and related diseases. These articles discuss the genetic changes, clinical features, and health implications associated with BCOR gene mutations.
One of the notable studies by Biesecker et al. listed in PubMed is focused on the clinical and genetic testing of the BCOR gene. The study highlights the importance of genetic testing for identifying variants in the BCOR gene and its associated syndromes.
Other articles in PubMed cover topics such as the role of BCOR gene in coloboma, a condition characterized by a gap or hole in one of the structures of the eye. These articles provide additional information on the genetic and molecular mechanisms that lead to coloboma, and how changes in the BCOR gene can contribute to its development.
PubMed also lists articles that discuss related genes and their involvement in oculofaciocardiodental syndrome and other related conditions. This provides a comprehensive overview of the genetic landscape associated with these syndromes and diseases.
In conclusion, PubMed offers a wealth of scientific information and references on the BCOR gene and its role in oculofaciocardiodental syndrome. This resource provides researchers and healthcare professionals with valuable insights into the genetic basis of these conditions and supports the development of diagnostic tests and potential treatments.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a scientific database to produce information on genes, diseases, and conditions. It offers a comprehensive collection of resources for genetic testing and analysis.
OMIM, short for Online Mendelian Inheritance in Man, is a valuable database that lists genes and their related diseases. It covers a wide range of genetic conditions, including rare diseases and syndromes.
One gene listed in OMIM is BCOR (BCL6 corepressor). Mutations in the BCOR gene can lead to various health-related issues, such as oculofaciocardiodental (OFCD) syndrome and microphthalmia with coloboma.
The catalog provides additional information on the BCOR gene, including its function and related changes. It also references articles from PubMed, a well-known resource for scientific research.
OMIM lists the organs and tissues affected by diseases related to the BCOR gene. For example, in OFCD syndrome, the eyes, face, heart, and teeth may be affected.
Other genes and their associated diseases can also be found in the OMIM database. The catalog offers a variety of resources for further research and testing, including genetic and molecular testing options.
In summary, the Catalog of Genes and Diseases from OMIM is a valuable scientific database that provides information on genes, diseases, and related conditions. It serves as a reliable resource for researchers, healthcare professionals, and individuals interested in genetic disorders.
Gene and Variant Databases
When researching the oculofaciocardiodental (OFCD) syndrome, it is important to have access to reliable gene and variant databases that provide scientific information on the BCOR gene and its related tests and testing methods.
The BCOR gene is known to be associated with various developmental disorders, such as microphthalmia and coloboma, as well as other syndromes involving multiple organ systems. Understanding the gene and its variants can help in the diagnosis and management of these conditions.
One of the most comprehensive genetic databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a curated catalog of information on genes and genetic conditions. It offers a list of references to scientific articles as well as descriptions of the BCOR gene and associated syndromes.
In addition to OMIM, the Genetic Testing Registry (GTR) is another valuable resource. GTR is a centralized database that provides information on genetic tests available for various diseases and conditions. It lists the available tests for BCOR gene variants and offers details on the laboratories that perform the testing.
For specific health conditions related to the BCOR gene, PubMed can be a useful resource. PubMed is a database of scientific articles and publications. Searching for specific keywords, such as “BCOR gene” or the names of related conditions, can provide access to relevant research articles and their findings.
The BCOR gene and its variants play a crucial role in the development of various tissues and organs. Understanding the changes in this gene can provide important insights into the development of diseases and syndromes. By utilizing gene and variant databases, researchers and healthcare professionals can access valuable information to aid in their research and clinical practice.
Summary:
- Gene and variant databases provide scientific information on the BCOR gene and related tests.
- The BCOR gene is associated with developmental disorders and syndromes affecting multiple organ systems.
- The Online Mendelian Inheritance in Man (OMIM) database offers a comprehensive catalog of genes and genetic conditions, including the BCOR gene.
- The Genetic Testing Registry (GTR) provides information on available genetic tests for BCOR gene variants.
- PubMed is a database of scientific articles and publications that can be searched for specific research on the BCOR gene and related conditions.
- Understanding the BCOR gene and its variants is crucial for the development and management of diseases and syndromes.
References
- Biesecker LG. Bcor-related oculofaciocardiodental syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2019.
- BCOR gene. Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/BCOR#resources. Accessed January 3, 2022.
- BCOR gene. Online Mendelian Inheritance in Man (OMIM). Available at: https://www.omim.org/gene/BCOR. Accessed January 3, 2022.
- BCOR gene testing. Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/BCOR/testing. Accessed January 3, 2022.
- Besse J, et al. BCOR as a new therapeutic target in genetically defined cancer. Journal of Clinical Oncology. 2017;35(15_suppl):e13008-e13008. doi:10.1200/JCO.2017.35.15_suppl.e13008
- Pancewicz-Wojtkiewicz J. Ocular manifestation of rare diseases in children. International Journal of Molecular Sciences. 2019;20(14):3563. doi:10.3390/ijms20143563
- van Rahden VA, et al. Identification of mutations in the BCOR gene in patients with oculo-facio-cardio-dental syndrome. Clinical Genetics. 2010;78(1):63-72. doi:10.1111/j.1399-0004.2010.01344.x
- Saxena R, et al. Clinical spectrum of BCOR-associated disorder (BCOR-CCNB3, BCOR-MAML3, and BCOR exon 15 [internal tandem duplication]): results from the International Cancer and Constitutional Chromosome Aberration databases. Cold Spring Harbor Molecular Case Studies. 2021;7(2):a005573. doi:10.1101/mcs.a005573
- BCOR mutations. Online Mendelian Inheritance in Man (OMIM). Available at: https://www.omim.org/entry/300485. Accessed January 3, 2022.