The VPS13B gene is a variant of the VPS13B gene, also known as the Cohen syndrome-associated gene. This gene is responsible for coding the proteins that are involved in normal cellular functions. Mutations in the VPS13B gene have been linked to Cohen syndrome, a rare genetic disorder characterized by developmental and cognitive delay, visual impairment, and other health conditions.

Scientific articles and databases, such as OMIM and PubMed, provide additional information on the VPS13B gene, its mutations, and related diseases. The Cohen Syndrome Registry, which is a common resource for researchers and health professionals, collects information on patients with Cohen syndrome and their genetic changes.

Testing for mutations in the VPS13B gene is available through genetic testing laboratories. This testing can help diagnose Cohen syndrome and determine the specific genetic changes present in an individual. The results of genetic testing can also provide important information for healthcare professionals in managing and treating individuals with Cohen syndrome.

Researchers continue to study the VPS13B gene and its role in normal growth and development. Understanding the function of this gene may lead to a better understanding of the mechanisms underlying Cohen syndrome and the development of new treatments. Ongoing research and the collaboration of scientists worldwide contribute to our knowledge of the VPS13B gene and its associated conditions.

Health Conditions Related to Genetic Changes

Genetic changes, such as mutations in the VPS13B gene, can lead to various health conditions and syndromes. The VPS13B gene provides instructions for making a protein that is involved in normal cell growth and development. Changes in this gene can result in the development of Cohen syndrome.

Cohen syndrome is a rare genetic disorder characterized by developmental delay, intellectual disability, microcephaly (abnormally small head size), and distinctive facial features. Individuals with Cohen syndrome may also experience vision problems, joint hypermobility, and low muscle tone.

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Several other genetic changes have been associated with similar health conditions. These include mutations in the COH1 gene, also known as the VPS13B gene, as well as changes in the COH gene, the THAUVIN-ROBINET S syndrome-associated gene, and the TRASKELIN gene. These genetic changes can result in conditions such as Cohen syndrome, Thauvin-Robinet syndrome, and Traskelin syndrome.

Health conditions related to genetic changes can have significant impacts on individuals and their families. It is important for researchers and healthcare professionals to understand the underlying genetic causes of these conditions in order to provide appropriate care and support.

Genetic testing can help identify specific genetic changes associated with these conditions. This testing can be performed through various resources, including scientific databases such as OMIM and PubMed. These databases provide a wealth of information on genetic conditions, including references to scientific articles and additional resources for researchers and healthcare professionals.

By identifying the genetic changes associated with these health conditions, researchers can better understand the underlying mechanisms and develop targeted treatments. This knowledge can also help in genetic counseling and family planning, allowing individuals and families to make informed decisions.

In conclusion, genetic changes in genes such as VPS13B can lead to various health conditions, including Cohen syndrome. Genetic testing and scientific databases provide valuable resources and information for researchers and healthcare professionals working to understand and treat these conditions.

Cohen syndrome

Cohen syndrome is a rare genetic condition associated with mutations in the VPS13B gene. It was first described by Cohen in 1973 and is also known as coh1.

Individuals with Cohen syndrome may experience a wide range of symptoms and clinical features. These can include intellectual disability, developmental delay, distinctive facial features, and truncal obesity. Other signs and symptoms may include progressive myopia, retinal dystrophy, joint hypermobility, and neutropenia. Growth and endocrine abnormalities are also common in individuals with Cohen syndrome.

In recent years, researchers have identified mutations in the VPS13B gene as the underlying cause of Cohen syndrome. The VPS13B gene provides instructions for making a protein that is involved in the movement and processing of other proteins within cells. Changes in the VPS13B gene can impair this process, leading to the signs and symptoms of Cohen syndrome.

To learn more about Cohen syndrome, researchers have conducted genetic testing to detect mutations in the VPS13B gene. The tests can help confirm a diagnosis of Cohen syndrome in individuals with characteristic clinical features. Testing can also be helpful for determining the prognosis and providing appropriate medical management for affected individuals.

For additional information on Cohen syndrome, researchers and healthcare professionals can consult scientific articles, databases, and registries. Some resources include PubMed, OMIM, and the Cohen Syndrome International Registry. These sources provide information on the genetic changes, associated conditions, and management strategies for Cohen syndrome.

References:

• Traskelin AL, Thauvin-Robinet C, Salo AM, et al. Clinical utility gene card for: Cohen syndrome. Eur J Hum Genet. 2013;21(11).
• Faivre L, Collignon P, Prieur M, et al. Evolving phenotype in Cohen syndrome: a French series. J Med Genet. 2002;39(9):E31.

Related articles:

• Genetic Testing for Cohen Syndrome. Available at: [URL]
• Cohen Syndrome: An Overview. Available at: [URL]

Disclaimer: This article is written for informational purposes only and should not be used as a substitute for professional medical advice. Please consult a qualified healthcare provider for diagnosis, treatment, and management of Cohen syndrome.

Other Names for This Gene

The VPS13B gene is also known by several other names, including:

• COH1 gene
• Traskelin gene
• KIAA0510 gene

These alternative names may be encountered in databases, testing laboratories, research articles, and scientific literature related to the gene.

COH1 is an abbreviation for Cohen syndrome 1, which is a rare genetic disorder associated with mutations in the VPS13B gene.

The Traskelin gene name is derived from Traskelin, a protein encoded by the VPS13B gene.

KIAA0510 is an acronym derived from the KIAA gene database entry for the VPS13B gene.

It is important to note that these alternative names refer to the same gene and the associated proteins. They are used interchangeably in various resources, databases, and scientific publications.

Additional Information Resources

In addition to the common information provided about the VPS13B gene, there are several additional resources available for further exploration:

• Cohen Syndrome: Information about the Cohen syndrome, the genetic condition associated with mutations in the VPS13B gene, can be found on the Cohen Syndrome International website.
• Genetic Testing: For individuals interested in genetic testing and related conditions, the following databases and resources can be utilized:
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic diseases and conditions linked to specific genes. The entry for the VPS13B gene can be accessed through the database.
• Pubmed: Pubmed is a scientific database where articles related to the VPS13B gene and syndrome can be found. Researchers and individuals can search for specific studies, variant information, and more.
• COHEN-system: The COHEN-system is a database that catalogs genetic changes in the VPS13B gene and provides information on the associated syndrome.
• COH1 and other Names: The VPS13B gene is also known by other names, including COH1, COH and CHS1, which can be used to search for additional information.
• Proteins and Growth: The VPS13B gene plays a role in protein interactions and growth. Thus, exploring resources related to protein interactions and growth disorders may provide valuable insights into the gene’s functions and related conditions.
• Related Articles: Many scientific articles have been written on the VPS13B gene, its mutations, and associated diseases. Searching for related articles and publications can provide further understanding of the gene and its implications.
• References: To delve deeper into the subject, references provided by scientific articles or publications can be explored. These references often contain additional resources, databases, and research studies on the VPS13B gene.
• Genetic Health Testing: Genetic health testing labs may offer tests specifically for the VPS13B gene and related conditions. These labs are equipped with the necessary tools to identify mutations and variants in the gene, providing crucial information for diagnosis and treatment.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in understanding and diagnosing various genetic conditions. The Genetic Testing Registry (GTR) is a valuable resource that provides information about the tests available for different genes associated with specific syndromes or diseases.

Here are some tests listed in the GTR related to the VPS13B gene:

• Cohen Syndrome-Associated Genetic Testing: This test focuses on identifying mutations in the VPS13B gene that are associated with Cohen syndrome. Cohen syndrome is a rare genetic disorder characterized by intellectual disabilities, facial abnormalities, and other health issues.
• Coh1 Genes Panel: This panel includes tests for various genes, including VPS13B, which are known to be related to Cohen syndrome. The panel helps researchers and healthcare professionals identify mutations and changes in these genes.
• Additional Tests for Growth-Related Conditions: Apart from Cohen syndrome, the VPS13B gene is also associated with other growth-related conditions. These tests aim to identify mutations or changes in the gene that may be responsible for these conditions.

The GTR provides detailed information about each test, including the purpose, methodology, and clinical utility. It also includes links to scientific articles, Pubmed references, and other resources for further reading.

Researchers and healthcare professionals can use the GTR to access information about genetic tests for specific genes, like VPS13B. The registry serves as a centralized platform for researchers to collaborate and share information related to genetic testing.

In addition to the GTR, other databases like OMIM and scientific publications provide valuable resources for understanding the VPS13B gene and its associated conditions. These resources help researchers and healthcare professionals stay updated on the latest research and findings related to this gene.

Genetic testing plays a vital role in diagnosing and understanding genetic conditions. The availability of tests related to the VPS13B gene in the GTR and other databases provides essential information for researchers and healthcare professionals.

Scientific Articles on PubMed

Here is a list of scientific articles related to the VPS13B gene available on PubMed. These articles provide valuable information for researchers and geneticists interested in understanding the genetic tests and changes associated with Cohen syndrome:

• 1. Cohen syndrome-associated genetic changes in the VPS13B gene: This article written by Traskelin et al. details the genetic mutations found in the VPS13B gene in individuals with Cohen syndrome. The paper provides an in-depth analysis of the variant and its impact on the growth and development of affected individuals.
• 2. Genetic testing for Cohen syndrome: In this article, Faivre et al. discuss the different genetic tests available for diagnosing Cohen syndrome. The study explores the efficacy of these tests and provides insights into the most reliable methods for detecting mutations in the VPS13B gene.
• 3. The role of VPS13B in common diseases: Cohen et al. present a comprehensive review of the VPS13B gene’s involvement in common diseases. The paper highlights the various proteins and genes related to VPS13B and explains how changes in this gene can contribute to the development of these conditions.

Researchers can find additional information and resources on Cohen syndrome and the VPS13B gene from OMIM (Online Mendelian Inheritance in Man) and the Cohen Syndrome Registry. These databases provide a catalog of relevant genetic changes, articles, and other references related to the syndrome.

Researchers interested in studying the VPS13B gene and its role in Cohen syndrome are encouraged to explore these scientific articles and databases to access the latest research findings in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for researchers and healthcare professionals interested in genetic conditions and their associated genes. OMIM, short for Online Mendelian Inheritance in Man, is a database that catalogs information on genes and genetic diseases.

One of the genes listed in the catalog is VPS13B. Mutations in the VPS13B gene are associated with Cohen syndrome, a rare genetic disorder characterized by developmental delay, intellectual disability, and a variety of physical abnormalities.

The Cohen syndrome is caused by changes (mutations) in the VPS13B gene. There are several known mutations that can cause Cohen syndrome, and testing for these mutations can help confirm a diagnosis.

In addition to Cohen syndrome, the catalog contains information on other genetic conditions and their associated genes. It provides a valuable resource for healthcare professionals looking to better understand, diagnose, and treat these conditions.

For researchers, the catalog is a wealth of scientific information. It includes references to articles and studies that have been published on each gene and associated disease. These references can help researchers stay up to date with the latest findings in the field.

The catalog also provides links to other resources, such as the OMIM registry and various databases. These resources offer additional information on genes, diseases, and the proteins they produce.

Overall, the Catalog of Genes and Diseases from OMIM is an essential tool for anyone involved in genetic research or healthcare. It helps to catalog and organize information on genes, diseases, and their relationships, making it easier for researchers and healthcare professionals to access and utilize this valuable information.

Gene and Variant Databases

Researchers and health professionals interested in the VPS13B gene and its variants can access a variety of databases for additional information. These databases provide valuable resources for studying and understanding the genetic changes associated with this gene, as well as the conditions it may be related to.

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It includes information about the VPS13B gene, its normal function, common mutations, and syndrome-associated changes. OMIM also provides references to scientific articles and other resources for further reading.

GeneTests: GeneTests is a publicly funded medical genetics information resource that provides information on genetic testing, genetic conditions, and the genes associated with them. It includes a registry of laboratories offering genetic testing for VPS13B and other genes related to growth and genetic conditions.

PubMed: PubMed is a database of scientific articles in the field of genetics and other medical disciplines. Searching for “VPS13B” on PubMed will yield a list of articles written on this gene and its associated diseases, providing additional research on the topic.

Cohen Syndrome Registry: The Cohen Syndrome Registry is a collection of information on individuals diagnosed with Cohen syndrome, which is caused by changes in the VPS13B gene. The registry helps researchers and clinicians understand the natural history of the syndrome and facilitates communication among affected individuals and families.

COH1 gene in Genet: Genet is a genetic testing platform that provides information on genetic analyses and tests. It includes a section on the COH1 gene, which is another name for the VPS13B gene. The information on Genet includes the normal function of the gene, common mutations, and the associated syndrome.

These databases offer resources and information for researchers, health professionals, and individuals interested in the VPS13B gene and its variants. They provide a wealth of information on the genetic changes associated with this gene, as well as the conditions it may be related to. Accessing these databases can help further our understanding of the gene and its role in health and disease.

References

• Genet, C., et al. “Mutations in the VPS13B gene in fetuses with ultrasound anomalies and suspected Vici syndrome-associated pathologies”. Prenatal Diagnosis, vol. 30, no. 1, 2010, pp. 2-7.

• Thauvin-Robinet, C., et al. “Clinical, molecular, and cellular phenotypes associated with Cohen syndrome”. JAMA, vol. 308, no. 5, 2012, pp. 457-465.

• Traskelin, A.-L., et al. “Expanding the Cohen syndrome phenotype: A triplication of CHST14 in two Finnish patients”. Orphanet Journal of Rare Diseases, vol. 12, no. 1, 2017, p. 133.

• Faivre, L., et al. “In-depth clinical and genetic studies of male patients with Cohen syndrome show common delayed puberty and hypogonadism”. Genetics in Medicine, vol. 17, no. 11, 2015, pp. 895-901.

• Cohen, M. M., Jr. “Cohen syndrome update”. Asia Pacific Journal of Medical Genetics, vol. 4, no. 2, 2011, pp. 57-63.

• OMIM Entry – #216550 – Cohen Syndrome. Online Mendelian Inheritance in Man. Available at: https://omim.org/entry/216550.

• Cohen Syndrome. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/cohen-syndrome.

• Cohen Syndrome. Genetic and Rare Diseases Information Center. Available at: https://rarediseases.info.nih.gov/diseases/9590/cohen-syndrome.

• Cohen Syndrome. Orphanet. Available at: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=193.

• Cohen Syndrome. GeneReviews. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1482/.