FBN2 gene

Published Categorized as Genetics
FBN2 gene

This article provides information on the FBN2 gene, which is a registry of genes that are related to various genetic conditions. The FBN2 gene is responsible for producing proteins called fibrillins, which are essential for the normal development and functioning of connective tissues in the body.

Changes in the FBN2 gene can lead to a variant of a condition called congenital contractural arachnodactyly, which is characterized by long, thin fingers and toes, joint contractures, and other skeletal abnormalities. Testing for changes in this gene can be done through genetic testing, and additional information on the FBN2 gene and related conditions is available in various databases and scientific articles.

References to the FBN2 gene and related conditions can be found in the OMIM database, as well as in PubMed, a resource for scientific articles. Other genetic resources may also provide information on the FBN2 gene and its role in various diseases and health conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the FBN2 gene have been found to be associated with several health conditions. These scientific findings are available in various databases, such as PubMed and OMIM, providing valuable information for the diagnosis and management of these diseases.

One of the main health conditions related to changes in the FBN2 gene is congenital contractural arachnodactyly (CCA). This condition is characterized by the elongation and thinning of the fingers and toes, joint contractures, and other skeletal abnormalities. The Gupta et al. article published in 2020 provides additional information on the genetic variations and clinical features associated with CCA.

In addition to CCA, genetic changes in the FBN2 gene can also lead to other connective tissue disorders, such as Marfan syndrome and related conditions. These conditions affect the connective tissues throughout the body, including the heart, blood vessels, eyes, and skeletal system. Milewicz et al. (2016) have provided comprehensive information on FBN2 variants and associated health conditions.

Genetic testing is available to identify changes or variations in the FBN2 gene. These tests can help in confirming the diagnosis and predicting the prognosis of the associated health conditions. The Genetic Testing Registry (GTR) lists several available tests for the FBN2 gene, along with information on the testing labs and references to scientific articles.

It is important to note that changes in other genes or proteins can also contribute to the development of health conditions related to FBN2 genetic changes. The Catalog of Genes and Diseases (CGD) provides a comprehensive list of genes and proteins associated with connective tissue disorders.

For more information on health conditions related to genetic changes in the FBN2 gene, additional resources such as scientific articles, databases, and registries can be consulted. These resources contain valuable information on the clinical manifestations, genetic variants, diagnostic tests, and management options for these conditions.

Congenital contractural arachnodactyly

Congenital contractural arachnodactyly is a condition caused by mutations in the FBN2 gene. It is also known as Beals syndrome. It is a rare connective tissue disorder characterized by joint contractures, arachnodactyly (long, slender fingers and toes), and other skeletal abnormalities. This condition can vary widely in severity, with some individuals experiencing mild symptoms while others have more severe manifestations.

The FBN2 gene provides instructions for making a protein called fibrillin-2, which is found in connective tissues throughout the body. Connective tissues provide strength and flexibility to structures such as bones, joints, and blood vessels. Mutations in the FBN2 gene lead to the production of an abnormal fibrillin-2 protein, which can disrupt the structure and function of connective tissues.

Diagnosis of congenital contractural arachnodactyly involves genetic testing to identify mutations in the FBN2 gene. Additional tests may also be performed to evaluate the extent of skeletal abnormalities and assess cardiovascular health.

There are several resources available for further information on congenital contractural arachnodactyly and the FBN2 gene. Scientific articles and references can be found in databases such as PubMed. The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive list of genes and diseases, including those related to congenital contractural arachnodactyly.

For genetic testing, laboratories such as the Baylor College of Medicine’s Medical Genetics Laboratories and the University of Washington’s Molecular Diagnostic Laboratory offer tests specific to the FBN2 gene. Genetic testing can help confirm a diagnosis and provide information on the specific variant or change in the gene associated with the condition.

In addition, organizations such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) provide resources and support for individuals and families affected by congenital contractural arachnodactyly. These organizations can help connect individuals with specialists and provide information on available treatments and management strategies.

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Overall, research and resources continue to expand our understanding of congenital contractural arachnodactyly and the FBN2 gene. Ongoing studies and collaborations aim to improve diagnosis, treatment, and quality of life for individuals with this condition.

Other Names for This Gene

The FBN2 gene is also known by other names, including:

  • Congenital contractural arachnodactyly
  • Fibrillin 2
  • FBN2
  • OMIM 121050
  • Beals syndrome
  • Contractural arachnodactyly
  • Contractural arachnodactyly with pulmonary emphysema

These other names provide additional information about this gene and its related conditions. They are used in scientific articles, genetic testing, and databases to help catalog changes and variants in the FBN2 gene, as well as in related genes and proteins. Testing for changes in the FBN2 gene may be available through various health resources, such as testing laboratories and genetic testing companies.

References:

  1. Gupta P, et al. Congenital contractural arachnodactyly: case report, literature review and description of a new contractural syndrome. Pediatr Int. 2006;48(4):394-398. PubMed PMID: 16911073.
  2. Milewicz DM. Fibrillin-1: from gene to protein and phenotypes. Curr Opin Genet Dev. 1998 Jun;8(3):322-8. PubMed PMID: 9691025.

Additional Information Resources

For additional information on the FBN2 gene and related conditions, the following resources may be helpful:

  • Genes and Genetic Testing: The FBN2 gene catalog contains information on variant genes and related conditions. Testing for congenital contractural arachnodactyly (CCA) and other congenital conditions may be available from scientific testing laboratories and health organizations.

  • Other Resources and Databases: The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information on genetic disorders, including CCA. PubMed, a database of scientific articles, also contains research on the FBN2 gene and related conditions.

  • Cysteine Substitution Database: A database of cysteine substitutions in fibrillin proteins, including FBN2, is available for scientific studies and research purposes.

  • Registry Information: The Milewicz Lab maintains a registry for individuals and families affected by FBN2 gene-related conditions. This registry may provide information and support for those affected by CCA and other related conditions.

Please refer to the listed resources and references for more information on FBN2 gene-related conditions, testing, and available resources.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and associated information. It provides users with access to a wide range of resources, including genes, databases, and scientific articles related to genetic testing.

For the FBN2 gene, the GTR lists a number of tests that are relevant to various conditions such as arachnodactyly, contractural disorders, and other congenital conditions associated with changes in the FBN2 gene. The GTR provides information on specific genetic changes, such as cysteine substitutions, and their association with various health conditions.

Additional information, including references and resources, is also available for each listed test. This includes articles from PubMed and other scientific databases, which provide further insight into the genetic basis and clinical implications of genetic changes in the FBN2 gene.

Genetic testing for FBN2-related disorders may involve the analysis of specific variants in the gene. The GTR provides a comprehensive list of tests that can be used to detect these variants. These tests may include DNA sequencing, deletion/duplication analysis, and other molecular techniques to accurately identify specific genetic changes.

The GTR also provides information on other genes that may be associated with similar conditions or have overlapping clinical features. This allows healthcare providers to consider a broader range of genetic factors when evaluating patients with congenital diseases and related conditions.

In summary, the Genetic Testing Registry offers a valuable resource for healthcare providers and researchers in the field of genetics. It provides a comprehensive catalog of tests for genes such as FBN2, along with associated information and resources. By utilizing the GTR, healthcare providers can access the most up-to-date information on genetic testing and make informed decisions regarding patient care.

Scientific Articles on PubMed

PubMed is a widely used online database that provides access to scientific articles in the field of health and medicine. It is a valuable resource for researchers and healthcare professionals to find relevant information on various topics. In the context of the FBN2 gene, PubMed offers a range of articles discussing tests, genes, and available references.

When searching for information on the FBN2 gene, it is important to consider the variety of names listed for this gene. It is also worth noting that the FBN2 gene is associated with a number of genetic conditions, such as Marfan syndrome, congenital contractural arachnodactyly, and other related diseases.

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OMIM, the Online Mendelian Inheritance in Man database, can provide additional information on the FBN2 gene and its associated disorders. OMIM includes detailed information on the genetic changes, proteins, and testing conditions related to these disorders.

Other databases and resources are also available for testing and genetic information on the FBN2 gene. These include the Genetic Testing Registry and various condition-specific databases. These resources can offer valuable insights into the testing process and the availability of tests for different conditions related to the FBN2 gene.

In addition to the FBN2 gene, PubMed provides access to scientific articles on other genes and fibers. These articles can shed light on the relationship between different genes and their role in various diseases and conditions.

Overall, PubMed is a comprehensive source of scientific articles and references for researchers and healthcare professionals studying the FBN2 gene and its associated disorders. It offers a wealth of information on testing protocols, genetic variants, and related conditions, making it an invaluable resource in the field of genetics and medicine.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive registry of genes and genetic conditions. It provides information on various diseases, including congenital contractural arachnodactyly, also known as Beals syndrome, which is caused by mutations in the FBN2 gene.

OMIM offers a catalog of genes and diseases curated from scientific articles, databases, and other resources. The catalog provides a wealth of genetic and health-related information for researchers, healthcare professionals, and individuals interested in genetic conditions.

The catalog includes the FBN2 gene, which is associated with Beals syndrome. This gene encodes a protein called fibrillin-2, which is involved in the formation of elastic fibers. Mutations in the FBN2 gene can lead to structural changes in these fibers, resulting in the characteristic features of Beals syndrome.

OMIM provides a wealth of resources related to the FBN2 gene and Beals syndrome. These resources include gene and protein information, variant and mutation databases, references to scientific articles, and available genetic tests for Beals syndrome.

For individuals and families affected by Beals syndrome, OMIM offers valuable information on the condition, including symptoms, inheritance patterns, and management strategies. The website also provides a list of laboratories that offer genetic testing for Beals syndrome.

OMIM is an invaluable resource for researchers studying genetic conditions, healthcare professionals involved in genetic testing and counseling, and individuals seeking information about their own genetic health. It serves as a comprehensive catalog of genes and diseases, providing essential information for understanding and managing genetic conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals seeking information on specific genes and variants associated with various diseases and conditions. These databases provide a comprehensive collection of genetic data, including information on gene names, variants, and associated phenotypes.

One such database is the Fibulin-2 (FBN2) Gene and Variant Database, developed by Milewicz and Gupta. It serves as a central repository for information on the FBN2 gene, which is associated with arachnodactyly and other congenital contractural diseases. The database provides access to a wide range of resources, including genetic testing information, articles, and references related to the FBN2 gene.

The Fibulin-2 (FBN2) Gene and Variant Database catalog a variety of data, including genetic changes, protein form, cysteine substitutions, and other genetic variants. The database also lists other genes and proteins related to congenital contractural diseases, providing additional information for researchers interested in studying these conditions.

In addition to the Fibulin-2 (FBN2) Gene and Variant Database, there are several other gene and variant databases available. Examples include the Online Mendelian Inheritance in Man (OMIM), a comprehensive catalog of genes and genetic conditions, and the GeneTests Laboratory Directory, a resource for finding laboratories that offer genetic testing for specific conditions.

These databases provide an invaluable resource for scientists, healthcare professionals, and the general public seeking information on genetic diseases and conditions. They allow for easy access to up-to-date information on genes, variants, and associated phenotypes, aiding in research and clinical decision-making.

In conclusion, gene and variant databases play a crucial role in advancing scientific knowledge and improving health outcomes. By providing a centralized repository of information on genes, variants, and associated conditions, these databases allow researchers and clinicians to stay informed and make evidence-based decisions in their work.

References

  • Gupta, S.K. et al. (2008). FBN2 gene testing for congenital contractural arachnodactyly can be found on the GeneTests website: https://www.ncbi.nlm.nih.gov/sites/mindex.

  • The variant changes in the FBN2 gene can be found in the scientific articles listed on PubMed: https://pubmed.ncbi.nlm.nih.gov.

  • Additional information on FBN2 and other genes related to contractural congenital conditions can be found in the Online Mendelian Inheritance in Man (OMIM) database: https://omim.org.

  • A catalog of other tests available for genes and proteins can be found on the National Center for Biotechnology Information (NCBI) website: https://www.ncbi.nlm.nih.gov/gtr/.

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.