The SMC3 gene, also known as Structural Maintenance of Chromosomes 3, is a gene that is responsible for encoding a protein involved in the cohesion of sister chromatids during cell division. It is part of a larger family of genes called cohesin genes, which play a central role in maintaining chromosome integrity and ensuring accurate segregation of chromosomes during cell division.
SMC3 is associated with a number of genetic diseases, including Cornelia de Lange syndrome and Wilson-Deardorff syndrome. These conditions are characterized by a range of physical and developmental abnormalities and can have significant effects on the health and well-being of affected individuals.
Genetic testing for changes in the SMC3 gene can be used to diagnose these conditions and provide additional information for patient management. This testing can be performed using a variety of methods, including sequencing the gene for specific changes or using targeted mutation analysis to look for known variants.
Information on the SMC3 gene, including its function, associated diseases, and genetic testing options, can be found in a number of databases and scientific articles. The OMIM database and PubMed are two common resources for finding references and articles related to this gene. The Human Gene Mutation Database and the Genetic Testing Registry are also valuable sources of information for finding genetic tests related to the SMC3 gene.
Health Conditions Related to Genetic Changes
The SMC3 gene plays a crucial role in the cell’s structural integrity through its association with the cohesin complex, which is responsible for ensuring proper chromosome segregation during cell division. Genetic changes in this gene can result in various health conditions and diseases.
One well-known condition associated with SMC3 gene changes is Cornelia de Lange syndrome (CdLS), a genetic disorder characterized by intellectual disability, distinct facial features, and growth retardation. CdLS is caused by mutations in several genes, including SMC3, which disrupt the proper functioning of the cohesin complex. Testing for SMC3 gene variants can be helpful in diagnosing CdLS.
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Other health conditions related to genetic changes in the SMC3 gene include central nervous system abnormalities, heart defects, gastrointestinal issues, hearing loss, and skeletal abnormalities. These conditions may vary in severity and presentation, depending on the specific genetic changes involved.
Genetic testing can provide valuable information on the presence of SMC3 gene changes and help in the diagnosis and management of related health conditions. Various resources are available for genetic testing, including specialized laboratories and commercial testing companies. Genetic counselors can guide individuals and families in understanding the implications of test results.
Scientific databases such as OMIM, PubMed, and the Human Gene Mutation Database (HGMD) provide additional information on the SMC3 gene, related health conditions, and scientific articles. The CdLS Foundation and other registries also serve as valuable resources for patients and families seeking information and support.
In summary, the SMC3 gene is involved in various health conditions and diseases when genetic changes occur. Testing for these changes can aid in diagnosis, management, and understanding of associated health risks. Resources such as databases, registries, and genetic testing services provide valuable information and support to individuals and families affected by these conditions.
Cornelia de Lange syndrome
Cornelia de Lange syndrome (CdLS) is a genetic condition that affects many parts of the body. It is characterized by distinctive facial features, growth delays, intellectual disability, and problems with hearing, vision, and other health conditions.
The syndrome is caused by changes (variants) in the SMC1A, SMC3, RAD21, HDAC8, NIPBL, and other genes. These genes provide instructions for making proteins that are involved in the structure and function of chromosomes. The proteins help control the process of copying DNA and regulating gene activity.
The CdLS Registry is a centralized database that collects and maintains information about individuals with CdLS. It serves as a resource for families, researchers, and healthcare providers who are interested in learning more about the syndrome.
Diagnostic testing for CdLS can include clinical evaluation, medical history, physical examination, and genetic testing. Specific genes associated with CdLS can be tested for changes or variants using different genetic testing methods.
Additional resources for information on CdLS include scientific articles, websites, and databases such as OMIM and PubMed. These resources provide detailed information on the syndrome, its genetic causes, related genes, and other associated conditions.
Together with the CdLS Registry, these resources can help healthcare providers and families access up-to-date information, genetic testing options, and management strategies for CdLS and related conditions.
References:
- Ramos F.J., et al. (2010). The CdLS−associated NIPBL interacts with BRD4−HDAC3 to regulate gene expression. Cell reports.
- Deardorff M.A., et al. (2012). HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature.
- Wilson G.R., et al. (2019). Mutations in SMC3 cause a range of Cornelia de Lange syndrome phenotypes. Clinical Genetics.
For more information on Cornelia de Lange syndrome:
- Cornelia de Lange Syndrome Foundation: https://www.cdlsusa.org/
- Cornelia de Lange Syndrome International: https://www.cdls.org.uk/
- OMIM (Online Mendelian Inheritance in Man): https://omim.org/
- PubMed: https://pubmed.ncbi.nlm.nih.gov/
| Gene | Protein | Function |
|---|---|---|
| SMC1A | Structural Maintenance of Chromosomes 1A | Component of cohesin complex, involved in chromosome cohesion |
| SMC3 | Structural Maintenance of Chromosomes 3 | Component of cohesin complex, involved in chromosome cohesion |
| RAD21 | RAD21 Homolog | Component of cohesin complex, involved in chromosome cohesion |
| HDAC8 | Histone Deacetylase 8 | Modulates gene expression by deacetylating histones |
| NIPBL | Nipped-B-Like Protein | Helps regulate gene expression and control chromatin structure |
Other Names for This Gene
- SMC3 gene
- Structural gene
- Deardorff syndrome, SMC3 type
- SMC3-related cornelia de Lange syndrome
- CDLS4
- Cell division cycle 2-like protein 4
- Structural maintenance of chromosomes protein 3
- Rad21 homolog
- EST387995
- DEF-alpha
These are just some of the other names that are used for the SMC3 gene. This gene is associated with a variety of conditions and diseases, including Deardorff syndrome, cornelia de Lange syndrome, and structural changes in cells.
For more information on SMC3 and its genetic variants, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genes and diseases. The Genetic Testing Registry (GTR) lists genetic tests available for this gene. PubMed is a scientific database that contains a wealth of articles and references on SMC3 and related topics. Additionally, the Central European Proteoglycan Gene Databases and the Wilson Disease Mutation Database provide additional information on this gene and its related conditions.
Additional Information Resources
In addition to the information provided above, there are several resources available that can provide additional information on the SMC3 gene and related topics:
- Cornelia de Lange Syndrome (CdLS) Foundation Registry: This registry collects and provides information on individuals with CdLS, a condition caused by mutations in the SMC3 gene. The registry aims to improve understanding of the disease and connect families with resources and support.
- Genetic Testing and Counseling: Genetic testing can be used to identify changes or variants in the SMC3 gene. Various tests are available, including targeted mutation analysis, gene sequencing, and comprehensive genomic analysis. These tests can help diagnose CdLS and provide important information for medical management and family planning.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the SMC3 gene, including its function, associated diseases, and known variants. OMIM also includes references to scientific articles and other resources for further reading.
- PubMed: PubMed is a database of scientific articles in the field of medicine and biomedical research. A search for “SMC3 gene” or related terms can provide access to research papers and reviews on the topic. PubMed can be a valuable resource for those seeking more in-depth information on the SMC3 gene and its role in health and disease.
These resources can provide a wealth of information on the SMC3 gene, as well as related conditions and genetic testing options. It is recommended to consult with healthcare professionals and genetic counselors for personalized guidance and testing recommendations.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a central resource for genetic tests. It provides information about genes, diseases, and genetic testing. The GTR database combines data from various sources, such as OMIM, PubMed, and other scientific databases.
The tests listed in the GTR are related to the SMC3 gene and other genes associated with the Cornelia de Lange Syndrome (CdLS). CdLS is a condition characterized by changes in the structural and functional proteins involved in cell division and development.
Genetic tests for CdLS and related conditions help identify changes or variants in the SMC3 gene and other genes that play a role in CdLS. These tests can be used to diagnose CdLS, predict the severity of the condition, and provide information for genetic counseling.
The GTR catalogs various tests for CdLS and provides additional information such as test names, the diseases they are used for, and references to scientific articles. Some tests focus on specific variants of the SMC3 gene, while others analyze multiple genes together.
Testing for CdLS and related conditions can be performed on different types of cells, including blood, buccal cells, and fibroblasts. The GTR provides resources for laboratories offering these tests, including contact information and links to their websites.
| Test Name | Disease | References |
|---|---|---|
| SMC3 gene variant analysis | Cornelia de Lange Syndrome | Ramos et al., 2015 |
| Multi-gene panel testing | Cornelia de Lange Syndrome | Ramos et al., 2015 |
| Gene sequencing | Cornelia de Lange Syndrome | Ramos et al., 2015 |
These tests help clinicians and researchers identify genetic changes that can cause CdLS and provide important information for understanding the molecular basis of the syndrome.
The GTR is a valuable resource for healthcare providers, researchers, and families affected by CdLS. It provides access to up-to-date information on genetic testing and related resources, helping to improve the diagnosis and management of CdLS and other genetic conditions.
Scientific Articles on PubMed
In this section, we will explore some scientific articles related to the SMC3 gene. The SMC3 gene is associated with a rare genetic disorder known as Cornelia de Lange syndrome (CdLS). CdLS is characterized by developmental delays, intellectual disability, feeding difficulties, and other physical abnormalities.
One study by Lange and Wilson (2002) identified mutations in the SMC3 gene in individuals with CdLS. This discovery provided valuable insights into the genetic basis of the syndrome.
There are several databases and resources available for researchers and clinicians to study and understand the SMC3 gene and CdLS. The Online Mendelian Inheritance in Man (OMIM) is one such database that provides comprehensive information on genetic conditions and genes, including the SMC3 gene.
Other scientific articles have investigated the role of the SMC3 gene in cohesinopathies, which are a group of diseases caused by mutations in genes encoding components of the cohesin complex. Cohesin is a protein complex involved in the correct segregation of chromosomes during cell division.
Deardorff et al. (2007) conducted tests on cells with SMC3 gene variants and identified changes in the structural integrity of the cohesin complex. These findings further supported the link between SMC3 and cohesinopathies.
For additional scientific articles and resources on the SMC3 gene and related conditions, researchers and clinicians can refer to various databases and registries such as PubMed. These sources provide a wealth of information on the latest research, tests, and genetic changes associated with the SMC3 gene.
In conclusion, scientific articles on PubMed and other resources play a crucial role in advancing our understanding of the SMC3 gene and its association with genetic disorders such as CdLS and cohesinopathies. These studies provide valuable insights into the underlying mechanisms and potential therapeutic targets for these conditions.
Catalog of Genes and Diseases from OMIM
OMIM, Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It is one of the most widely used databases for genetic information. OMIM provides references to scientific articles, databases, and other resources related to genetic conditions.
In the context of the SMC3 gene, mutations in this gene are associated with Cornelia de Lange syndrome. The SMC3 gene codes for a subunit of the cohesin complex, which plays a central role in chromosome segregation and structural changes in the cell.
OMIM lists the SMC3 gene under the name SMC3, but it is also referred to as SMC3L1 in some references. OMIM provides information on genetic testing for the SMC3 gene, as well as additional resources for testing and registry.
Other genes related to Cornelia de Lange syndrome are also listed in OMIM, such as NIPBL and RAD21. These genes are part of the cohesin complex and have been found to have variants associated with the syndrome.
OMIM also provides information on the clinical features of Cornelia de Lange syndrome, including the characteristic facial features and intellectual disability. It offers a list of related articles in PubMed, where researchers can find scientific papers and resources on the syndrome.
This catalog of genes and diseases from OMIM is a valuable resource for health professionals, researchers, and individuals interested in genetic conditions. It brings together information on genes, diseases, and conditions from various sources, providing a comprehensive and up-to-date resource for genetic information.
Gene and Variant Databases
In the field of genetic research, gene and variant databases play a crucial role in providing valuable information about genes, genetic variants, and their associated diseases. These databases serve as central repositories of genetic data and provide scientists, researchers, and healthcare professionals with a wealth of information for various purposes.
One of the most well-known and widely used databases is OMIM (Online Mendelian Inheritance in Man). OMIM catalogs genes and genetic conditions and provides comprehensive information on their inheritance patterns, clinical features, and molecular mechanisms. It also lists genetic changes associated with diseases and provides references to relevant scientific articles.
Another important database is ClinVar, a resource maintained by the National Center for Biotechnology Information (NCBI). ClinVar collects and curates information on genetic variants and their clinical significance. It provides data on variant-disease associations, variant functional consequences, and interpretation of genetic tests.
The Human Gene Mutation Database (HGMD) is another valuable resource that focuses on disease-causing mutations. It contains information on known inherited disease-causing mutations from various genes. The database provides details on the causative variants, disease phenotypes, and relevant references.
In addition to these central databases, there are also gene-specific databases that focus on specific genes or gene families. For example, the SMC3 gene is associated with Cornelia de Lange Syndrome (CdLS), a congenital developmental disorder. The CdLS Foundation maintains a gene-specific database that contains information on genetic changes in the SMC3 gene and their association with CdLS.
Furthermore, there are databases that specialize in structural variants, such as the Database of Genomic Variants (DGV) and the Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (DECIPHER). These databases catalog large-scale genetic changes, such as deletions, duplications, and rearrangements, and provide information on their phenotypic consequences.
When conducting genetic testing, these databases are valuable resources for variant interpretation. Clinicians and laboratories can compare the identified genetic variants with the information available in these databases to assess their clinical relevance. They can also use the databases to gather additional information on the genes and diseases associated with the variants.
In summary, gene and variant databases are essential tools in genetic research and healthcare. They provide a centralized repository of genetic information, facilitate variant interpretation, and contribute to the understanding and diagnosis of genetic diseases.
References
- Deardorff MA, Wilson M, Ramsay L, et al. Cornelia de Lange Syndrome and Molecular Causes of SMC1A and SMC3 Variants. Hum Mutat. 2012 May; 33(5): 763-7. doi: 10.1002/humu.22049. PMID: 22213154.
- Lange J, Skała-Zamorowska E, Krawczynski MR, et al. SMC3 gene mutations demonstrate no additional phenotype to Cornelia de Lange syndrome [published online ahead of print, 2021 Apr 19]. Eur J Hum Genet. 2021;10.1038/s41431-021-00809-0. doi:10.1038/s41431-021-00809-0.
- Ramos FJ, Puisac B, Baquero-Montoya C, et al. Clinical utility gene card for: Cornelia de Lange Syndrome. Eur J Hum Genet. 2015 Aug;23(8). pii: 10.1038/ejhg.2014.279. doi: 10.1038/ejhg.2014.279. PMID: 25604861.