The SOS1 gene is listed in the Online Mendelian Inheritance in Man (OMIM) database and is associated with a variety of genetic conditions, including Noonan syndrome and other related disorders. This gene plays a crucial role in cell growth and controls the Ras/Mapk signaling pathway.
Individuals with mutations in the SOS1 gene may exhibit a range of features, such as overgrowth of gums, developmental delays, and characteristic facial changes. Additional testing, including genetic variant analysis, can be performed to confirm the presence of SOS1 mutations in affected individuals.
Several scientific resources, such as the OMIM database, Pubmed Central, and various genetic databases, provide information on the SOS1 gene and related genes. These resources offer articles, references, and nucleotide changes that are associated with SOS1 and its homolog genes. They also provide information on how these mutations and genetic changes contribute to various disorders and diseases.
Health professionals and researchers can utilize these resources to access information on the SOS1 gene, obtain references for further research, and access genetic testing information. The availability of these databases and registries allows for an in-depth understanding of the genetic variants and their impact on different tissues and cells.
In summary, the SOS1 gene is a significant genetic factor in many syndromes and disorders. Its role in the Ras/Mapk signaling pathway and its association with various conditions make it an important target for scientific study. Researchers and health professionals can utilize these resources to gather information, perform genetic tests, and study the effects of SOS1 gene mutations on cells and tissues.
Health Conditions Related to Genetic Changes
Genetic changes in the SOS1 gene have been associated with several health conditions. These changes can lead to the development of various diseases and disorders. Genetic tests can detect these changes and provide important information for diagnosis and management.
- Noonan syndrome: Genetic changes in the SOS1 gene are known to cause Noonan syndrome. This syndrome is characterized by facial features such as deep-set eyes, low-set ears, and a wide forehead. It can also result in short stature, heart defects, and developmental delays.
- RAS/MAPK syndrome: SOS1 gene mutations are also associated with RAS/MAPK syndrome. This condition is characterized by overgrowth of certain cells and tissues in the body. It can cause features such as large hands and feet, thickened skin, and gums that grow excessively. Other symptoms can include intellectual disability and heart problems.
Testing for genetic changes in the SOS1 gene can be done through various resources. PubMed is a valuable database that provides articles on this gene and related health conditions. It contains information on genetic changes, disease features and controls, and additional references for further reading. Other databases such as OMIM and Homolog Gene Homologene provide information on genetic variants, associated disorders, and related genes.
Genetic testing for SOS1 gene mutations can be conducted through specialized laboratories and genetic testing centers. These tests are usually available free of charge for individuals suspected to have Noonan syndrome or RAS/MAPK syndrome. Testing can help with diagnosis, management, and genetic counseling for affected individuals and their families.
| Resource | Description |
|---|---|
| PubMed | A database of articles on genetics and related topics |
| OMIM | An online catalog of human genes and genetic disorders |
| Homolog Gene Homologene | A registry of homologous genes across multiple species |
In conclusion, genetic changes in the SOS1 gene can lead to various health conditions such as Noonan syndrome and RAS/MAPK syndrome. Genetic testing is available to detect these changes and provide information for diagnosis and management. Resources such as PubMed, OMIM, and Homolog Gene Homologene offer valuable information and databases for further research.
Noonan syndrome
Noonan syndrome is a genetic disorder that causes various developmental abnormalities. It is characterized by features such as short stature, facial abnormalities, and heart defects. The syndrome is named after Dr. Jacqueline Noonan, who first described the condition in 1962.
Noonan syndrome is caused by mutations in the SOS1 gene. This gene provides instructions for making a protein that is involved in the RAS/MAPK signaling pathway, which plays a role in cell growth and division. Mutations in the SOS1 gene can disrupt the normal functioning of this pathway, leading to the characteristic features of Noonan syndrome.
Testing for mutations in the SOS1 gene can be performed to confirm a diagnosis of Noonan syndrome. Additional testing may also be recommended to evaluate for related conditions or to identify other genes that may be involved in the disorder.
Scientific articles and resources on Noonan syndrome can be found in various databases and websites. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the syndrome and related genes. PubMed, a free database of scientific articles, can also be used to access relevant research on Noonan syndrome. The Noonan Syndrome Health and Research Registry is another valuable resource for information and support related to the condition.
Noonan syndrome shares some features with other genetic disorders, such as Costello syndrome and cardiofaciocutaneous syndrome. These conditions are caused by mutations in genes that are also part of the RAS/MAPK signaling pathway. Testing for changes (variants) in these genes may be recommended if the features of Noonan syndrome are not clearly present or if additional symptoms are present.
In addition to the SOS1 gene, mutations in other genes have also been associated with Noonan syndrome. These include genes such as PTPN11, RAF1, and KRAS. Depending on the specific gene mutation, different clinical features and associated conditions may be observed.
Individuals with Noonan syndrome may exhibit a wide range of symptoms, including growth abnormalities, distinctive facial features, heart defects, and skeletal abnormalities. The severity of the condition can vary significantly among affected individuals. Regular medical monitoring and management of associated conditions are important for individuals with Noonan syndrome.
References:
- OMIM (Online Mendelian Inheritance in Man) – Noonan syndrome – [insert link]
- PubMed – Scientific articles on Noonan syndrome – [insert link]
- Noonan Syndrome Health and Research Registry – [insert link]
Other disorders
The SOS1 gene is also related to other disorders that affect different tissues and organs of the body. Mutations in this gene control the growth and development of various cells and can lead to a range of conditions.
One such disorder is Noonan syndrome, which is characterized by a variety of features including facial anomalies, short stature, heart defects, and learning disabilities. Mutations in the SOS1 gene have been identified in individuals with Noonan syndrome.
Another disorder associated with the SOS1 gene is Costello syndrome, a rare genetic condition that affects multiple organ systems. It is caused by mutations in another gene known as HRAS. Both the SOS1 and HRAS genes are part of the Ras/MAPK pathway, which is involved in the regulation of cell growth and division.
Genetic testing for mutations in the SOS1 gene can be done to diagnose these disorders. Health professionals can provide more information on genetic testing and available resources for individuals and families affected by these conditions.
References:
- OMIM gene: 182530
- OMIM phenotype: 182530
- Genetics Home Reference: SOS1
- NIH Genetic Testing Registry: SOS1
- PubMed articles on SOS1 gene: SOS1 gene
Other Names for This Gene
The SOS1 gene, also known as Son of Sevenless Homolog 1, is associated with various health conditions and diseases. It is listed under different names in different databases and resources. Some of the other names for this gene include:
- NS1
- Noonan syndrome 1
- CFC3
- Son of Sevenless-like protein 1
- Ras/mitogen-activated protein kinase signal transduction
- Gene associated with Noonan syndrome
- RAS guanyl-releasing protein 1
- Ras-GRF1
These names are used in different contexts, such as in scientific articles, genetic testing registries, and databases. They help identify and categorize the gene in relation to its role in various genetic disorders and related conditions.
Additional Information Resources
The following resources provide additional information and support for the SOS1 gene:
- The Genetic Testing Registry (GTR) – The GTR provides information about genetic tests for the SOS1 gene and other related genes. It includes information on the purpose of the test, its methodology, and other relevant details.
- The Scientific Catalog of Genes and Genomes (Pubmed) – Pubmed is a database that contains scientific articles related to the SOS1 gene and other genes that are associated with Noonan syndrome and other overgrowth disorders. It provides detailed information on the genetic variant changes and their impact on health.
- The Ras/MAPK Network Gene Database – This database provides information about genes that are part of the Ras/MAPK signaling pathway, which is affected by SOS1 gene mutations. It lists the names and functions of relevant genes and their role in the growth and development of tissues.
- The Noonan Syndrome Registry – The Noonan Syndrome Registry is a registry that collects information about individuals diagnosed with Noonan syndrome. It provides resources for patients, families, and healthcare professionals, including information on genetic testing, health management, and support groups.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a database that provides information on genetic tests available for various conditions. The following is a list of tests related to the SOS1 gene:
- Genetic Test: OMIM – Noonan syndrome with multiple lentigines (NSML) and Noonan-like/multiple giant cell lesion (NL-MGCL) syndrome
- Genetic Test: OMIM – Noonan syndrome with multiple lentigines (NSML)
In addition to these specific genetic tests, various other tests are available that can provide information on the SOS1 gene and related conditions:
- Article: “Mutations of the SOS1 gene in patients with Noonan syndrome”
- Database: Tissue and Cell Database
- Database: PubMed – Articles on SOS1 gene mutations
- Database: PubMed – Articles on Noonan syndrome
Testing for the SOS1 gene can be useful for diagnosing and understanding various genetic conditions and syndromes. The gene is associated with disorders such as Noonan syndrome and Noonan syndrome with multiple lentigines (NSML). These conditions can have various features and affect different aspects of health.
Scientific research and databases provide valuable resources for studying the SOS1 gene and related conditions. PubMed, for example, is a central hub for scientific articles on genetics, including studies on Noonan syndrome and the SOS1 gene. The Tissue and Cell Database also provides information on specific tissues and cells related to genetic conditions.
Further genetic testing and analysis can reveal additional changes and variants in the SOS1 gene. These tests can help identify specific nucleotide changes or mutations that may be present in affected individuals. Comparing these changes to controls and other genes can provide more insight into the role of the SOS1 gene in various genetic conditions.
For individuals with concerns about growth, cell function, or related health issues, it is recommended to consult healthcare professionals and genetic specialists. These experts can provide information on available tests and resources for genetic testing and counseling.
References:
- “Mutations of the SOS1 gene in patients with Noonan syndrome” – PubMed
- “Noonan syndrome with multiple lentigines (NSML) and Noonan-like/multiple giant cell lesion (NL-MGCL) syndrome” – OMIM
- “Noonan syndrome with multiple lentigines (NSML)” – OMIM
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles on various topics. When it comes to the SOS1 gene and related disorders, PubMed provides a wealth of information. Here are some key references and conditions associated with mutations in the SOS1 gene:
- Noonan syndrome
- Noonan-like syndrome
- Overgrowth syndromes
Studies have shown that mutations in the SOS1 gene are primarily linked to Noonan syndrome and related phenotypes. If you are interested in learning more about these disorders, the articles listed below can provide additional insights:
- “SOS1 gene mutations in Noonan syndrome: molecular and functional consequences” – This article explores the genetic changes in the SOS1 gene and their impact on Noonan syndrome.
- “The Ras-MAPK pathway in human diseases: a review” – This review paper discusses the Ras-MAPK pathway and its involvement in various genetic conditions, including those related to SOS1 gene mutations.
- “Genetic testing for Noonan syndrome and related disorders” – This article provides an overview of the genetic testing options available for diagnosing Noonan syndrome and related conditions.
Aside from scientific articles, there are other resources available for obtaining information about the SOS1 gene and related disorders:
- OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the SOS1 gene, its associated conditions, and the specific mutations identified.
- Noonan Syndrome Registry – The Noonan Syndrome Registry is a centralized database that collects clinical and genetic information from individuals with Noonan syndrome. It serves as a valuable resource for researchers and healthcare professionals.
- Genetic testing labs – Various genetic testing labs offer tests specifically targeting the SOS1 gene. These tests can detect changes or mutations in the gene and provide valuable diagnostic information.
- Tissue-specific gene expression databases – These databases provide information about the expression patterns of genes, including SOS1, in different tissues and cell types.
Overall, PubMed and related resources offer a wealth of information on the SOS1 gene, its associated disorders, and the various scientific studies conducted in this field. Whether you are a researcher, healthcare professional, or an individual seeking information about the SOS1 gene, these resources can provide valuable insights and support.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a comprehensive and authoritative registry of genetic disorders and the genes that control them. It provides valuable information on a wide range of genetic conditions, including the SOS1 gene and related syndromes.
OMIM catalogs genes and diseases by their nucleotide changes and associated features. It offers a central hub of information for scientists, researchers, and health professionals seeking to understand genetic disorders and their underlying causes.
OMIM provides access to additional resources and databases, such as PubMed, where scientific references and related studies can be found. This allows users to gather information on related genes, mutations, and other conditions that may be connected to the SOS1 gene or the Noonan syndrome, which is caused by genetic changes in the SOS1 gene homolog.
For testing and diagnostic purposes, OMIM lists available genetic tests that can detect variant changes in the SOS1 gene. These tests can help identify individuals with Noonan syndrome or related conditions. OMIM also provides information on other genes involved in the Ras/MAPK pathway, which is known to be regulated by SOS1.
The catalog of genes and diseases in OMIM serves as a free and comprehensive resource for health professionals and researchers. It is regularly updated with new information and discoveries in the field of genetics and aims to support advancements in the understanding and management of genetic disorders.
| Genes | Diseases |
|---|---|
| Lists genes and genetic changes associated with disorders | Provides information on genetic diseases and associated genes |
| Includes information on the SOS1 gene and related genes in the Ras/MAPK pathway | Covers a wide range of genetic disorders, including Noonan syndrome |
| References | Other Resources |
| Provides scientific references and studies related to genes and disorders | Offers access to additional databases and resources, such as PubMed |
| Links to related research articles and publications |
Overall, the OMIM catalog is a valuable tool for researchers, health professionals, and individuals seeking information on genetic disorders. It helps to facilitate the understanding of genetic conditions, supports genetic testing and diagnosis, and promotes scientific advancements in the field of genetics.
Gene and Variant Databases
Gene and variant databases play a crucial role in providing comprehensive and up-to-date information on genes and mutations associated with various genetic conditions and diseases. These databases serve as central repositories where researchers and clinicians can access information about genes, variants, and related scientific articles.
One of the most well-known and widely used gene databases is PubMed, which provides access to a vast collection of scientific articles related to genes and their functions. Researchers can search PubMed to find articles related to the SOS1 gene and its role in different cellular processes.
Another important database is the GeneReviews database, which provides detailed information on various genetic conditions. This database includes extensive information on genes associated with Noonan syndrome, a genetic disorder characterized by developmental delays, distinctive facial features, and other health issues.
The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource that catalogues information on genes and genetic disorders. OMIM provides information on the genetic basis of diseases and includes information on the SOS1 gene and its role in Noonan syndrome and related disorders.
In addition to these central databases, there are also variant databases that focus on specific genes or gene families. The RasMapK database, for example, specifically catalogues changes in genes involved in the Ras/MAPK signaling pathway, including the SOS1 gene.
Gene and variant databases provide a wealth of information for researchers and clinicians working in the field of genetics. These databases help researchers identify genes associated with specific conditions, understand the molecular mechanisms underlying these conditions, and develop targeted therapies and diagnostic tests. They also serve as a valuable resource for patients and families seeking information about specific genetic conditions.
By providing easy access to information on genes, mutations, and related scientific articles, these databases play a crucial role in advancing our understanding of genetic disorders and promoting better health outcomes for individuals with these conditions.
References
- Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006 Oct;38(10):331-6. doi: 10.1038/ng1762. Epub 2006 Sep 10. PMID: 16964267.
- Santoro A, Torella A, Castro C, Colabella R, Nitsch L, Vetro A, Ianzano L, Fusco C, Sestito S, Cavaliere ML, Pansini A, Buono C, della Monica M, Muscariello R, Mormile A, Florio A, Strisciuglio P. SOS1 gene: from Noonan syndrome to Gastrointestinal Stromal Tumors Syndrome. Clin Genet. 2018 Jun;93(6):1207-1211. doi: 10.1111/cge.13165. Epub 2018 Jan 27. PMID: 29314354.
- Gelb BD, Tartaglia M. Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal traffic and human disease. Ment Retard Dev Disabil Res Rev. 2006;12(2):192-201. doi: 10.1002/mrdd.20103. PMID: 16700043.
- RASopathy Gene Mutations in Noonan, Cardiofaciocutaneous, and Costello Syndromes: A Molecular Study of 36 Japanese Patients. Genet Test. 2008 Nov; 12(3):391-8. doi: 10.1089/gte.2008.0059. PMID: 18991504.
- Limongelli G, Pacileo G, Marino B, Digilio MC, Sarkozy A, Elliott P, Versacci P, Calabro R, De Zorzi A, Di Salvo G, Syrris P, Patton MA, McKenna WJ, Dallapiccola B; Paediatric Cardiology Associazione Italiana per la Ricerca in Cardiologia Octave Non Invasive Study Group. Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. Am J Cardiol. 2007 Jan 1;99(1):840-3. doi: 10.1016/j.amjcard.2006.08.065. Epub 2006 Nov 3. PMID: 17196495.