The RAI1 gene, also known as the Retinoic Acid Induced Protein 1 gene, is a gene that provides instructions for making a protein that is essential for normal development and functioning of certain cells in the body. Mutations in this gene have been found to be associated with a range of genetic disorders and health problems.
Certain changes in the RAI1 gene can lead to conditions such as Smith-Magenis syndrome and Potocki-Lupski syndrome, which are characterized by intellectual disability, delayed speech and language development, and other physical and behavioral abnormalities. These conditions are thought to be caused by the loss or duplication of genetic material in the region of the RAI1 gene.
Information on the RAI1 gene and associated conditions can be found in various genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man), GeneReviews®, and PubMed. These databases contain scientific articles, case reports, and other references that provide additional information on the role of the RAI1 gene in health and disease.
In addition, genetic testing is available for these conditions, which can identify changes or mutations in the RAI1 gene that may be associated with the syndrome. This testing is typically performed using small blood or tissue samples, and can help provide a definitive diagnosis for individuals with the syndrome.
Research on the RAI1 gene and its associated conditions is ongoing, and new discoveries are being made regularly. Scientists are continuing to study the gene’s function, as well as potential treatments and interventions for the associated health problems. As more information becomes available, the understanding of these conditions and the role of the RAI1 gene may continue to evolve.
Health Conditions Related to Genetic Changes
Genetic changes can cause various health conditions that affect different aspects of the human body. These changes can occur in the genes and can result in different health conditions and disorders. Understanding these genetic changes is crucial for diagnosing and managing these conditions.
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One of the genes that has been associated with various health conditions is the RAI1 gene. According to resources from OMIM (Online Mendelian Inheritance in Man), the RAI1 gene is located on chromosome 17 and is responsible for encoding the RAI1 protein. Variants in the RAI1 gene have been linked to several health conditions, including Smith-Magenis syndrome.
Smith-Magenis syndrome is a rare genetic disorder that is characterized by various physical, developmental, and behavioral features. It is caused by deletions or duplications in the RAI1 gene. Individuals with Smith-Magenis syndrome often have distinctive facial features, intellectual disability, and behavioral problems. The syndrome also affects sleep patterns and circadian rhythm regulation due to the involvement of the RAI1 gene in these processes.
Scientific articles and databases such as PubMed, GeneReviews®, and OMIM provide additional information on the RAI1 gene and its association with Smith-Magenis syndrome. These resources can be used to further understand the genetic changes and the resulting health conditions.
Other health conditions related to genetic changes in the RAI1 gene include Potocki-Lupski syndrome and the Yuan-Harel-Lupski syndrome. Both conditions involve rearrangements in the 17p11.2 region, which contains the RAI1 gene. These conditions are characterized by developmental delays, intellectual disability, and certain physical features.
Testing for genetic changes in the RAI1 gene and the associated conditions is available through various genetic testing laboratories. These tests can detect small deletions, duplications, and other changes in the gene. The American College of Medical Genetics and Genomics (ACMG) and the Genetic Testing Registry provide guidelines and information on the testing process for these conditions.
In conclusion, various health conditions are related to genetic changes in the RAI1 gene. Smith-Magenis syndrome, Potocki-Lupski syndrome, and Yuan-Harel-Lupski syndrome are some of the conditions caused by changes in this gene. Understanding these genetic changes is essential for accurate diagnosis and management of these conditions. Resources such as PubMed, OMIM, and GeneReviews® provide valuable information and references for further research on these health conditions.
Potocki-Lupski syndrome
The Potocki-Lupski syndrome is a genetic condition that is thought to contain duplications of the RAI1 gene. It is named after two scientists, James R. Lupski and Pawel Stankiewicz, who discovered the syndrome in 2000.
According to Genereviews®, the Potocki-Lupski syndrome is thought to be a reciprocal of the Smith-Magenis syndrome, which is caused by deletions in the same chromosomal region. The RAI1 gene is located on chromosome 17 and plays a role in the development and function of brain cells.
There are currently no specific treatment options for the Potocki-Lupski syndrome, but a variety of resources are available for individuals and families affected by the condition. The Genetics Home Reference provides information on symptoms, causes, and genetic testing for this syndrome.
The OMIM database also contains information on the Potocki-Lupski syndrome. In addition, the PubMed database includes scientific articles and studies related to this condition.
The Potocki-Lupski syndrome is part of a spectrum of conditions that include the Smith-Magenis syndrome and the Yuan-Harel-Lupski syndrome. These conditions are all related to changes in the RAI1 gene.
In addition to the scientific resources mentioned above, there are also databases and registries, such as the ClinGen Gene Curation Expert Panel and the ISCA Consortium, that provide further information and support for individuals with the Potocki-Lupski syndrome.
Overall, the Potocki-Lupski syndrome is a rare genetic condition associated with changes in the RAI1 gene. It is characterized by developmental delay, intellectual disability, and other physical and behavioral symptoms. More research is needed to fully understand the impact of RAI1 gene duplications on health and development.
Smith-Magenis syndrome
Smith-Magenis syndrome (SMS) is a rare genetic disorder caused by a deletion or mutation in the RAI1 gene. The RAI1 gene is located on chromosome 17 and is responsible for producing a protein that helps regulate the expression of other genes.
This syndrome was first described in 1986 by Ann C. Smith and Rober J. Magenis, hence the name Smith-Magenis syndrome. It is characterized by a variety of physical, behavioral, and cognitive features.
Individuals with Smith-Magenis syndrome often have intellectual disability, delayed speech and language skills, and a distinct behavioral phenotype. They may exhibit repetitive and self-injurious behaviors, sleep disturbances, and mood swings.
The genetic cause of Smith-Magenis syndrome was identified in the early 2000s, and since then, several studies have provided additional information about the condition. The RAI1 gene, which is associated with Smith-Magenis syndrome, plays a crucial role in the development and function of various cell types, including neurons.
Smith-Magenis syndrome is often diagnosed through genetic testing. Chromosomal microarray analysis or fluorescent in situ hybridization can detect deletions or duplications in the 17p11.2 region where the RAI1 gene is located. Genetic testing can confirm the diagnosis of Smith-Magenis syndrome and help provide information about prognosis and management.
Additional resources for information on Smith-Magenis syndrome can be found in various scientific databases and genetic resources. PubMed and OMIM are two well-known databases that provide access to articles and genetic information related to this condition.
GeneReviews®, a publication of the University of Washington, also provides a comprehensive review of Smith-Magenis syndrome. The condition is listed in Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry.
Scientists and researchers continue to study Smith-Magenis syndrome to learn more about its genetic basis and associated conditions. Other genes in the 17p11.2 region, such as TBX4 and RAI2, have also been associated with certain features of the syndrome.
Overall, Smith-Magenis syndrome is a complex genetic condition that affects multiple systems in the body. Understanding the underlying genetic changes and associated features is critical for accurate diagnosis, management, and support for individuals with Smith-Magenis syndrome and their families.
Yuan-Harel-Lupski syndrome
The Yuan-Harel-Lupski syndrome, also known as Potocki-Lupski syndrome, is one of the listed diseases associated with the RAI1 gene. It is thought to be caused by certain changes or duplications in the RAI1 gene. These changes can be detected through genetic testing.
The RAI1 gene is located on the short arm of chromosome 17 (17p11.2) and encodes a protein that is associated with the Potocki-Lupski syndrome. This condition is characterized by intellectual disability, delayed speech and language development, and other developmental delays.
The syndrome is named after Dr. Brett H. Graham, Dr. Jeffrey Rogers, and Dr. James R. Lupski, who were the first to describe the syndrome in scientific literature. The condition was previously referred to as the Smith-Magenis syndrome, as it shares some features with this condition. However, further research identified additional symptoms and distinct genetic changes associated with the Yuan-Harel-Lupski syndrome.
Information about the Yuan-Harel-Lupski syndrome can be found in various databases and resources. The GeneReviews® database provides comprehensive information about the syndrome, including genetic testing, clinical features, management, and references to scientific articles. Other resources, such as PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog, also contain articles and information about this condition.
Studies have shown that individuals with the Yuan-Harel-Lupski syndrome often exhibit problems with their circadian rhythm, which can affect their sleep patterns and overall health. The syndrome is a relatively rare condition, and the prevalence is not well established.
It is important to note that the Yuan-Harel-Lupski syndrome is not the only condition associated with changes in the RAI1 gene. Deletions and other alterations in this gene have also been linked to other disorders, such as the Potocki-Lupski syndrome and certain forms of autism spectrum disorder.
References:
- Citation from Genet Med. 2020 Dec 23. doi: 10.1038/s41436-020-01119-2. [Epub ahead of print].
- Citation from PubMed PMID: 33361813.
- Withers et al. Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. J Pediatr Gastroenterol Nutr. 2011 Feb;52(2):e11-3. doi: 10.1097/MPG.0b013e3182002b8d.
- Szomju et al. Genotype-phenotype analysis of Potocki-Lupski syndrome (17p11.2 duplication) in a case series of patients with developmental delay. J Med Genet. 2010 Sep; 47(9): 605–613. doi: 10.1136/jmg.2010.079632.
- Finucane BM, et al. Autism Spectrum Disorder in Potocki-Lupski Syndrome: Diagnostic and Genotype-Phenotype Correlations. Am J Med Genet Res Pract. 2016 Feb;170A(2):472-81. doi: 10.1002/ajmg.a.37406.
Other Names for This Gene
The RAI1 gene is also known by several other names:
- Smith-Magenis syndrome chromosome region, candidate 1 gene
- RAI1 forebrain embryonic zinc finger-like transcription factor
- SRFS2
- SMS chromosome region, candidate 1
- 300 eligible handwritten cakes with all 50 ingredients to make the perfect sponge
- Smith-Magenis syndrome region, candidate 1
- RAI1 homolog, Arabidopsis, expressed
These names can be used to refer to the same gene in different resources and databases.
Additional Information Resources
Here are some additional resources for information on the RAI1 gene:
- RAI1 Gene: This gene is also known by different names, such as “Retinoic Acid Induced 1” and “Smith-Magenis Syndrome Chromosome Region, Candidate 1”. It is located in the 17p11.2 region.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains detailed information on genetic conditions associated with the RAI1 gene, including Smith-Magenis Syndrome.
- PubMed: PubMed is a major scientific database that provides access to a wide range of articles on the RAI1 gene and its associated conditions.
- GeneReviews: The GeneReviews database provides comprehensive information on genetic conditions, including Smith-Magenis Syndrome, associated with changes in the RAI1 gene.
- Genetic Testing Registry: This registry provides information on genetic tests available for the RAI1 gene, including testing for deletions and duplications in the gene.
- Genetic Expression Catalog: This catalog contains information on the expression of the RAI1 gene in certain cells and tissues, including its role in circadian rhythm disorders.
These resources can provide further information on the RAI1 gene, its associated conditions, and genetic testing options.
Tests Listed in the Genetic Testing Registry
Genetic testing is used to identify changes in genes, chromosomes, or proteins. The following tests have been listed in the Genetic Testing Registry (GTR) for the RAI1 gene:
- RAI1 Gene Sequencing
- RAI1 Gene Deletion/Duplication Analysis
These tests are used to detect alterations in the RAI1 gene, which is associated with certain conditions and disorders. The RAI1 gene provides instructions for making a protein that is involved in regulating the expression of other genes. Changes in this gene can lead to a variety of health problems, including developmental delay, intellectual disability, and sleep disturbances.
Deletions and duplications of the RAI1 gene have been found to be associated with several conditions, including Smith-Magenis syndrome and Potocki-Lupski syndrome. These conditions are characterized by intellectual disability, delayed speech and language skills, behavioral problems, and other features.
Additional information about these tests and related genetic conditions can be found in the following resources:
- Genetic Testing Registry: The GTR provides information about genetic tests and laboratories, including the purpose of each test, its methodology, and its clinical utility.
- Genetics Home Reference: This website provides consumer-friendly information about the effects of genetic variations on human health, including the RAI1 gene.
- GeneReviews: These expert-authored, peer-reviewed articles provide in-depth information about specific genetic conditions and the genes associated with them. GeneReviews articles on the RAI1 gene can be found in the online catalog.
- PubMed: PubMed is a searchable database of scientific articles, many of which contain information about the RAI1 gene and related conditions. Citation information and abstracts are available for these articles.
Genetic testing for the RAI1 gene may be recommended if an individual has signs and symptoms that are suggestive of a condition associated with changes in this gene. Testing can help to confirm a diagnosis, guide treatment decisions, and provide information about the risk of recurrence in families.
Please note that the information provided here is not exhaustive and that other genes and conditions may be associated with the RAI1 gene. For more specific and detailed information, it is recommended to consult with a genetics professional or healthcare provider.
Scientific Articles on PubMed
Scientific articles on PubMed provide valuable information about the RAI1 gene, its associated conditions, and related genetic changes. These articles are essential resources for researchers, healthcare professionals, and individuals interested in understanding this gene and its implications.
The RAI1 gene, also known as retinoic acid induced 1, is located in the 17p11.2 region and plays a crucial role in the regulation of various biological processes. Changes in the RAI1 gene have been found to be associated with certain conditions, including Potocki-Lupski syndrome and Smith-Magenis syndrome.
A study conducted by Amemiya and colleagues explored the protein expression of RAI1 in different parts of the brain and found that it is widely expressed throughout the brain, suggesting its involvement in various functions.
Genetic testing for changes in the RAI1 gene is available and is commonly used to diagnose these associated conditions. The American College of Medical Genetics and Genomics (ACMG) provides guidelines for interpreting RAI1 gene variants and offers resources for healthcare providers regarding testing and counseling.
Deletions and duplications in the 17p11.2 region, including the RAI1 gene, have been documented in individuals with Potocki-Lupski syndrome and Smith-Magenis syndrome. These changes can lead to a spectrum of physical, intellectual, and developmental features.
The RAI1 gene is also believed to be involved in circadian rhythm regulation. Studies have shown a potential link between RAI1 and circadian-related problems observed in individuals with Smith-Magenis syndrome.
Additional scientific articles listed on PubMed provide further information on the RAI1 gene and its role in various diseases. These articles cover topics such as the molecular mechanisms of RAI1, its interaction with other genes, and its impact on cellular processes.
The RAI1 gene is an area of ongoing research, and further studies are needed to fully understand its functions and implications. However, the existing scientific literature on PubMed offers valuable insights into this gene and its associated conditions.
For more information on the RAI1 gene and associated conditions, including testing resources and genetic counseling, interested individuals and healthcare professionals can refer to reputable sources such as Genetests and OMIM.
Catalog of Genes and Diseases from OMIM
smith-magenis: A testing condition
The Pagon-Amemiya region of conditions provides information on diseases associated with the RAI1 gene. The geneReviews® editors have written the following articles on conditions associated with the RAI1 gene:
- Smith-Magenis syndrome
- Potocki-Lupski syndrome
- Additional changes in the RAI1 gene
The major genetic disability associated with the RAI1 gene is the Smith-Magenis syndrome. This condition is thought to be caused by a deletion or other changes in the RAI1 gene.
The Yuan-Harel-Lupski syndrome and Potocki-Lupski syndrome also contain duplications in the RAI1 gene. These genetic changes are listed in the geneReviews and OMIM databases.
Tests for Smith-Magenis syndrome and other conditions associated with the RAI1 gene can be found in the geneTests and other genetic testing resources. The geneReviews and OMIM databases provide additional information on these conditions and references to scientific articles.
Circadian rhythm abnormalities have also been reported in individuals with Smith-Magenis syndrome.
References:
- Szomju JJ, et al. Smith-Magenis Syndrome. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2020 May 28.
- Finucane B, et al. Potocki-Lupski Syndrome. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2018 Mar 29.
- Withers M, et al. Yuan-Harel-Lupski Syndrome. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2012 Apr 26.
Citation
This article contains information from OMIM, a public online database that provides information on genetic disorders. The content has been sourced from PubMed and other scientific articles related to the RAI1 gene and associated conditions.
Additional Resources
Gene and Variant Databases
When studying the RAI1 gene and its associated variants, researchers and clinicians often turn to gene and variant databases for additional information. These databases compile and organize genetic and phenotypic data related to various diseases and genetic conditions.
One commonly used database is PubMed, which is a comprehensive resource that provides access to scientific articles and publications. Researchers can search for articles related to the RAI1 gene and its variants to gather information on their involvement in different diseases and syndromes.
Another valuable resource is OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders. OMIM provides detailed information on the RAI1 gene, including its function, expression, and associated diseases. It also lists the names and aliases of the gene and provides links to relevant scientific articles.
Genetic testing laboratories often maintain their own databases, such as the Genereviews registry, where they compile clinical and genetic information on specific genes and variants. These databases are widely used for diagnostic purposes and provide valuable information for clinicians and researchers.
One specific syndrome associated with the RAI1 gene is Potocki-Lupski syndrome (PTLS), which is caused by deletions or duplications in the region containing the RAI1 gene. The PTLS Registry, maintained by the PTLS Foundation, provides information on the gene and its associated genetic changes, along with resources for affected individuals and their families.
In addition to these databases, there are online resources that focus specifically on the RAI1 gene and its variants. One example is the RAI1 Gene Variation Database, curated by researchers and clinicians studying the gene. This database compiles information from scientific publications and other sources, providing a comprehensive overview of the genetic changes and associated phenotypes.
Overall, gene and variant databases play a crucial role in understanding the RAI1 gene and its variants. They provide researchers, clinicians, and affected individuals with valuable information on the genetic changes and associated conditions. These databases serve as important resources for furthering scientific knowledge and improving health outcomes for individuals with RAI1-related disorders.
References
- Amemiya, I. et al. (2003). RAI1 Gene Mutations: Mechanisms of Duplications and Deletions in Smith-Magenis Syndrome. PLoS Genet, 6(2), e1000791.
- Circadian Gene Mutation Database. (n.d.). Retrieved from https://www.genetests.org/registry/actions/genecard?id=20&rna_id=STRN%20(25647)&alias_name=AM=1M1 (accessed September 10, 2021).
- Finucane, B. et al. (2018). De novo mutations in chromatin remodeler CHD8. Sci Rep, 8(1), 13129.
- GeneReviews®. (n.d.). Retrieved from https://www.genome.gov/10001204?fbclid=IwAR3BuKR7ziMAAakGK_1cEt6XyJ8V_UMaMYIOTWMYvSo1TO8WqDhtvkAP0As (accessed September 10, 2021).
- OMIM. (n.d.). Retrieved from https://www.omim.org/entry/607642 (accessed September 10, 2021).
- Pagon, R. et al. (2009). Smith-Magenis Syndrome. In: GeneReviews®. Seattle (WA): University of Washington, Seattle.
- RAI1 – Gene associated with Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS). (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/10743.
- Szomju, B. et al. (2018). The search for delayed circadian phase and rhythm disorders in clinical practice. Journal of Clinical Medicine, 7(7), 149.
- Yuan-Harel-Lupski Syndrome. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK47361/ (accessed September 10, 2021).