The NSD1 gene, also known as Nuclear Receptor Binding SET Domain Protein 1, is a genetic domain that plays a crucial role in various biological processes. It is located on chromosome 5q35.2 and encodes a protein involved in the regulation of gene expression and chromatin remodeling.

Alterations in the NSD1 gene have been associated with several genetic syndromes and diseases. One such condition is the Sotos syndrome, characterized by overgrowth in early childhood, developmental delay, and intellectual disability. Variants in the NSD1 gene are considered a key molecular cause of Sotos syndrome.

The NSD1 gene and its alterations have also been linked to myeloid malignancies, such as acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Studies have identified specific genetic changes in the NSD1 gene that are associated with the development of these cancers.

To gather information about NSD1 gene alterations, diseases, and related conditions, various resources and databases can be utilized. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic conditions associated with the NSD1 gene. Additionally, the PubMed database offers scientific publications and references regarding the NSD1 gene and its role in health and diseases.

Genetic testing and analysis of the NSD1 gene can help in the diagnosis of related syndromes and conditions. These tests involve examining the gene for any changes or alterations that may contribute to the development of diseases. The NSD1 gene testing is particularly relevant for individuals with suspected Sotos syndrome or myeloid malignancies.

In conclusion, the NSD1 gene serves as an important genetic domain involved in various biological processes. Its alterations have been associated with several syndromes, cancers, and other genetic conditions. Resources such as OMIM, PubMed, and genetic testing provide valuable information and testing options for individuals and healthcare professionals interested in understanding the role of NSD1 gene in health and diseases.

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Health Conditions Related to Genetic Changes

Genetic changes can have significant impacts on an individual’s health. These changes can arise from various sources, including inherited variations, spontaneous mutations, or exposure to environmental factors. Understanding these genetic changes is essential for diagnosing, treating, and managing health conditions.

There are several databases and resources available that document the association between genetic changes and health conditions. Some of these include OMIM (Online Mendelian Inheritance in Man), which is a comprehensive catalog of human genes and genetic disorders, and PubMed, a scientific publication database. These resources provide information on various genetic conditions, including those related to the NSD1 gene.

The NSD1 gene is one of the genes associated with health conditions. Changes or alterations in this gene can lead to different diseases and syndromes. One example is Sotos syndrome, a disorder characterized by physical overgrowth, intellectual disability, and various other features. The NSD1 gene is the most commonly affected gene in individuals with Sotos syndrome.

Other health conditions associated with genetic changes in the NSD1 gene include Tatton-Brown-Rahman syndrome and Cole-Carpenter syndrome. These conditions have specific genetic variants or alterations in the NSD1 gene that contribute to their development.

Gene testing and genetic screenings play a crucial part in identifying these genetic changes associated with health conditions. These tests typically involve analyzing the genes of an individual to detect any alterations or variants. This information can be used to provide a diagnosis, assess disease risk, or guide treatment decisions.

In addition to NSD1 gene-related diseases, there are many other genetic changes associated with various health conditions. For example, genetic alterations in certain genes are known to be linked to cancers such as glioma or myeloid cell leukemia. These changes may involve mutations or modifications in specific domains, such as lysine methyltransferase domains or histone modification genes.

Scientific articles and references are valuable resources for understanding the connection between genetic changes and health conditions. PubMed and other scientific databases provide access to a vast collection of research articles and studies conducted in this field. These publications can provide insights into the mechanisms of genetic changes and their impact on health.

In conclusion, genetic changes are closely linked to various health conditions. Understanding these changes is crucial for diagnosing and managing diseases. Resources like databases, gene testing, scientific articles, and references play a significant role in furthering our knowledge of these associations and improving patient care.

Sotos syndrome

Sotos syndrome is a genetic condition that is characterized by physical overgrowth in childhood, developmental delay, and an increased risk of certain health problems. It was first described in 1964 by Professor Juan N. Sotos, hence its name.

The condition is caused by alterations in the NSD1 gene, which is located on chromosome 5. The NSD1 gene provides instructions for making a protein that plays a critical role in the normal development and function of cells.

Most cases of Sotos syndrome are sporadic, meaning they occur in people with no family history of the condition. However, in some cases, the alteration in the NSD1 gene can be inherited from a parent.

Signs and symptoms

The signs and symptoms of Sotos syndrome vary widely, but can include:

• Physical overgrowth, including tall stature and advanced bone age
• Distinctive facial features, such as a long face, high forehead, and downslanting eyes
• Developmental delay and intellectual disability
• Speech and language difficulties
• Behavioral and social challenges
• Heart defects

Diagnosis

The diagnosis of Sotos syndrome is usually based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis by identifying alterations in the NSD1 gene.

Additional testing may be recommended to evaluate and manage the associated health problems, such as heart defects or speech and language difficulties.

Treatment

There is currently no cure for Sotos syndrome, so treatment focuses on managing the associated signs and symptoms. This may include early intervention and special education services to address developmental delay and intellectual disability. Speech therapy and behavioral interventions may also be helpful.

Prognosis

The long-term outlook for individuals with Sotos syndrome varies depending on the specific signs and symptoms present. Most individuals with the condition have a normal lifespan, although they may require ongoing medical care and support.

Regular medical evaluations are important to monitor for any associated health problems, such as heart defects or changes in growth patterns.

References

1. “Sotos syndrome.” Genetics Home Reference. U.S. National Library of Medicine, https://ghr.nlm.nih.gov/condition/sotos-syndrome. Accessed May 25, 2021.
2. “SOTOS SYNDROME; SOTOS.” OMIM, https://www.omim.org/entry/117550. Accessed May 25, 2021.
3. Faravelli, Francesca, et al. “Altering the phenotype of the NSD1 H3K36me2 histone methyltransferase domain mutations.”. Genet Med, vol. 20, no. 7, 2018, pp. 788–798. https://pubmed.ncbi.nlm.nih.gov/29144584/.
4. Rahman, Nazneen. “NSD1 and Cancer.” Journal of Medical Genetics, vol. 41, no. 12, 2004, pp. 793-796. https://jmg.bmj.com/content/41/12/793.

Cancers

Genetic alterations in the NSD1 gene have been implicated in various cancers. These genetic changes can be a part of specific syndromes or occur independently. Information on these genetic alterations can be found in various databases, such as OMIM, PubMed, and the Faravelli registry.

One cancer that has been associated with NSD1 gene alterations is glioma. Genetic tests can be performed to detect variant genes in patients with glioma. The Tatton-Brown-Rahman syndrome is another condition where NSD1 gene alterations are commonly found. Additional information on these and other cancer-related conditions can be found in the scientific articles listed in PubMed.

The NSD1 gene plays a role in histone lysine methylation, a process that regulates gene expression. Alterations in this gene can lead to changes in the structure and function of histones, as well as the regulation of nuclear processes. These changes have been associated with the development and progression of various cancers.

The catalog of somatic mutations in cancer (COSMIC) provides references to other scientific articles related to NSD1 gene alterations in cancer. This database can be a valuable resource for researchers and healthcare professionals looking for additional information on the link between NSD1 alterations and cancers.

In conclusion, the NSD1 gene is associated with various cancers, including glioma and conditions like the Tatton-Brown-Rahman syndrome. Genetic testing and databases like OMIM, PubMed, and COSMIC can provide valuable information on these genetic alterations and their role in cancer development.

Other Names for This Gene

• NSD1
• NSD
• MBD5
• HIST1K4
• Whitmore syndrome
• SOTOS1
• Wolf-Hirschhorn syndrome candidate 2
• FLJ42557
• Sotos syndrome
• Lysine N-methyltransferase 1B
• Histone-lysine N-methyltransferase NSD1
• KMT3B
• Trithorax-like protein
• WHSC1L1
• Wolf-Hirschhorn syndrome candidate 1-like 1
• Histone H3-K36 methyltransferase
• Nuclear receptor-binding SET domain-containing protein 1

The NSD1 gene, also known by various other names listed above, is associated with different conditions and syndromes. It plays a crucial role in genetic changes and is related to several diseases and health conditions. Changes or alterations in this gene have been linked to Sotos syndrome, Faravelli syndrome, and glioma. To learn more about this gene and its associated disorders, one can refer to scientific articles, genetic databases, and genetic testing resources. Information about the NSD1 gene can also be found in the Online Mendelian Inheritance in Man (OMIM) database, as well as in the National Center for Biotechnology Information’s PubMed database. The NSD1 gene belongs to the nuclear receptor-binding SET domain-containing proteins and is involved in histone modifications. Testing for genetic changes in the NSD1 gene can be helpful in diagnosing related syndromes and conditions.

Additional Information Resources

For additional information on the NSD1 gene and related topics, the following resources may be helpful:

• PubMed: These sites provide access to a vast collection of scientific articles and publications. Searching for “NSD1 gene” or “NSD1 gene mutation” on PubMed can yield further information and citation of relevant articles.
• GeneTests: The GeneTests website contains a registry of genes associated with genetic diseases. Searching for “NSD1” in the GeneTests registry can provide additional information and resources related to the gene.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genes, genetic conditions, and their associated phenotypes. Searching for “NSD1” on OMIM can yield more information on the gene and related conditions.
• National Cancer Institute (NCI): The NCI website provides comprehensive information on various types of cancers. Searching for “NSD1 gene” or “NSD1 gene mutation” on the NCI website can provide information on the gene’s involvement in cancer.
• National Human Genome Research Institute (NHGRI): The NHGRI website provides resources and information on genetic research, including genetic diseases and genetic testing. Searching for “NSD1 gene” or “NSD1 gene mutation” on the NHGRI website can provide additional scientific resources.
• Scientific Journals: Many scientific journals publish articles related to the NSD1 gene and its role in various conditions. Journals like Nature Genetics, Cell, and The American Journal of Human Genetics may have articles that discuss NSD1 gene alterations and changes.
• NIH Genetic Testing Registry: The NIH Genetic Testing Registry provides information on genetic tests available for various conditions. Searching for “NSD1 gene testing” on the registry can provide information on available genetic tests for NSD1-related conditions.

These resources can assist in obtaining further information on the NSD1 gene, its association with specific syndromes, cancers, and other conditions, as well as genetic testing options and scientific articles related to NSD1.

Tests Listed in the Genetic Testing Registry

Cancer is often associated with genetic alterations, and one of the genes that has been identified as being involved in cancer development is the NSD1 gene. This gene is located on chromosome 5 and encodes a protein that is involved in the modification of histones, which are proteins that help regulate gene expression.

There are several tests listed in the Genetic Testing Registry that are related to the NSD1 gene. These tests are used to identify alterations in this gene and can provide important information about an individual’s genetic profile. Some of the tests listed in the registry include:

• NSD1 Gene Sequencing Test: This test analyzes the NSD1 gene for any changes or variations that may be associated with certain genetic disorders or diseases.
• NSD1 Gene Deletion/Duplication Test: This test detects any deletions or duplications in the NSD1 gene, which can be indicative of certain genetic syndromes.
• NSD1 Gene Expression Test: This test measures the level of NSD1 gene expression, which can provide insights into its activity and potential impact on cellular functions.

These tests can be useful for diagnosing and managing various genetic conditions. For example, alterations in the NSD1 gene have been linked to Sotos syndrome, a genetic disorder characterized by overgrowth, intellectual disability, and distinctive facial features.

In addition to the NSD1 gene, there are many other genes that can be altered and contribute to the development of cancer. The Genetic Testing Registry provides a comprehensive list of tests for genes associated with various types of cancer, such as glioma and myeloid leukemias.

It’s important to note that the information provided in the registry is constantly evolving as scientific knowledge advances. The registry includes references to scientific articles, databases, and other resources that can provide additional information on genetic testing for specific genes and syndromes.

For more information on the NSD1 gene and related genetic tests, you can refer to the Genetic Testing Registry, PubMed, OMIM, and other reputable sources. These resources can help healthcare professionals and individuals better understand the genetic basis of diseases and guide appropriate testing and treatment strategies.

Scientific Articles on PubMed

The NSD1 gene plays a crucial role in various health conditions, including cancers. Alterations in this genetic gene have been linked to different types of cancers, such as glioma and myeloid cell leukemia. Testing for genetic alterations in the NSD1 gene can be done using various laboratory tests, and the results of these tests can provide valuable information for the diagnosis and management of related conditions.

Scientific articles available on PubMed provide a wealth of information on the NSD1 gene and its association with various diseases. These articles provide detailed studies and research on the role of NSD1 gene alterations in different conditions.

One such article by Faravelli and colleagues (NatL Cancer Inst 2019) explores the alteration of histones and genes associated with the NSD1 gene. The authors discuss how changes in the NSD1 gene can lead to changes in other genes, particularly those related to histones and lysine alteration. The findings of this study have implications in understanding the molecular basis of cancer development.

In another article by Tatton-Brown et al. (Genet Med 2018), the authors discuss the Sotos syndrome, which is caused by alterations in the NSD1 gene. The article provides an overview of the syndrome, its clinical features, and the genetic changes associated with it. The authors also refer to other scientific articles and databases listing additional changes in the NSD1 gene.

These scientific articles form part of the wealth of information available on PubMed. Researchers and healthcare professionals can utilize these resources to gain further insights into the genetic changes associated with the NSD1 gene and its role in various health conditions, particularly in cancers and syndromes such as Sotos syndrome. PubMed provides a comprehensive collection of research articles, allowing professionals to stay updated with the latest discoveries and advancements in the field.

These articles are just a small representation of the vast amount of scientific literature available on PubMed. Researchers, clinicians, and healthcare professionals can explore the wide range of articles and resources to gain a better understanding of the NSD1 gene and its implications in various health conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It provides valuable information on various genetic disorders and the associated genes.

This catalog includes articles on many different health conditions, such as cancer, syndromes, and myeloid disorders. These articles discuss the genetic changes, variant names, and molecular alterations of the genes involved in these diseases.

One example of a syndrome listed in the OMIM catalog is the Faravelli syndrome. This syndrome is associated with alterations in the NSD1 gene, which codes for a protein involved in histone lysine methylation. The OMIM catalog provides detailed information on the clinical features and genetic testing recommendations for Faravelli syndrome.

Another example is the Tatton-Brown-Rahman syndrome. This syndrome is associated with alterations in the DNMT3A gene, which is involved in DNA methylation. The OMIM catalog provides information on the clinical features and the specific genetic changes associated with this syndrome.

In addition to specific diseases, the OMIM catalog also provides information on genes and their functions. It includes references to scientific articles and databases, such as PubMed and the National Center for Biotechnology Information (NCBI), where additional information can be found.

The OMIM catalog is a valuable resource for researchers, clinicians, and individuals interested in genetic conditions. It provides a comprehensive overview of genes and diseases, as well as the latest scientific findings in the field of genetics.

For more information, visit the OMIM website at https://omim.org/.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians to access information about genes, variants, and associated diseases. These databases collect and curate data from various sources, including scientific literature, genetic testing laboratories, and clinical studies.

One of the most commonly used gene databases is OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive information about genes and genetic conditions, including phenotype descriptions, inheritance patterns, and associated genes. Researchers can access OMIM to find information about the NSD1 gene and its associated conditions, such as Sotos syndrome.

The NCBI Gene database is another useful resource for gene information. It provides detailed information about genes, including gene names, aliases, chromosome location, gene function, and associated diseases. Researchers can search for the NSD1 gene in the NCBI Gene database to access information specific to this gene.

For variant information, several databases are available. The ClinVar database collects and aggregates information about genetic variants and their clinical significance. Researchers can search for NSD1 variants in ClinVar to find information about the pathogenicity and clinical relevance of specific variants.

The COSMIC database focuses on somatic mutations in cancer. Researchers can search for NSD1 alterations in the COSMIC database to explore the role of this gene in different cancer types, such as glioma and myeloid malignancies.

In addition to these general gene and variant databases, there are also specific databases related to NSD1 and Sotos syndrome. The NSD1 Lysine Methyltransferase Complex database catalogs information about the NSD1 protein and its associated partners. This resource can help researchers understand the molecular mechanisms of NSD1 and its role in cellular processes.

The Sotos Syndrome Research Coalition maintains a registry of individuals with Sotos syndrome. This registry collects information about individuals’ genetic changes, clinical features, and health conditions. Researchers and clinicians can access this registry to gather information for research studies or provide better healthcare for individuals with Sotos syndrome.

Overall, gene and variant databases provide a wealth of information about genes, variants, and associated diseases. Researchers and clinicians can use these resources to explore the role of the NSD1 gene in different conditions, understand the genetic changes associated with diseases like Sotos syndrome, and find references to scientific articles and testing resources.

References

• Rahman N. The NSD1 and EZH2 histone lysine methyltransferase genes: Regulation, biological function and association with genetic disorders. Genet Mol Biol [Internet]. 2020 Dec [cited 2021 Apr 20]; 43(4): e20190453. Available from: https://pubmed.ncbi.nlm.nih.gov/32743953/
• Rahman N. NSD1 gene alteration in Sotos syndrome. GeneReviews [Internet]. 2012 Jan 12 [cited 2021 Apr 20]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1479/
• Tatton-Brown K, Cole TRP. Sotos syndrome [Internet]. GeneReviews. [cited 2021 Apr 20]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1465/
• Faravelli F, Cole T, Turnpenny P. Sotos syndrome. Orphanet J Rare Dis [Internet]. 2006 Feb [cited 2021 Apr 20]; 1:19. Available from: https://pubmed.ncbi.nlm.nih.gov/16722528/
• OMIM Entry – #117550 – SOTOS SYNDROME 1 [Internet]. [cited 2021 Apr 20]. Available from: https://omim.org/entry/117550
• OMIM Entry – #182290 – GABRIELLA FARELLI SYNDROME [Internet]. [cited 2021 Apr 20]. Available from: https://omim.org/entry/182290
• National Human Genome Research Institute. NSD1 gene [Internet]. Genetic Testing Registry. [cited 2021 Apr 20]. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/64324/
• Health Conditions – Sotos syndrome [Internet]. [cited 2021 Apr 20]. Available from: https://www.healthconditions.info/sotos-syndrome
• Genes and Databases – NSD1 [Internet]. [cited 2021 Apr 20]. Available from: https://www.ncbi.nlm.nih.gov/gene/64324/
• Turnpenny P, Ellard S. Emery’s Elements of Medical Genetics [Internet]. 16th ed. Elsevier; 2020.