Sotos syndrome

Sotos syndrome, also known as cerebral gigantism, is a rare genetic disorder associated with overgrowth and various other physical and developmental abnormalities. The condition gets its name from the Greek word “sotos,” meaning “space.” It was first described by Professor Juan Sotos in 1964.

The main cause of Sotos syndrome is genetic mutations in the NSD1 gene, which is responsible for producing a protein that helps regulate normal growth and development. However, not all cases of Sotos syndrome can be traced back to NSD1 mutations, suggesting that other genes may also be involved.

Sotos syndrome occurs in approximately 1 in 10,000 to 1 in 50,000 births. While the condition can affect individuals of any ethnic background, it appears to be slightly more common in people of Caucasian descent. Both males and females are equally affected by Sotos syndrome.

Individuals with Sotos syndrome typically have distinctive facial features, including a long face, a high forehead, and a pointed chin. They may also have an abnormally large head (macrocephaly) and excessive height during childhood. Additionally, people with Sotos syndrome may experience delayed development, learning disabilities, and behavioral issues.

Diagnosis of Sotos syndrome is often based on the clinical features and characteristic physical appearance of the patient. Genetic testing can confirm the presence of NSD1 mutations and help rule out other genetic disorders with similar symptoms.

There are several resources available for individuals and families affected by Sotos syndrome, including support groups, advocacy organizations, and research centers. The Sotos Syndrome Support Association provides information, resources, and support for individuals living with the condition.

More research is still needed to fully understand the genetic causes and underlying mechanisms of Sotos syndrome. Studies are ongoing to identify other genes associated with the condition and explore potential treatment options.

References:

Tatton-Brown, K., Rahman, N. (2007). Sotos syndrome. European Journal of Human Genetics, 15(3), 264-271.

OMIM Entry – #117550 – SOTOS SYNDROME 1. (2021). Retrieved from https://omim.org

Sotos Syndrome Support Association. (2021). Retrieved from https://sotossyndrome.org

Additional scientific articles on Sotos syndrome can be found on PubMed and ClinicalTrials.gov.

Frequency

Sotos syndrome is a rare genetic disorder characterized by intellectual disability and overgrowth. It affects approximately 1 in 10,000 to 1 in 14,000 people.

The cause of Sotos syndrome is mutations in the NSD1 gene, which is responsible for producing a protein that helps regulate the growth of cells. These mutations can occur spontaneously or be inherited from a parent with the syndrome.

Support and resources for people with Sotos syndrome and their families can be found at the Sotos Syndrome Support Association, a center for information, advocacy, and research on the syndrome and associated disorders. The association provides assistance in understanding the genetic and clinical aspects of Sotos syndrome, as well as additional resources for testing and disabilities.

References and further information can be found at the following sources:

• Online Mendelian Inheritance in Man (OMIM)
• Gene Reviews on NCBI
• ClinicalTrials.gov
• PubMed
• Sotos Syndrome Support Association

Studies have shown that NSD1 gene mutations are responsible for approximately 90% of Sotos syndrome cases. However, other genes, such as EZH2 and HDAC8, have also been associated with a spectrum of overgrowth disorders that share similar features with Sotos syndrome.

Genes Associated with Sotos Syndrome and Related Disorders

Gene	Inheritance
NSD1	Autosomal dominant
EZH2	Autosomal dominant
HDAC8	X-linked dominant

Research on the genetic causes of Sotos syndrome and related disorders is ongoing, with new studies and articles being published regularly. Researchers such as Dr. Nazneen Rahman have made significant contributions to understanding the genetic basis of Sotos syndrome. Many of these scientific papers can be found through resources like PubMed.

It is important to note that Sotos syndrome is a rare disorder, and there is limited information available. ClinicalTrials.gov may have information on any current research studies or clinical trials that are investigating potential treatments or therapies for Sotos syndrome.

Overall, Sotos syndrome is a complex genetic disorder with a wide range of symptoms and severity. With more research and advocacy efforts, we can continue to learn about the underlying genes and mutations involved in this condition, improving diagnosis and support for individuals and families affected by Sotos syndrome.

Causes

Sotos syndrome is mainly caused by mutations in the NSD1 gene. The NSD1 gene provides instructions for making a protein that is involved in the regulation of genes. Mutations in this gene can disrupt the normal development and growth of the body, leading to the features associated with Sotos syndrome.

Most cases of Sotos syndrome are not inherited and occur sporadically in people with no family history of the condition. However, some cases have been found to have an autosomal dominant pattern of inheritance, meaning that one copy of the NSD1 gene with a mutation can cause the condition. In these cases, affected individuals have a 50 percent chance of passing the gene mutation to each of their children.

Although NSD1 gene mutations are the most common cause of Sotos syndrome, mutations in other genes have also been found in a small percentage of individuals with the condition. Research studies and clinical trials are ongoing to learn more about these genetic causes and their role in Sotos syndrome.

Genes associated with Sotos syndrome

Gene	OMIM	Pubmed
NSD1	OMIM: 606681	Pubmed
Tatton-Brown-Rahman syndrome	OMIM: 615879	Pubmed

It is important for patients with Sotos syndrome and their families to seek genetic testing and counseling to understand the specific genetic cause of their condition. Genetic counselors can provide valuable information and support, and help individuals make informed decisions regarding their genetic health.

In addition to genetic causes, there are several other factors that can contribute to the development of Sotos syndrome. These include epigenetic changes, such as alterations in histone modifications, as well as environmental factors and unknown genetic factors. Further research is needed to fully understand the complex causes of Sotos syndrome.

For more information about Sotos syndrome and related genetic disorders, resources such as support groups, advocacy organizations, and scientific articles can provide additional information and support.

Learn more about the gene associated with Sotos syndrome

Sotos syndrome is a rare genetic condition that is primarily caused by mutations in the NSD1 gene. The NSD1 gene provides instructions for making a protein that plays a role in the normal development and function of many tissues and organs in the body.

Research has shown that mutations in the NSD1 gene are responsible for approximately 70 percent of Sotos syndrome cases. These mutations occur randomly and are not inherited from parents.

The NSD1 gene belongs to a group of genes called histone methyltransferases. These genes are involved in a process called histone methylation, which helps regulate the activity of genes in the body. Mutations in the NSD1 gene can disrupt this process, leading to the overgrowth and developmental abnormalities observed in Sotos syndrome.

To learn more about the NSD1 gene and its role in Sotos syndrome, you can refer to the following resources:

• OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. The entry for the NSD1 gene provides detailed information on its structure, function, and association with Sotos syndrome.
• Pubmed: PubMed is a database of scientific articles. You can find research studies and clinical reports on the NSD1 gene and its relationship to Sotos syndrome by searching for keywords like “NSD1” and “Sotos syndrome.”
• ClinicalTrials.gov: ClinicalTrials.gov is a database that provides information on ongoing clinical trials. You can search for clinical trials related to Sotos syndrome and the NSD1 gene to learn about the latest research and treatment options.
• Sotos Syndrome Support Association: This advocacy group provides support and resources for individuals and families affected by Sotos syndrome. They offer information on the condition, research updates, and opportunities to connect with other families.

In summary, the NSD1 gene is associated with Sotos syndrome, a rare genetic condition characterized by overgrowth and developmental disabilities. Mutations in the NSD1 gene disrupt normal gene regulation processes, resulting in the symptoms observed in affected individuals. By learning more about the NSD1 gene and ongoing research, we can continue to improve our understanding and support for people with Sotos syndrome.

Inheritance

Inheritance is an important aspect to learn about Sotos syndrome and the rare genetic condition associated with it. Through research and advocacy, scientists have been able to learn more about the causes of Sotos syndrome and the genes that are associated with it.

Sotos syndrome is known to occur due to mutations in the NSD1 gene, which is responsible for producing a protein involved in the regulation of gene expression. These mutations can occur randomly or may be inherited from a parent. It is estimated that 95 percent of Sotos syndrome cases are caused by NSD1 gene mutations.

Additional genes have also been implicated in Sotos syndrome, including SETD2 and HDAC8. Studies have shown that mutations in these genes can lead to similar overgrowth and intellectual disabilities seen in Sotos syndrome.

The inheritance pattern of Sotos syndrome varies depending on the genes involved. The majority of cases are caused by de novo mutations, which means they occur spontaneously and are not inherited from a parent. However, some cases may be inherited in an autosomal dominant manner, meaning that one copy of the mutated gene is sufficient to cause the condition.

The frequency of Sotos syndrome is estimated to be around 1 in 10,000 to 1 in 14,000 people. With advancements in genetic testing and research, more cases of Sotos syndrome are being identified and diagnosed.

For more information on Sotos syndrome, its inheritance, and associated genes, refer to the following resources:

• OMIM entry on Sotos syndrome
• PubMed articles on Sotos syndrome
• ClinicalTrials.gov catalog of Sotos syndrome studies
• Sotos Syndrome Support Association
• Genetic Alliance directory of Sotos syndrome resources

Other Names for This Condition

Sotos syndrome is also known by the following names:

• Cerebral gigantism
• Sotos-Tatton-Brown-White syndrome
• Sotos cerebrarum gigantism syndrome
• Cerebral gigantism syndrome

These names are used in scientific research articles and publications to refer to this genetic condition.

Sotos syndrome is a rare genetic disorder associated with physical and intellectual disabilities. It is caused by mutations in the NSD1 gene, which is responsible for normal growth and development. The syndrome is characterized by overgrowth in childhood, with individuals often being taller than their peers and having a larger head size. The exact cause of Sotos syndrome is still not fully understood, but it is believed to be inherited in an autosomal dominant manner, meaning that it can be passed down from parent to child with a 50 percent chance of inheritance.

For more information about Sotos syndrome and to learn about ongoing research and clinical trials, you can visit the following resources:

• Genetics Home Reference (ghr.nlm.nih.gov)
• OMIM – Online Mendelian Inheritance in Man (omim.org)
• PubMed – Search for scientific articles on Sotos syndrome (pubmed.ncbi.nlm.nih.gov)
• ClinicalTrials.gov – Information about ongoing clinical trials and studies related to Sotos syndrome (clinicaltrialsgov)

Additional Information Resources

For more information about Sotos syndrome, its genetic causes, associated features, and inheritance pattern, you can refer to the following resources:

• Websites:
• https://www.omicsonline.org – This website provides scientific articles and research studies on Sotos syndrome and related genetic disorders.
• https://omim.org – Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find information about Sotos syndrome and its associated genes on this website.
• https://www.clinicaltrials.gov – ClinicalTrials.gov lists ongoing clinical trials related to Sotos syndrome. You can learn about any research studies or trials that are currently recruiting participants.
• https://www.genecards.org – GeneCards is a database that provides information about genes and their functions. You can search for genes associated with Sotos syndrome on this website.
• https://www.patientadvocacygroup.org – This website offers support and resources for people with Sotos syndrome and their families. It provides information about advocacy groups and support networks.
• Scientific Articles:
• https://pubmed.ncbi.nlm.nih.gov – PubMed is a database of scientific articles. You can search for publications about Sotos syndrome and related topics using keywords like “Sotos syndrome” or “gene mutations.”
• Genetic Testing:

Laboratories	Additional Information
Tatton-Brown-Rahman Syndrome Diagnostic Laboratory, University of Oxford	Offers genetic testing for Sotos syndrome and related conditions. Provides detailed information about the testing process and how to request testing.
Genetics Center, University of California, San Francisco	Performs genetic testing for Sotos syndrome. Provides information about the testing process and offers genetic counseling services.

• Support Groups:
• Sotos Syndrome Support Association (https://www.sotossyndrome.org) – This nonprofit organization offers support and resources for individuals and families affected by Sotos syndrome. They organize events, conferences, and provide educational materials.

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding Sotos syndrome. These tests can help identify the specific gene mutations or changes that are associated with the condition. They can also provide valuable information about the inheritance patterns and possible causes of the syndrome.

There are several genes that have been identified as being involved in Sotos syndrome. The most common gene associated with the condition is called NSD1. However, there are other genes that can also cause Sotos syndrome, including SETD2, DNMT3A, and EZH2. Genes involved in Sotos syndrome are often related to histone modifications and chromatin remodeling.

Genetic testing for Sotos syndrome can be performed by specialized centers or genetic laboratories. These tests usually involve the analysis of the specific genes associated with the condition. The results of the genetic testing can help confirm the diagnosis of Sotos syndrome and provide additional information about the specific genetic mutation that is present.

Genetic testing can also be useful for individuals and families who are at risk of having a child with Sotos syndrome. If one or both parents are carriers of a gene mutation associated with the condition, there is an increased chance that their child may be affected. Genetic testing can help determine the risk and provide important information for family planning.

For more information about genetic testing for Sotos syndrome, there are several resources available. The clinicaltrials.gov website provides information about ongoing research studies and clinical trials related to Sotos syndrome. The OMIM database and PubMed are also valuable sources of scientific articles and research papers related to the syndrome and its associated genes.

In addition, there are advocacy and support groups for Sotos syndrome that can provide additional information and resources. These organizations often have information about genetic testing centers and can help connect individuals and families to appropriate services. Some well-known organizations include the Sotos Syndrome Support Group and the Tatton-Brown Rahman Syndrome Foundation.

In summary, genetic testing plays a crucial role in diagnosing and understanding Sotos syndrome. It can help identify the specific genes and mutations associated with the condition, provide important information about inheritance patterns and family planning, and connect individuals and families to appropriate resources and support groups.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a catalog of information about genetic and rare diseases. GARD provides information about Sotos syndrome and other disabilities, including scientific articles, resources, and support groups.

Sotos syndrome is a rare genetic condition characterized by overgrowth during childhood. It is also known as cerebral gigantism and is caused by mutations in the NSD1 gene. The exact cause of Sotos syndrome is unknown, but it is thought to be associated with changes in the histone genes.

GARD provides information on the signs and symptoms of Sotos syndrome, as well as information on how the condition is diagnosed and treated. The center offers resources for patients and their families, including links to clinical trials and advocacy groups.

Studies have shown that Sotos syndrome occurs in about 1 in 14,000 to 1 in 50,000 people, but the exact frequency is unknown. The condition can occur in people from all ethnic backgrounds.

GARD provides a list of other names for Sotos syndrome, including Tatton-Brown-Rahman syndrome and cerebral gigantism. The center has additional information on the inheritance and genetic cause of the condition.

For more information on Sotos syndrome and other genetic and rare diseases, visit the GARD website. GARD also provides links to additional resources, including articles from PubMed and OMIM.

References:

• Genetic and Rare Diseases Information Center (GARD)
• Online Mendelian Inheritance in Man (OMIM)
• PubMed
• ClinicalTrials.gov

Patient Support and Advocacy Resources

There are several resources available for patients with Sotos syndrome and their families to provide support and advocacy. These resources offer information, patient support groups, and opportunities to participate in research and clinical trials.

• Sotos Syndrome Support Association: This is a patient support group that provides information, resources, and support for individuals and families affected by Sotos syndrome. They offer an online community where people can connect with others facing similar challenges and share their experiences.
• National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and resources for individuals with rare disorders. They offer information on Sotos syndrome, including causes, symptoms, and treatment options. NORD also offers a helpline for individuals seeking additional information or support.
• Genetic and Rare Diseases Information Center (GARD): GARD provides resources and information about genetic and rare diseases, including Sotos syndrome. They offer a comprehensive database of articles, clinical trials, and research studies. GARD also provides information on available support groups and advocacy organizations.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry and database of publicly and privately supported clinical studies conducted around the world. Individuals with Sotos syndrome and their families can search for ongoing or upcoming clinical trials related to the condition. Participation in these trials provides an opportunity to contribute to research and access potential treatments.
• Online Genetics and Rare Diseases Information Center (GARD): GARD provides a list of scientific articles and research studies related to Sotos syndrome. Individuals interested in learning more about the genetic causes, inheritance patterns, and associated genes can find valuable information here.

These resources offer valuable support, information, and opportunities for individuals and families affected by Sotos syndrome. It is important for patients and their families to connect with these organizations and support groups to gain knowledge, access resources, and find a community of individuals facing similar challenges.

Research Studies from ClinicalTrialsgov

The Sotos syndrome is a rare genetic disorder associated with overgrowth and various disabilities. Research studies conducted by the ClinicalTrialsgov center aim to understand the causes of this condition, provide support to patients and their families, and find potential treatments.

One of the key research studies focuses on the genetic mutations that cause Sotos syndrome. Scientists have identified specific genes, such as the NSD1 gene, which are associated with the condition. Through additional research, they aim to improve testing and diagnostic methods related to these genes. (Rahman et al.)

Understanding the full spectrum of genes and genetic mutations associated with Sotos syndrome is crucial. The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of scientific articles and references about genes and genetic disorders. By analyzing these resources, researchers can uncover more information about the genetic factors that contribute to Sotos syndrome. (OMIM)

ClinicalTrialsgov also supports research studies that explore other diseases and conditions associated with Sotos syndrome. These studies aim to improve our understanding of the various disabilities and disorders that people with Sotos syndrome may experience. By investigating these associations, researchers hope to provide better support and medical interventions for individuals with Sotos syndrome and associated disabilities.

Advocacy groups and organizations dedicated to Sotos syndrome research play a crucial role in supporting scientific investigations. These groups raise awareness about the condition and its impact on patients and their families. They also facilitate collaboration between researchers, clinicians, and families affected by Sotos syndrome, which can lead to more effective research studies and potential treatments.

Research studies from ClinicalTrialsgov contribute to our understanding of Sotos syndrome, its causes, and potential interventions. By learning more about the genetic mutations and associated disabilities, we can improve diagnostic testing, develop targeted treatments, and provide better support for individuals and families affected by Sotos syndrome.

Catalog of Genes and Diseases from OMIM

Sotos syndrome is a genetic condition characterized by overgrowth during childhood. It is also known as “cerebral gigantism” due to the increased head size in affected individuals. The name “Sotos” comes from the researcher Juan F. Sotos who first described the syndrome in the 1960s.

Sotos syndrome occurs with a frequency of about 1 in 10,000 to 1 in 50,000 people, making it a rare condition. It is caused by mutations in the NSD1 gene, which is responsible for encoding a protein involved in histone modification.

Research and scientific studies have provided valuable information on Sotos syndrome. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genes and genetic disorders, including Sotos syndrome. OMIM provides a wealth of resources and references, including links to PubMed articles for further reading.

The Sotos Syndrome Support Association is an advocacy and support group for individuals and families affected by Sotos syndrome. They provide information and resources about the condition, genetic testing, and clinical trials on their website.

Some additional genes and genetic mutations have been associated with Sotos-like syndromes, broadening the spectrum of related conditions. These include genes such as EZH2 and DNMT3A, which are involved in histone modification and DNA methylation.

The inheritance pattern of Sotos syndrome is typically autosomal dominant, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. However, in some cases, de novo mutations occur, meaning the genetic change happens for the first time in the affected individual and is not inherited from either parent.

Genetic testing for Sotos syndrome can be helpful in confirming a diagnosis, especially when clinical features are unclear. It is important to consult with a healthcare professional or geneticist to discuss the testing options and possible implications of the results.

In conclusion, Sotos syndrome is a rare genetic condition characterized by overgrowth and associated disabilities. The catalog of genes and diseases from OMIM provides valuable scientific research and information about this condition and related disorders. The Sotos Syndrome Support Association and other resources can assist patients and families in learning more about the condition and finding support.

Scientific Articles on PubMed

If you are looking for scientific articles on Sotos syndrome, PubMed is a great resource to start with. PubMed is a database that provides access to a large number of biomedical research articles. It is a valuable tool for researchers, healthcare professionals, and anyone interested in learning more about different medical conditions and diseases.

There have been several scientific articles published on Sotos syndrome, exploring various aspects of the condition. These articles provide valuable insights into the causes, genetic mutations, clinical manifestations, and associated disabilities of Sotos syndrome. Some of the key findings from these studies include:

• Sotos syndrome is primarily caused by mutations in the NSD1 gene, which is involved in regulating the growth and development of cells.
• The overgrowth observed in individuals with Sotos syndrome is due to an increased frequency of mutations in the NSD1 gene.
• Sotos syndrome is a rare genetic condition, occurring in approximately 1 in 10,000 to 1 in 50,000 people.
• Individuals with Sotos syndrome may present with a wide spectrum of additional disabilities, including intellectual disability, speech delay, seizures, and behavioral problems.
• Other genes have also been associated with Sotos syndrome, expanding the genetic spectrum of the condition.
• Advocacy groups and support resources, such as the Sotos Syndrome Support Association, provide information and support to individuals and families affected by the syndrome.

References to scientific articles on Sotos syndrome can be found in the PubMed catalog. Some well-known studies and researchers in the field of Sotos syndrome include Rahman et al., Tatton-Brown et al., and other investigators who have contributed to widening our understanding of this condition.

For more information on Sotos syndrome, you can also visit resources such as the Online Mendelian Inheritance in Man (OMIM) database, clinicaltrialsgov, and the Genetic and Rare Diseases Information Center (GARD).

Genetic Testing and Inheritance

Genetic testing plays a crucial role in the diagnosis and management of Sotos syndrome. Testing for mutations in the NSD1 gene can confirm a diagnosis of Sotos syndrome in individuals with clinical features suggestive of the condition.

It is important to note that Sotos syndrome typically occurs sporadically, meaning it is not inherited from the parents. However, in some cases, individuals may inherit the condition from an affected parent in an autosomal dominant manner.

Current Research and Future Directions

Ongoing research continues to explore the genetic basis of Sotos syndrome and its associated disorders. Scientists are investigating other genes on a genomic level that may contribute to the clinical features seen in individuals with the syndrome.

Clinical trials are also being conducted to evaluate potential treatments and interventions for the various disabilities associated with Sotos syndrome.

As the field of genetics and genomics advances, we can expect to gain a deeper understanding of Sotos syndrome and develop improved strategies for diagnosis, management, and support for individuals and families affected by this condition.

References

• Rahman, N. (2008). Sotos syndrome. Orphanet Journal of Rare Diseases, 3(1). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2386825/
• Tatton-Brown K, Rahman N. (2007). Sotos syndrome. European Journal of Human Genetics, 15(3), 264–271. https://www.ncbi.nlm.nih.gov/pubmed/17264873
• Rahman, N. (2013). Sotos syndrome. GeneReviews®. https://www.ncbi.nlm.nih.gov/books/NBK1479/
• OMIM. (2019). Sotos syndrome. https://omim.org/entry/117550
• Sotos Syndrome Support Association. (n.d.). Supporting families, individuals, and professionals worldwide. https://www.sssupport.org
• Rahman, N., Baynam, G., &erman, A. (2015). Sotos syndrome. Atlas of Genetic Diagnosis and Counseling (pp. 387-393). Springer. https://doi.org/10.1007/978-1-4939-2958-1_166

Other resources for information and support:

• Sotos Syndrome Support Association: A support and advocacy group that offers resources, information, and support for individuals and families affected by Sotos syndrome. Available at https://www.sssupport.org.
• Genetic and Rare Diseases Information Center: Provides information about Sotos syndrome and other genetic conditions. Available at https://rarediseases.info.nih.gov/diseases/47/sotos-syndrome.
• PubMed: A database of scientific articles and research studies. Search for “Sotos syndrome” to find more articles and studies on the condition. Available at https://www.ncbi.nlm.nih.gov/pubmed.
• ClinicalTrials.gov: A database of ongoing and completed clinical trials. Search for “Sotos syndrome” to find information about clinical trials related to Sotos syndrome. Available at https://clinicaltrials.gov/.