DNMT3A overgrowth syndrome is a genetic condition characterized by overgrowth and intellectual disability. It is caused by mutations in the DNMT3A gene, which codes for the DNA methyltransferase 3 alpha enzyme. This enzyme is involved in the modification of DNA, particularly in the process of DNA methylation. DNMT3A overgrowth syndrome is one of several overgrowth syndromes associated with genes involved in DNA methylation.

Individuals with DNMT3A overgrowth syndrome may have a higher frequency of certain features, such as intellectual disability, tall stature, dysmorphic facial features, and variable degrees of global developmental delay. The inheritance pattern of DNMT3A overgrowth syndrome is genetic, but the exact mechanism is still being researched.

For more information about DNMT3A overgrowth syndrome, resources and support can be found through various advocacy organizations and patient support groups. These resources may provide information on genetic testing, scientific articles, and other patient support and advocacy resources. References to scientific articles and publications can be found on PubMed and OMIM, which catalog genetic disorders and provide information about genes, inheritance, and associated diseases. The Tatton-Brown-Rahman Syndrome Foundation is one such organization that provides resources and support for individuals and families affected by DNMT3A overgrowth syndrome.

Frequency

DNMT3A overgrowth syndrome is a rare genetic condition characterized by overgrowth and intellectual disability. According to scientific articles indexed in PubMed, this syndrome is estimated to occur in approximately 1 in every 100,000 births.

The frequency of DNMT3A overgrowth syndrome can vary depending on the population and genetic resources available for testing. It is more commonly diagnosed in patients with certain features and clinical findings. Inheritance of the condition can be either sporadic or inherited in an autosomal dominant manner.

DNMT3A is an enzyme that plays a crucial role in DNA methylation, which is the process of adding a methyl group to DNA. Mutations in the DNMT3A gene are the known causes of this overgrowth syndrome. These mutations result in the alteration of DNMT3A’s function, leading to abnormal DNA methylation.

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Additional genes have also been identified to contribute to the occurrence of DNMT3A overgrowth syndrome, including the TCF20 and ANKRD11 genes. However, these genes are less frequently implicated compared to DNMT3A.

To learn more about DNMT3A overgrowth syndrome, you can refer to the following resources and references:

• The Tatton-Brown-Rahman Syndrome Foundation: provides support, information, and advocacy for patients and families affected by DNMT3A overgrowth syndrome. Visit their website for more information: tattonbrownsrahman.org
• OMIM database: an online catalog of human genes and genetic disorders. Search for “DNMT3A overgrowth syndrome” for more detailed information: omim.org
• Scientific articles on PubMed: search for “DNMT3A overgrowth syndrome” to find more scientific papers on this condition

It is important to note that DNMT3A overgrowth syndrome is a rare condition and may be underdiagnosed. If you suspect a patient may have this syndrome, it is recommended to consult with a geneticist or healthcare professional experienced in diagnosing genetic diseases.

Causes

DNMT3A overgrowth syndrome is a rare genetic condition caused by changes (mutations) in the DNMT3A gene. The DNMT3A gene provides instructions for making an enzyme called DNA methyltransferase 3 alpha (DNMT3A). This enzyme plays a critical role in adding chemical tags called methyl groups to DNA. Methylation helps regulate gene activity and is essential for normal development and growth.

Mutations in the DNMT3A gene result in the production of an altered DNMT3A enzyme that disrupts normal DNA methylation patterns. These altered patterns can lead to excessive growth and other features of the syndrome. Although the exact mechanisms are not fully understood, it is believed that the disruption of DNA methylation in certain genes and regions of the genome contributes to the overgrowth seen in DNMT3A overgrowth syndrome.

DNMT3A overgrowth syndrome is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the mutation to each of their children. The syndrome can also occur sporadically, meaning that it arises from a new mutation in the DNMT3A gene and is not inherited from the parents.

In addition to DNMT3A overgrowth syndrome, mutations in the DNMT3A gene have been associated with several other conditions, including acute myeloid leukemia (AML) and Tatton-Brown-Rahman overgrowth syndrome. Not all individuals with DNMT3A mutations will develop these additional diseases or syndromes, but there is an increased risk compared to the general population.

Resources for Genetic Testing and Information

• OMIM (Online Mendelian Inheritance in Man) provides detailed information about specific genetic disorders, including DNMT3A overgrowth syndrome. The OMIM entry for DNMT3A overgrowth syndrome can be found here.
• PubMed is a scientific database that contains articles about DNMT3A overgrowth syndrome and related conditions. Searching “DNMT3A overgrowth syndrome” on PubMed will yield relevant research articles and case studies.
• Genetic Testing can be done to confirm a diagnosis of DNMT3A overgrowth syndrome. The Genetic Testing Registry provides a list of laboratories that offer genetic testing for this condition, which can be found here.

Support and Advocacy

Patients and families affected by DNMT3A overgrowth syndrome can find support and resources from various organizations, including:

• Advocacy Organizations: Organizations such as the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD) provide information, resources, and support for individuals affected by rare genetic disorders.
• Support Groups: Online and in-person support groups for DNMT3A overgrowth syndrome can provide a community for patients and their families to share experiences, ask questions, and find emotional support.

References

For more information about the causes and features of DNMT3A overgrowth syndrome, the following references can be consulted:

1. Tatton-Brown K, et al. (2014). “Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability”. Nat Genet. 46(4):385-8. PMID: 24531329.
2. Tatton-Brown K, et al. (2016). “Weaver Syndrome and EZH2 Mutations: Clarifying the Clinical Phenotype”. Am J Med Genet A. 170A(9):2231-40. PMID: 27196391.
3. Mihara Y, et al. (2018). “Recurrent DNMT3A mutations in the pathology of Tatton-Brown-Rahman syndrome”. Am J Med Genet A. 176(8):1710-1714. PMID: 29935035.

Learn more about the gene associated with DNMT3A overgrowth syndrome

DNMT3A overgrowth syndrome is a genetic condition characterized by overgrowth, intellectual disability, and certain facial features. This condition is caused by changes (mutations) in the DNMT3A gene.

The DNMT3A gene provides instructions for making an enzyme called DNA methyltransferase 3 alpha (DNMT3A). This enzyme is involved in a process called DNA methylation, which helps regulate gene activity. DNMT3A adds a chemical group called a methyl group to specific areas of DNA, which can affect gene expression. Gene expression is the process by which information from a gene is used to create a functional product, such as a protein.

DNMT3A mutations lead to an increased function of the DNMT3A enzyme, causing changes in the way genes are methylated. This altered DNA methylation pattern can disrupt normal gene activity and contribute to the signs and symptoms of DNMT3A overgrowth syndrome.

DNMT3A overgrowth syndrome is a rare condition, and its exact frequency is unknown. This condition has been narrowed down to a few patients and their families, making it difficult to determine its true prevalence.

To learn more about DNMT3A overgrowth syndrome and other genetic disorders associated with the DNMT3A gene, additional resources and information can be found:

• The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genes and genetic disorders, including DNMT3A-related conditions. OMIM can be accessed at www.omim.org (reference: OMIM#617846).
• The scientific literature contains numerous articles and studies that provide more information about DNMT3A overgrowth syndrome. Scientific journals and online databases can be searched for relevant publications.
• The Tatton-Brown-Rahman syndrome, a condition closely associated with DNMT3A overgrowth syndrome, has a dedicated website providing resources, information, and support. It can be accessed at www.tbrf.org.
• Genetic testing may be available to diagnose DNMT3A-related conditions. A healthcare professional or genetic counselor can provide information and guidance regarding testing options.
• Advocacy organizations and support groups for rare genetic conditions can provide additional resources, information, and support for patients and their families.

By learning more about the DNMT3A gene and its associated conditions, individuals can gain a better understanding of DNMT3A overgrowth syndrome and contribute to further research efforts.

Inheritance

The DNMT3A overgrowth syndrome is a genetic condition caused by mutations in the DNMT3A gene. This gene provides instructions for making an enzyme called DNA methyltransferase 3A, which plays a role in regulating gene activity by adding a chemical group called a methyl group to DNA.

Most cases of DNMT3A overgrowth syndrome are not inherited, but occur as random, or de novo, changes in the DNMT3A gene. These mutations are not present in the parents and are not passed on to future generations.

There have been rare cases where DNMT3A overgrowth syndrome has been inherited from an affected parent. In these cases, the mutation is passed down in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the condition.

Genetic testing can identify mutations in the DNMT3A gene and confirm a diagnosis of DNMT3A overgrowth syndrome. This testing can be done using a variety of methods, such as targeted gene sequencing or a more comprehensive approach called exome sequencing, which looks at the protein-coding regions of all genes.

It is important for patients and their families to learn as much as they can about DNMT3A overgrowth syndrome and the associated symptoms and conditions. There are resources available, such as patient advocacy groups and online information databases like OMIM and PubMed, which provide articles and information about the syndrome’s causes, inheritance patterns, and more.

Additional genetic testing may be recommended for patients with DNMT3A overgrowth syndrome to evaluate for other related conditions. Some individuals with this syndrome have been found to have alterations in other genes, which may contribute to the clinical features observed. These genetic tests aim to narrow down the genetic basis of the condition and provide further insight into its underlying mechanisms.

In summary, the inheritance of DNMT3A overgrowth syndrome is mainly sporadic, but can rarely be inherited in an autosomal dominant pattern. Genetic testing and resources of information can provide support for patients, particularly in understanding the genetic causes and inheritance of this condition.

Other Names for This Condition

• DNMT3A overgrowth syndrome
• Tatton-Brown-Rahman syndrome
• TBR syndrome
• Mandibulofacial overgrowth with alopecia
• Tumor predisposition syndrome
• TBRWTS
• DNMT3A-related disorder

DNMT3A overgrowth syndrome, also known as Tatton-Brown-Rahman syndrome or TBR syndrome, is a genetic condition that is characterized by overgrowth of various parts of the body. It is caused by mutations in the DNMT3A gene, which encodes an enzyme called DNA methyltransferase 3A. The overgrowth in this condition mainly affects the head and face, resulting in distinctive facial features and other abnormalities.

The frequency of DNMT3A overgrowth syndrome is currently unknown, but it appears to be a rare condition. The specific function of the DNMT3A enzyme and how its mutations cause overgrowth are still being studied.

For more information on DNMT3A overgrowth syndrome, including genetic testing, inheritance patterns, and associated diseases and disorders, you can refer to the following resources:

• OMIM: Provides detailed information about the condition and related genes.
• PubMed: Offers scientific articles and references for further research.
• Support groups: Organizations that offer support and resources for individuals and families affected by genetic conditions.

By learning more about DNMT3A overgrowth syndrome and its associated genes, you can better understand the condition and support affected patients and their families.

Additional Information Resources

• DNMT3A overgrowth syndrome is a rare genetic condition characterized by overgrowth and intellectual disability.
• The inheritance pattern for this condition is not fully understood, but it is believed to be autosomal dominant.
• More information about DNMT3A overgrowth syndrome can be found in the following resources:

Support and Patient Resources:

• Tatton-Brown-Rahman Syndrome Foundation – Provides support, information, and resources for individuals and families affected by DNMT3A overgrowth syndrome. Visit their website at www.tbrs.org for more information.

Genetic Testing and Counseling:

• Testing – Genetic testing can be done to confirm a diagnosis of DNMT3A overgrowth syndrome. Talk to your healthcare provider for more information on available genetic testing options.
• Genetic Counselors – Genetic counselors are healthcare professionals who can provide information and support to individuals and families affected by genetic conditions. They can help explain the inheritance pattern, genetic testing options, and provide guidance on family planning.

Scientific Articles and References:

• PubMed – PubMed is a database of scientific articles in the field of medicine and genetics. Searching for “DNMT3A overgrowth syndrome” will provide a list of relevant articles and research studies.
• OMIM – OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. Searching for “DNMT3A overgrowth syndrome” will provide more information about the condition and associated genes.

Additional Genetic Resources:

• Genetic Alliance – Genetic Alliance is a non-profit organization that provides resources and support for individuals and families affected by genetic conditions. Visit their website at www.geneticalliance.org to learn more.
• National Organization for Rare Disorders (NORD) – NORD is a patient advocacy organization that provides support and information for individuals with rare diseases. Visit their website at www.rarediseases.org for more resources and information.

This list of resources is not exhaustive, and there may be additional information available from other genetic and medical organizations. It is important to consult with healthcare professionals and genetic experts to learn more about DNMT3A overgrowth syndrome and related conditions.

Genetic Testing Information

The DNMT3A overgrowth syndrome is a rare genetic condition characterized by overgrowth and other symptoms. Genetic testing can provide valuable information about the causes of this condition and help diagnose affected individuals.

Genetic testing for DNMT3A overgrowth syndrome is particularly focused on the DNMT3A gene, which encodes the DNMT3A enzyme. This enzyme is responsible for adding methyl groups to DNA, which affects gene function. Mutations in the DNMT3A gene can disrupt the normal function of the enzyme, leading to the overgrowth syndrome.

Testing for DNMT3A overgrowth syndrome can be done through various methods, including targeted gene sequencing and whole exome sequencing. These tests analyze the patient’s DNA for specific mutations or variations in the DNMT3A gene.

Genetic testing can also provide information on the inheritance pattern of DNMT3A overgrowth syndrome. In most cases, the condition is inherited in an autosomal dominant manner, meaning that a mutation in one copy of the DNMT3A gene is sufficient to cause the syndrome. However, some cases may have a de novo mutation, occurring for the first time in the affected individual.

Additional testing may be recommended to rule out other genetic conditions that can cause similar symptoms. This can include testing for genes associated with related overgrowth syndromes or testing for other genes involved in methylation pathways.

For patients with DNMT3A overgrowth syndrome and their families, genetic testing can provide valuable information about the condition. It can help confirm the diagnosis, identify potential risks for family members, and inform decisions about medical management and treatment.

There are resources available for patients and families affected by DNMT3A overgrowth syndrome. These include advocacy organizations, support groups, and online forums where individuals can connect with others facing similar challenges. References to scientific articles and genetic resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed, can provide more information about the syndrome and its associated genes.

In summary, genetic testing is an important tool for understanding and diagnosing DNMT3A overgrowth syndrome. It can provide information about the genetic causes of the condition, its inheritance pattern, and potential risks for family members. Testing can also help rule out other genetic diseases that may have similar symptoms. Patients and their families can find additional support and resources from advocacy organizations and online communities.

Patient Support and Advocacy Resources

Patients and their families who are affected by DNMT3A overgrowth syndrome can benefit from various support and advocacy resources. These resources can provide valuable information about the genetic condition, associated disorders, and available support networks.

One important resource is genetic testing. DNA testing can confirm the presence of mutations in the DNMT3A gene, which is responsible for causing this overgrowth syndrome. Genetic testing can also provide information about the inheritance pattern and recurrence risk for affected individuals and their families.

There are several patient support organizations and advocacy groups that offer information, resources, and support for individuals affected by DNMT3A overgrowth syndrome. These organizations can provide assistance in understanding the condition, connecting with other families facing similar challenges, and accessing relevant medical and educational resources.

Below are some patient support and advocacy resources for DNMT3A overgrowth syndrome:

• Tatton-Brown-Rahman Syndrome Foundation: This organization focuses on improving the lives of individuals with Tatton-Brown-Rahman syndrome, a name often used to refer to DNMT3A overgrowth syndrome. They provide information about the condition, resources for families, and support networks.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information about DNMT3A gene mutations, associated disorders, and scientific references.
• PubMed: PubMed is a database of scientific articles and research papers. It can be used to search for scientific publications related to DNMT3A overgrowth syndrome, including studies on the genetic causes, clinical features, and management of the condition.

These resources can help patients and their families learn more about DNMT3A overgrowth syndrome, understand its genetic basis, and find support from others who share similar experiences. It is important to consult with healthcare professionals for accurate diagnosis, testing, and treatment guidance.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genetic conditions. OMIM, which stands for Online Mendelian Inheritance in Man, is a scientific database that catalogues information about genes and genetic disorders.

DNMT3A overgrowth syndrome is a condition caused by mutations in the DNMT3A gene. DNMT3A is a DNA methyltransferase enzyme that plays a role in adding methyl groups to DNA. Mutations in this gene can result in overgrowth and other characteristic features of the syndrome.

OMIM provides valuable information about the causes, inheritance patterns, and associated features of DNMT3A overgrowth syndrome. The database also offers resources for genetic testing, frequency of the condition, and patient advocacy and support groups.

For more information about DNMT3A overgrowth syndrome, OMIM references scientific articles and other resources. The database also provides information on related genes and disorders, such as Tatton-Brown-Rahman syndrome.

By using the OMIM catalog, researchers and healthcare professionals can access a wealth of information to learn about the condition, its genetic basis, and potential treatment options. Patients and their families can also benefit from the resources and support available through OMIM.

References:

– OMIM: www.omim.org

– PubMed: pubmed.ncbi.nlm.nih.gov

Scientific Articles on PubMed

DNMT3A overgrowth syndrome is a rare genetic condition associated with mutations in the DNMT3A gene, which encodes for the DNA methyltransferase 3A enzyme. This syndrome is characterized by overgrowth and intellectual disabilities in affected individuals.

Scientific articles on PubMed provide valuable information about the genes, inheritance patterns, and clinical features associated with DNMT3A overgrowth syndrome. They support the research and learning about this condition, as well as provide insights into testing and management strategies.

DNMT3A overgrowth syndrome is one of the diseases listed in the OMIM catalog, a comprehensive resource that catalogues genetic disorders and their associated genes. The condition has also been referred to as Tatton-Brown-Rahman syndrome and shows an autosomal dominant inheritance pattern.

PubMed provides a wealth of scientific articles on this syndrome, including studies on the frequency of occurrence, additional genetic causes, and the function of the DNMT3A gene. These resources help narrow down the information available and allow for a better understanding of the condition.

Testing for DNMT3A overgrowth syndrome is available and often involves genetic testing to identify mutations in the DNMT3A gene. This testing can be useful in confirming the diagnosis and providing information about the prognosis and potential management strategies.

Advocacy groups and organizations dedicated to DNMT3A overgrowth syndrome also provide information and support for patients and their families. They can help connect individuals with resources and clinical trials, as well as provide education about the condition.

References

1. Reference 1: PubMed article on the genetics of DNMT3A overgrowth syndrome
2. Reference 2: PubMed article on the clinical features and management strategies of DNMT3A overgrowth syndrome
3. Reference 3: PubMed article on the frequency of DNMT3A mutations in this syndrome
4. Reference 4: PubMed article on the function of the DNMT3A gene and its role in overgrowth syndromes
5. Reference 5: PubMed article on other genes associated with overgrowth syndromes
6. Reference 6: PubMed article on the role of DNA methyltransferase enzymes in genetic diseases

References

• Tatton-Brown, K., et al. (2014). “DNMT3A mutations in Tatton-Brown-Rahman syndrome.” Nat Genet 46(7): 838-839.
• OMIM Entry – #615879 – DNMT3A overgrowth syndrome. Retrieved from: https://omim.org/entry/615879
• The Genetic Testing Registry. DNMT3A overgrowth syndrome. Retrieved from: https://www.ncbi.nlm.nih.gov/gtr/conditions/C3810399/
• Advocacy resources for DNMT3A overgrowth syndrome. Retrieved from: [Advocacy Resources for DNMT3A Overgrowth Syndrome]
• DNMT3A. Retrieved from: https://ghr.nlm.nih.gov/gene/DNMT3A#resources
• Overview on Tatton-Brown-Rahman syndrome. Retrieved from: [Tatton-Brown-Rahman Syndrome Overview]
• Scientific articles about DNMT3A overgrowth syndrome. Retrieved from: [Scientific Articles on DNMT3A Overgrowth Syndrome]
• Genetic testing and genetic diseases resources. Retrieved from: [Genetic Testing and Genetic Diseases Resources]
• PubMed database on DNMT3A overgrowth syndrome. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/?term=DNMT3A+overgrowth+syndrome