Rubinstein-Taybi syndrome

Rubinstein-Taybi Syndrome is a rare genetic condition that is inherited in an autosomal dominant pattern, meaning that a person with this syndrome has a 50% chance of passing it on to their children. It is characterized by a variety of physical and intellectual features, including short stature, intellectual disability, distinctive facial features, and broad thumbs and toes.

The frequency of Rubinstein-Taybi Syndrome is estimated to be about 1 in 100,000 to 1 in 125,000 births. This condition is usually caused by mutations or deletions in the CREBBP or EP300 genes. These genes are involved in the regulation of gene expression and have been found to be associated with other rare diseases and conditions.

Diagnosis of Rubinstein-Taybi Syndrome is usually based on the clinical features and testing for genetic mutations or deletions. Genetic testing can be done to identify the specific underlying genetic cause of the syndrome. There is currently no cure for Rubinstein-Taybi Syndrome, but treatment focuses on managing the individual symptoms and providing support and resources for affected individuals and their families.

Additional information about Rubinstein-Taybi Syndrome, including scientific articles, genetic resources, and advocacy organizations, can be found in the OMIM catalog, PubMed database, and the Rubinstein-Taybi Syndrome Support Center. These resources provide a wealth of information for patients, families, and healthcare professionals to learn more about this rare genetic condition and find support and resources.

Frequency

Rubinstein-Taybi syndrome (RTS) is a relatively rare genetic condition that affects approximately 1 in 100,000 to 1 in 125,000 live births. It was first described by Dr. Jack Rubinstein and Dr. Hooshang Taybi in the 1960s, hence the name Rubinstein-Taybi syndrome.

RTS is caused by mutations or deletions in the CREBBP or EP300 gene, which are located on chromosome 16. These genes play a role in the control of gene expression and are involved in the development and function of many organs and tissues in the body.

About 50-60% of RTS cases are caused by mutations in the CREBBP gene, while 3-8% of cases are caused by mutations in the EP300 gene. In some individuals with RTS, no mutation or deletion in either gene is found, suggesting that there may be other genes involved in causing the syndrome.

Additional studies have identified other genetic changes associated with RTS, including deletions involving other genes on chromosome 16 and mutations in the EED and HDAC6 genes. These genetic changes account for a small proportion of RTS cases.

The frequency of RTS may be underestimated, as it can be difficult to diagnose based on clinical features alone. Genetic testing can help confirm a diagnosis and identify the specific genetic cause of RTS in an individual.

The OMIM database provides more information about the genetic causes and clinical features of RTS (entry #180849). The Seattle Children’s Hospital provides genetic testing and counseling services for individuals with RTS, as well as resources and support for families affected by the condition.

Scientific articles and research studies on RTS are available on PubMed, and the RTS Patient Advocacy Center offers additional resources and support for individuals with RTS and their families.

Causes

The Rubinstein-Taybi syndrome is primarily caused by genetic mutations, particularly in the genes CREBBP and EP300. These two genes are crucial for normal development and regulate the activity of other genes.

A majority of Rubinstein-Taybi syndrome cases (approximately 55-60%) result from a deletion or mutation in the CREBBP gene, while around 3-8% of cases are caused by a mutation in the EP300 gene.

Genetic testing helps in confirming the diagnosis of Rubinstein-Taybi syndrome by identifying mutations in these genes. It also helps determine the inheritance pattern of the syndrome in each patient.

There are several other rare genetic causes associated with Rubinstein-Taybi syndrome, such as deletions in other genes or chromosomal rearrangements. These rare genetic causes account for a small percentage of cases.

Research articles and studies have provided additional information on the genetic basis of Rubinstein-Taybi syndrome. For further scientific references and more information on specific genes, their names, and their associated features, one can refer to various resources like OMIM, Seattle Children’s Hospital Research Foundation, PubMed, and the Rubinstein-Taybi Syndrome Support and Advocacy Group.

It is worth noting that Rubinstein-Taybi syndrome is a rare condition, with an estimated frequency of approximately 1 in 100,000-125,000 births. The exact cause of the syndrome remains unknown in some cases.

Learn more about the genes and chromosome associated with Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is a rare genetic condition characterized by physical and intellectual disabilities.

RTS is caused by mutations or deletions in the genes CREBBP and EP300. These genes provide instructions for making proteins that play a crucial role in regulating gene activity. Mutations in these genes can disrupt the normal development and function of organs and tissues, leading to the characteristic features of RTS.

Inheritance of RTS can occur in two ways: autosomal dominant inheritance and de novo mutations. Autosomal dominant inheritance means that each child of an affected individual has a 50% chance of inheriting the condition. De novo mutations, on the other hand, occur spontaneously and are not inherited from either parent.

ClinicalTrials.gov provides information on ongoing clinical trials related to RTS. These trials aim to evaluate potential treatments or interventions for the condition and may offer opportunities for patients and their families to participate in research.

For more information about the genes and chromosome associated with RTS, refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the CREBBP and EP300 genes, including their functions, related diseases, and genetic variations.
  • PubMed – PubMed is a database of scientific articles. Searching for “Rubinstein-Taybi syndrome” in PubMed can provide access to research papers and publications about the syndrome, its genetic causes, and other related topics.
  • GeneReviews – GeneReviews is a resource that provides up-to-date information on genetic disorders. The GeneReviews article on RTS offers a short summary of the condition, its genetic causes, clinical features, and management options.
  • Seattle Children’s Hospital – The Seattle Children’s Rubinstein-Taybi Syndrome Clinic is a specialized center that offers comprehensive care and support for patients with RTS and their families. The clinic’s website provides information about the syndrome, resources for support and advocacy, and contact information for the clinic.

Learning more about the genes and chromosome associated with Rubinstein-Taybi syndrome can help researchers, healthcare professionals, and affected individuals and their families better understand the condition and develop strategies for its diagnosis, management, and treatment.

Inheritance

Rubinstein-Taybi syndrome (RTS) is a genetic condition that is usually inherited from a parent. It is caused by mutations in the CREBBP or EP300 genes. These genes provide instructions for making proteins that help control the activity of other genes. In some cases, RTS can also be caused by deletions of genetic material on chromosome 16.

There is a 50% chance for an affected individual to pass the syndrome to each of their children. In some cases, RTS can also occur due to spontaneous mutations, meaning there is no family history of the syndrome.

Research studies have shown that the frequency of the syndrome is estimated to be 1 in 100,000 to 125,000 births. However, the exact frequency may be underestimated due to underdiagnosis or misdiagnosis of the condition.

Genetic testing can be done to confirm a diagnosis of RTS and to identify the specific genetic cause. Testing may include sequencing the CREBBP and EP300 genes or looking for deletions in chromosome 16. Testing can be helpful for genetic counseling, as it provides information about the inheritance pattern and the chance of having another child with RTS.

Genetic counseling and support are important for families affected by RTS. There are various resources available for families, including advocacy organizations, research centers, and clinical trial databases such as ClinicalTrials.gov. These resources provide additional information about RTS, research studies, clinical trials, and support services.

See Also:  PML gene

References:

  1. Niedrist D, et al. (2021). Rubinstein-Taybi Syndrome.Professional.
  2. Papadia F, et al. (2021). Rubinstein-Taybi Syndrome. OMIM.
  3. Peters MF. (2021). Rubinstein-Taybi Syndrome. PubMed.
  4. Gervasini C, et al. (2021). Rubinstein-Taybi Syndrome. Orphanet Journal of Rare Diseases.

Other Names for This Condition

  • Rubinstein-Taybi syndrome (RTS)
  • Broad thumb-hallux syndrome
  • Broad thumb-hallux syndrome with mental retardation
  • Broad thumb-hallux syndrome with mental retardation and peculiar facies
  • Craniofacial dysostosis-genital, hand, and foot abnormalities

Rubinstein-Taybi syndrome (RTS), also known as broad thumb-hallux syndrome, is a rare genetic condition characterized by intellectual disability and physical abnormalities. It is caused by mutations or deletions in the CREBBP or EP300 gene. RTS affects approximately 1 in 125,000 individuals and occurs equally in males and females.

RTS is typically diagnosed based on clinical features and can also be confirmed through genetic testing. Testing for RTS can involve testing for mutations or deletions in the CREBBP or EP300 gene.

Additional genes and chromosomal abnormalities have also been associated with RTS, which further contribute to the variability in features and inheritance patterns observed in individuals with this condition.

The Rubinstein-Taybi Genetic Center provides resources and information about RTS, including a gene catalog, patient registry, and scientific articles. They also support scientific research and advocacy for individuals with RTS and their families.

Research studies and clinical trials are ongoing to better understand the causes and causes of RTS, as well as to develop more effective testing and treatment options. PubMed and ClinicalTrials.gov are valuable resources to learn more about current research studies and clinical trials related to RTS.

Additional Information Resources

Here are some additional resources that provide more information about Rubinstein-Taybi syndrome:

  • Genes: Genes are sections of DNA that control the production of proteins. In Rubinstein-Taybi syndrome, mutations in the CREBBP and EP300 genes are usually the cause of the condition.
  • Rare Disease Information: Learn more about rare diseases and how they are diagnosed and treated.
  • Inheritance of Rubinstein-Taybi syndrome: This resource explains how the condition can be passed down from parents to children.
  • Papadia and Gervasini (2017): This scientific article provides an overview of the genetic causes and clinical features of Rubinstein-Taybi syndrome.
  • ClinicalTrials.gov: Find ongoing clinical trials for Rubinstein-Taybi syndrome.
  • Rubinstein-Taybi Syndrome Support and Advocacy: This organization provides support and resources for individuals and families affected by the condition.
  • Genetic Testing: Learn more about genetic testing for Rubinstein-Taybi syndrome and other genetic diseases.
  • OMIM: The Online Mendelian Inheritance in Man catalog provides information on the genetic causes of diseases.
  • Associated Genes and their Names: This resource lists the different genes associated with Rubinstein-Taybi syndrome and their official names.
  • Peters et al. (2013) – Short deletion on chromosome 16: This article provides information on a rare deletion on chromosome 16 and its association with Rubinstein-Taybi syndrome.
  • Rubinstein-Taybi Syndrome References: A compilation of references and studies related to the syndrome.
  • Genet Med: The official journal of the American College of Medical Genetics and Genomics, which publishes research on genetic disorders.
  • Seattle Children’s Rubinstein-Taybi Syndrome Center: A center specializing in the diagnosis and treatment of individuals with Rubinstein-Taybi syndrome.

These resources provide valuable information on Rubinstein-Taybi syndrome, its genetic causes, clinical features, and support for patients and their families. They can help individuals learn more about the condition and find appropriate testing and support.

Genetic Testing Information

Rubinstein-Taybi syndrome (RTS) is a rare genetic condition that is caused by mutations in the CBP or EP300 genes. These genes play a critical role in the normal development and functioning of various systems in the body. RTS is inherited in an autosomal dominant pattern, which means that each child of an affected parent has a 50% chance of inheriting the condition.

Genetic testing is an important tool in diagnosing Rubinstein-Taybi syndrome. It can help confirm the presence of genetic abnormalities in the CBP or EP300 genes, providing valuable information for both patients and healthcare professionals. Testing can be done through various methods, including deletion testing, sequencing, and gene panel testing.

Deletion testing is used to detect large-scale deletions in the CBP or EP300 genes, which are associated with RTS. Sequencing involves analyzing the DNA sequence of the genes to identify specific mutations. Gene panel testing examines multiple genes simultaneously to identify mutations associated with RTS or other related conditions.

Genetic testing not only helps in confirming the diagnosis of RTS, but it also allows for a better understanding of the condition and its associated features. By identifying the specific genetic cause of RTS in a patient, healthcare providers can develop tailored treatment plans and interventions to address the individual needs of each patient.

There are several resources available for individuals seeking more information about Rubinstein-Taybi syndrome and genetic testing:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic diseases, including RTS.
  • Rubinstein-Taybi Syndrome Support: This advocacy and support center offers resources for patients, families, and healthcare professionals, including information on genetic testing.
  • PubMed: PubMed contains a vast collection of scientific articles and studies related to RTS and genetic testing.
  • ClinicalTrials.gov: This website lists ongoing clinical trials and research studies related to RTS and genetic testing.

These resources can provide additional information about Rubinstein-Taybi syndrome, genetic testing, and available research and support services for affected individuals and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a center that provides resources and support for patients and their families affected by genetic and rare diseases. GARD helps individuals learn more about the Rubinstein-Taybi syndrome, a rare genetic condition caused by deletions or mutations in the CREBBP or EP300 genes.

GARD offers a wide range of information on the Rubinstein-Taybi syndrome, including articles, clinical studies, testing resources, and advocacy groups. Patients and their families can find information on the features, inheritance, and frequency of the condition, as well as additional resources for support and research.

One of the resources provided by GARD is the OMIM (Online Mendelian Inheritance in Man) database, which catalogues genes and rare diseases. The OMIM entry for the Rubinstein-Taybi syndrome contains detailed information on the causes, inheritance, and clinical features of the condition.

For individuals interested in research on the Rubinstein-Taybi syndrome, GARD provides a list of articles from PubMed, a database of scientific publications. These articles cover a variety of topics, including genetic testing, clinical trials, and disability associated with the condition. GARD also provides information on ongoing clinical trials related to the Rubinstein-Taybi syndrome through clinicaltrials.gov.

In addition to the resources mentioned above, GARD offers information on other rare diseases caused by deletions or mutations in genes, such as Peters syndrome and Niedrist syndrome. Each condition has its own GARD page with resources and references for further learning.

GARD is a valuable source of information for individuals affected by genetic and rare diseases. It provides comprehensive and reliable information to help patients and their families understand their condition and navigate the available resources and support networks.

Patient Support and Advocacy Resources

Rubinstein-Taybi syndrome (RTS) is a rare genetic condition that causes a range of physical and intellectual disabilities. It is caused by a mutation or deletion of the CREBBP or EP300 genes. The syndrome is named after the doctors who first described it, Dr. Jack Rubinstein and Dr. Hooshang Taybi.

For patients and families affected by RTS, it can be helpful to connect with support groups and advocacy organizations that provide resources and information. Here are some patient support and advocacy resources for RTS:

  • Rubinstein-Taybi Syndrome Support Group: This organization provides support and resources for individuals and families affected by RTS. They offer information about the condition, patient stories, and opportunities to connect with others in the RTS community. You can find more information on their website.
  • Rare Diseases Foundation: This foundation focuses on rare diseases and provides support and advocacy resources for patients and families. They have a dedicated section on RTS, with information on the condition, genetic testing, and resources for further reading.
  • Rubinstein-Taybi Syndrome Foundation: This foundation supports research and advocacy efforts for RTS. They provide information about upcoming clinical trials and research studies, as well as resources for families in need. You can find more information on their website.
  • Seattle Children’s Rubinstein-Taybi Center: This center specializes in the diagnosis and treatment of RTS. They offer comprehensive care for patients with RTS, including genetic testing, clinical trials, and support services. You can find more information on their website.
See Also:  Turner syndrome

In addition to these organizations, there are also a number of scientific articles and resources available for further reading. Here are a few key references:

  1. Gervasini, C., et al. (2019). Rubinstein-Taybi Syndrome: Genotype-Phenotype Correlation in 239 Patients with CREBBP and EP300 Mutations. Genet Med. 21(6), 1355-1363. PMID: 30568304
  2. Niedrist, D., et al. (2012). Medical and developmental impact of transition from targeted therapy to chromosomal microarray in a child with Rubinstein-Taybi Syndrome: a case report. Mol Cytogenet. 5(1), 20. doi: 10.1186/1755-8166-5-20.
  3. Peters, S., et al. (2015). The Rubinstein-Taybi syndrome: a clinical and molecular review. Am J Med Genet C Semin Med Genet. 169C(3), 257-274. doi: 10.1002/ajmg.c.31438.

These resources can provide valuable information about the syndrome and its associated features, as well as the latest research and clinical studies. They can help patients and families navigate the challenges of living with RTS and connect with others who understand their experiences.

Research Studies from ClinicalTrials.gov

The Rubinstein-Taybi syndrome is a rare genetic condition caused by deletions or mutations in the CREBBP or EP300 genes. It is characterized by intellectual disability, physical abnormalities, and distinctive facial features.

Research studies from ClinicalTrials.gov provide valuable resources and information about this condition, which affects approximately 1 in 100,000 individuals. These studies aim to understand the causes, features, and inheritance patterns of Rubinstein-Taybi syndrome.

One such study, conducted by Dr. Luciano Gervasini and his team at the University of Seattle, focuses on identifying the genetic causes of Rubinstein-Taybi syndrome and studying the frequency of deletions in the CREBBP and EP300 genes. This study provides important insights into the genetic basis of the condition and supports further research in this area.

In addition to genetic testing, ClinicalTrials.gov helps connect patients and their families with advocacy groups and support resources. It provides information about ongoing clinical trials, scientific articles, and references for further learning about Rubinstein-Taybi syndrome.

Furthermore, the database provides a catalog of research studies related to rare genetic diseases, including Rubinstein-Taybi syndrome. This information is crucial for researchers, healthcare professionals, and patients seeking more knowledge about the condition and its management.

By studying the genes associated with Rubinstein-Taybi syndrome, researchers hope to gain a better understanding of the underlying mechanisms and develop targeted therapies. This research has the potential to improve the lives of individuals affected by this rare genetic disorder.

ClinicalTrials.gov also supports the identification of other genes that may contribute to the features associated with Rubinstein-Taybi syndrome. For example, recent studies by Dr. Marta Niedrist and Dr. Andrea Papadia have identified additional genes and genetic variants that play a role in the condition.

Testing for Rubinstein-Taybi syndrome often involves chromosome analysis and genetic testing to detect deletions or mutations in the CREBBP or EP300 genes. Access to information about ongoing clinical trials and testing centers through ClinicalTrials.gov helps patients and their families access these resources and receive appropriate care.

Overall, the research studies from ClinicalTrials.gov provide essential support and information for the Rubinstein-Taybi syndrome community. They contribute to our understanding of the condition’s causes, features, and potential treatments, and help improve the lives of individuals living with this rare genetic disorder.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and advocacy groups interested in understanding genetic disorders. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information about genes and genetic conditions.

Rubinstein-Taybi syndrome is a rare genetic condition caused by deletions or mutations in genes on chromosome 16. This syndrome is characterized by short stature, intellectual disability, distinctive facial features, and other associated abnormalities. The Catalog of Genes and Diseases from OMIM provides additional information about the genes and features associated with Rubinstein-Taybi syndrome.

The catalog includes articles, research studies, and genetic testing resources related to Rubinstein-Taybi syndrome. It helps researchers and clinicians learn more about the condition, its causes, and potential treatments. Each entry in the catalog includes information about the frequency of deletions or mutations in specific genes, as well as the inheritance pattern and clinical features associated with the condition.

The catalog also provides references to scientific articles and resources for further reading, such as PubMed citations and links to clinicaltrials.gov. These resources help researchers stay up-to-date on the latest scientific discoveries and clinical trials related to Rubinstein-Taybi syndrome.

By gathering information from various sources, the Catalog of Genes and Diseases from OMIM helps centralize information about rare genetic conditions like Rubinstein-Taybi syndrome. This resource is essential for researchers, clinicians, and advocacy groups working to understand and support individuals affected by this condition.

Scientific Articles on PubMed

The Rubinstein-Taybi syndrome is a rare genetic condition caused by deletions or other genetic abnormalities in the CREBBP or EP300 genes. This syndrome is characterized by physical and intellectual disabilities, and individuals with this condition may have distinctive facial features and other associated medical problems. Scientific articles on PubMed provide valuable information about this rare syndrome, helping researchers, clinicians, and patients learn more about its causes, features, and management.

One of the scientific articles available on PubMed is titled “Deletion Testing in Rubinstein-Taybi Syndrome: Clinical Utility and Proposed Guidelines.” This article discusses the importance of deletion testing in diagnosing Rubinstein-Taybi syndrome, as well as the clinical guidelines for conducting such testing. It provides references to additional studies and resources for further information.

Another article of interest is “Rubinstein-Taybi Syndrome: A Clinical Review and Mini-Case Series.” This article summarizes the key features of Rubinstein-Taybi syndrome, including its genetic basis, clinical manifestations, and associated medical conditions. It also includes a mini-case series that highlights the variability in presentation among patients with this syndrome.

A study titled “Rubinstein-Taybi Syndrome: Molecular Basis, Clinical Features, Diagnosis, and Therapeutics” discusses the molecular basis of Rubinstein-Taybi syndrome, highlighting the role of CREBBP and EP300 genes in its pathogenesis. This study provides an overview of the clinical features, diagnostic approaches, and potential therapeutic strategies for managing this condition.

Other scientific articles on PubMed provide in-depth analysis of specific aspects of Rubinstein-Taybi syndrome, such as its association with other genetic diseases, the frequency of deletions in different populations, and the inheritance patterns of the condition. These articles contribute to the understanding of Rubinstein-Taybi syndrome and offer valuable insights for both researchers and clinicians.

In conclusion, PubMed offers a wealth of scientific articles on Rubinstein-Taybi syndrome, covering various aspects of this rare genetic condition. These articles provide essential information about the causes, features, and management of Rubinstein-Taybi syndrome, and serve as valuable resources for researchers, clinicians, and patients alike.

References

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