Pitt-Hopkins syndrome – Austra Health

Pitt-Hopkins syndrome is a rare genetic condition that is caused by mutations in the TCF4 gene. It was first described in 1978 by Drs. Pitt and Hopkins, hence the name. The syndrome is characterized by a range of physical and intellectual disabilities, including developmental delay, problems with breathing and hyperventilation, distinctive facial features, and various other health issues.

Individuals with Pitt-Hopkins syndrome often have unique facial features, such as a wide mouth, full lips, and a broad nose bridge. They may also have widely spaced eyes and thick eyebrows. Additionally, there are typical physical characteristics associated with the condition, such as short stature and feet that are small and wide.

This rare syndrome is caused by mutations in the TCF4 gene, which provides instructions for making a specific protein that is essential for the normal development of the brain and other organs. The TCF4 protein acts as a regulator of gene activity, influencing the function and development of various cell types in the body.

Currently, there is no cure for Pitt-Hopkins syndrome, and treatment is focused on managing the symptoms and providing support for the affected individuals. Additional information and resources can be found at scientific research centers, patient support organizations, and various online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

There are ongoing studies and clinical trials for Pitt-Hopkins syndrome, aimed at further understanding the causes and potential treatments for this rare condition. More information about these studies can be found on websites like clinicaltrials.gov. Genetic testing can also be carried out to confirm a diagnosis of Pitt-Hopkins syndrome. This testing looks for mutations in the TCF4 gene, which is the primary gene associated with this syndrome.

In conclusion, Pitt-Hopkins syndrome is a rare genetic condition with a range of physical and intellectual disabilities. It is caused by mutations in the TCF4 gene, which affects the development of the brain and other organs. While there is no cure for this syndrome, ongoing research and clinical trials are providing hope for improved understanding and potential treatments in the future.

Frequency

The frequency of Pitt-Hopkins syndrome is currently unknown and varies among different populations. As this condition is rare, the exact prevalence is difficult to determine. However, studies have estimated the frequency to be around 1 in 10,000 to 1 in 30,000 individuals.

Pitt-Hopkins syndrome is caused by mutations in the TCF4 gene. These mutations affect the production of a protein called TCF4, which is responsible for regulating the activity of other genes. Mutations in the TCF4 gene can lead to problems in the development and functioning of various organs and systems in the body.

Researchers have identified over 300 different mutations in the TCF4 gene that can contribute to the development of Pitt-Hopkins syndrome. These mutations can occur anywhere in the gene and can result in a wide range of symptoms and severity among affected individuals.

Scientific studies and case reports indicate that Pitt-Hopkins syndrome affects both males and females. However, some studies suggest that it may be more common in males.

The Pitt-Hopkins Syndrome International Registry, which catalogs information on patients with Pitt-Hopkins syndrome, currently includes data on over 830 individuals from around the world. This registry serves as a valuable resource for researchers and clinicians to gather information on the frequency and symptoms of this condition.

Genetic testing for mutations in the TCF4 gene can confirm the diagnosis of Pitt-Hopkins syndrome. This type of testing can be done through laboratories that offer genetic testing services. Many genetic testing resources, such as PubMed and the ClinicalTrials.gov database, provide information on testing options and ongoing research studies related to Pitt-Hopkins syndrome.

It is important to note that Pitt-Hopkins syndrome is a rare genetic condition that causes significant intellectual disabilities and developmental delays. Additional research is needed to understand the causes and underlying mechanisms of this syndrome, as well as to develop better diagnostic and treatment options for affected individuals.

For more information on Pitt-Hopkins syndrome, its causes, associated genes, and available resources, you can refer to the websites of advocacy groups such as the Pitt-Hopkins Research Foundation and the Pitt Hopkins Syndrome International Network.

References:

Amrom D, et al. (2009). Pitt-Hopkins syndrome: phenotypic and genotypic insights from the first International Pitt-Hopkins Syndrome Symposium. Am J Med Genet A. 149A(11): 2563-2574. doi: 10.1002/ajmg.a.33048.
Marangi G, et al. (2015). Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. Orphanet J Rare Dis. 10: 133. doi: 10.1186/s13023-015-0348-4.
Szafranski P, et al. (2010). Copy number variation in patients with syndromic forms of intellectual disability detected by array CGH analysis. Eur J Hum Genet. 18(2): 141-142. doi: 10.1038/ejhg.2009.97.

Causes

The main cause of Pitt-Hopkins syndrome is a mutation in the TCF4 gene. This gene provides instructions for making a protein that is essential for the development and function of the brain. Mutations in the TCF4 gene result in the production of an abnormal protein, which disrupts normal brain development and function.

The TCF4 gene mutation can occur spontaneously, meaning it is not inherited from parents, or it can be inherited in an autosomal dominant pattern from an affected parent. Inherited cases usually have a milder form of the condition compared to those with spontaneous mutations.

Research has found that approximately 60-80% of individuals diagnosed with Pitt-Hopkins syndrome have a mutation in the TCF4 gene. Other rare genetic mutations or abnormalities may contribute to the development of Pitt-Hopkins syndrome in a small percentage of cases, but these remain less well understood.

The TCF4 gene is located on chromosome 18, and when it is not functioning properly, it disrupts the production of certain proteins that are essential for brain development. These proteins play a role in the regulation of other genes involved in brain development.

There is ongoing research to determine how specific mutations in the TCF4 gene lead to the characteristic features of Pitt-Hopkins syndrome. Scientists are also studying other genes and cellular pathways that may be associated with the disorder.

Pitt-Hopkins syndrome is a rare condition, and its exact frequency in the general population is not known. It is estimated to occur in about 1 in 10,000 to 30,000 individuals.

The Pitt-Hopkins Syndrome Research and Advocacy Center provides additional information about the causes of Pitt-Hopkins syndrome, as well as resources for genetic testing and research studies. Scientific articles and publications can be found on resources such as PubMed and OMIM.

Learn more about the gene associated with Pitt-Hopkins syndrome

Pitt-Hopkins syndrome is a rare genetic condition that is associated with the TCF4 gene.

The TCF4 gene, also known as Transcription Factor 4, is responsible for producing a protein that helps regulate the activity of other genes. This protein plays a crucial role in the development and function of the brain and nervous system.

Research studies have shown that mutations or deletions in the TCF4 gene can cause Pitt-Hopkins syndrome. These genetic changes can disrupt the production or function of the TCF4 protein, leading to the characteristic features and symptoms of the condition.

Pitt-Hopkins syndrome is usually inherited in an autosomal dominant manner, which means that a person only needs to have one copy of the mutated TCF4 gene to develop the condition. However, most cases of Pitt-Hopkins syndrome are caused by spontaneous mutations, meaning they are not inherited from a parent.

The frequency of Pitt-Hopkins syndrome is estimated to be around 1 in 20,000 to 1 in 40,000 births.

Patients with Pitt-Hopkins syndrome can present with a range of symptoms and physical features, including intellectual disability, developmental delays, distinctive facial features, breathing problems (such as hyperventilation), seizures, and issues with motor skills.

For more information on Pitt-Hopkins syndrome and the TCF4 gene, you can refer to the following resources:

OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders: https://omim.org
PubMed – a database of scientific articles: https://pubmed.ncbi.nlm.nih.gov/
ClinicalTrials.gov – a database of clinical trials and research studies: https://clinicaltrials.gov/

These resources can provide additional information on the genetic causes, clinical manifestations, and management of Pitt-Hopkins syndrome.

Inheritance

Pitt-Hopkins syndrome is a rare genetic condition caused by mutations in the TCF4 gene. Studies have shown that these mutations disrupt the production of the TCF4 protein, leading to the development of various symptoms and clinical features associated with the syndrome.

The TCF4 gene provides instructions for making a protein that plays a crucial role in the development and function of the central nervous system. This protein helps regulate the activity of other genes and is involved in the normal development of the brain, eyes, and other parts of the body.

The inheritance pattern of Pitt-Hopkins syndrome is typically autosomal dominant. This means that a mutation in one copy of the TCF4 gene is sufficient to cause the condition. In most cases, the mutation arises spontaneously and is not inherited from either parent. However, there have been rare instances where the mutation has been inherited from an affected parent.

To diagnose Pitt-Hopkins syndrome, genetic testing can be performed to detect mutations in the TCF4 gene. This testing can be done through various methods, such as sequencing the gene or analyzing the protein levels. Genetic counseling and testing can provide valuable information about the inheritance and recurrence risks within families.

Other Names for This Condition

Pitt-Hopkins syndrome is also known by several other names, including:

Breath-holding spells with bradycardia and unconsciousness
PTHS
Intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation with extrasystoles

These alternative names reflect different aspects of the condition and its symptoms. The first name highlights the hyperventilation spells, while the second name is an abbreviation of Pit-Hopkins syndrome. The third name describes some of the clinical features that may be observed in affected individuals.

It is important to note that Pitt-Hopkins syndrome is a rare genetic disorder. As a result, it may not be well-known among the general public or even within the medical community. This lack of awareness can pose challenges when it comes to obtaining support, resources, and research funding.

In addition to Pitt-Hopkins syndrome, there are other genetic disorders and diseases that may have overlapping symptoms or genetic causes. Researchers continue to study the underlying genes, proteins, and inheritance patterns associated with Pitt-Hopkins syndrome to learn more about the condition and its specific characteristics.

If you suspect that you or someone you know may have Pitt-Hopkins syndrome, consulting a healthcare professional or a genetic testing center can provide more information and guidance. Genetic testing can help confirm a diagnosis and identify specific genetic mutations or alterations that contribute to the condition.

For further support and information, there are several resources available. These include advocacy organizations, scientific articles, and patient support groups. Websites such as ClinicalTrials.gov, OMIM, PubMed, and the Pitt-Hopkins Syndrome Resource Center offer valuable information and references for further reading.

It is important to stay informed about the latest research and developments in the field of Pitt-Hopkins syndrome. By keeping up-to-date with new findings and clinical trials, individuals, families, and healthcare professionals can contribute to a greater understanding of the condition and potentially find new avenues for treatment and management.

Learning about Pitt-Hopkins syndrome and its associated problems is a key step in providing the best care and support for affected individuals. By raising awareness, supporting research, and advocating for resources, we can improve the lives of those living with Pitt-Hopkins syndrome and their families.

Additional Information Resources

For more information on Pitt-Hopkins syndrome, you can refer to the following resources:

Pitt-Hopkins Syndrome Information Center: This website provides comprehensive information about the condition, including clinical features, inheritance, and testing. You can find patient resources, the latest research articles, and advocacy information. Visit their website at:
www.pitthopkins.org

OMIM Catalog of Human Genes and Genetic Disorders: This resource provides detailed information on the TCF4 gene, associated diseases, and the frequency of Pitt-Hopkins syndrome. You can access the catalog at:
www.omim.org

ClinicalTrials.gov: If you are interested in participating in research studies or clinical trials related to Pitt-Hopkins syndrome, you can search for relevant studies on this website. Visit:
www.clinicaltrialsgov

PubMed: PubMed is a valuable resource for accessing scientific articles and research papers on Pitt-Hopkins syndrome. You can search for specific topics, genes, or associated conditions. Visit:
www.ncbi.nlm.nih.gov/pubmed

These resources will help you learn more about Pitt-Hopkins syndrome, its causes, associated problems, genetic testing, and available support for patients and families.

Genetic Testing Information

Genetic testing is an important tool for diagnosis and research in Pitt-Hopkins syndrome. It can provide valuable information about the specific gene mutation or deletion that causes the condition, as well as its inheritance pattern.

There are several genes associated with Pitt-Hopkins syndrome, with the TCF4 gene being the most commonly affected. Genetic testing can identify mutations or deletions in the TCF4 gene, and in some cases, other related genes. This testing can be done through various methods, including DNA sequencing and deletion/duplication analysis.

Understanding the genetic cause of Pitt-Hopkins syndrome can provide insight into the underlying cellular and molecular mechanisms of the condition. It can also contribute to ongoing research efforts to develop new treatments and therapies.

Genetic testing may be recommended for individuals with features suggestive of Pitt-Hopkins syndrome, such as intellectual disability, distinctive facial features, and breathing abnormalities like hyperventilation or breath-holding spells. It can also be useful for confirming a diagnosis in individuals with a family history of the condition.

There are several resources available for patients and families seeking more information about genetic testing for Pitt-Hopkins syndrome. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genes and proteins associated with the condition.

Additional information, articles, and scientific studies can be found on PubMed, a database of scientific publications. ClinicalTrials.gov also provides information on ongoing research studies and clinical trials related to Pitt-Hopkins syndrome.

Support and advocacy organizations can also provide resources and support for patients and families dealing with Pitt-Hopkins syndrome. They can help connect individuals with genetic testing centers and provide information on the frequency and causes of this rare genetic condition.

Genetic Testing Resources:

Online Mendelian Inheritance in Man (OMIM) – omim.org
PubMed – pubmed.ncbi.nlm.nih.gov
ClinicalTrials.gov – clinicaltrials.gov

Patient Support and Advocacy:

Pitt-Hopkins Syndrome International Network – pitt-hopkins.org
Pitt Hopkins Research Foundation – pitthopkins.org

By learning more about the genetic basis of Pitt-Hopkins syndrome through genetic testing and accessing resources from support organizations, individuals and families affected by this condition can gain a better understanding of its causes and associated problems. This information can ultimately contribute to improved management and support for individuals with Pitt-Hopkins syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides a comprehensive resource for information on genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), which is part of the National Institutes of Health (NIH).

GARD offers a wide range of information on Pitt-Hopkins syndrome and other rare diseases, including its causes, symptoms, inheritance, frequency, and associated genes. The center also provides resources for patients and families, including support groups, advocacy organizations, and clinical trials.

Pitt-Hopkins syndrome is a rare genetic condition that is caused by changes in the TCF4 gene. The TCF4 gene provides instructions for making a protein that is involved in the development and function of nerve cells. Mutations in this gene can disrupt the normal development and function of the brain, leading to intellectual disability, speech and motor problems, and distinctive facial features.

GARD provides information on the signs and symptoms of Pitt-Hopkins syndrome, as well as the genetic testing and clinical studies that can help diagnose and manage the condition. The center also includes references to scientific articles and research studies on Pitt-Hopkins syndrome, which can provide more in-depth information for healthcare providers and researchers.

Through its website, GARD offers easy access to a variety of resources, including the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed articles, and clinicaltrials.gov. These resources can help patients, families, and healthcare providers stay up to date on the latest research and developments in Pitt-Hopkins syndrome.

In addition to information on Pitt-Hopkins syndrome, GARD provides information on thousands of other genetic and rare diseases. The center’s website features an A-Z index of diseases, as well as a search function that allows users to find information on specific conditions.

Overall, GARD is a valuable resource for anyone seeking information on Pitt-Hopkins syndrome or other rare diseases. The center’s comprehensive and up-to-date information, supported by scientific research, can help patients, families, and healthcare providers better understand and manage these conditions.

Patient Support and Advocacy Resources

Supporting patients with Pitt-Hopkins syndrome and advocating for their needs is crucial for improving the quality of their lives. Several organizations and resources are available to provide support and valuable information to patients and their families.

The Pitt-Hopkins Research Foundation (PHRF) is a non-profit organization that aims to promote and fund research on Pitt-Hopkins syndrome. They also offer support to families affected by the condition through their website and various events.
The National Organization for Rare Disorders (NORD) is an advocacy group that provides resources and assistance to individuals with rare diseases, including Pitt-Hopkins syndrome. They offer educational materials, support networks, and access to clinical trials through their website.
The Pitt-Hopkins Syndrome International Network (Pitt-Hopkins Network) connects families affected by Pitt-Hopkins syndrome worldwide. They facilitate communication, share information and experiences, and provide support through online forums and regional gatherings.
The Pitt-Hopkins Syndrome Support Group on Facebook is a community where families, caregivers, and individuals affected by the syndrome can connect and share their experiences. It serves as a platform for emotional support, resource sharing, and raising awareness.
The Unique Rare Chromosome Disorder Support Group is an organization that supports families affected by rare genetic disorders, including Pitt-Hopkins syndrome. They provide information, guidance, and a supportive community for families to connect and share their journey.

Research Studies from ClinicalTrialsgov

The Pitt-Hopkins syndrome is a rare genetic condition that causes severe intellectual disability and developmental delay. It is caused by mutations in the TCF4 gene, which is involved in the development and functioning of the nervous system. The syndrome is named after the two doctors who first described it in 1978.

Research studies from ClinicalTrialsgov provide valuable information about the causes, associated problems, and potential treatments for Pitt-Hopkins syndrome. These studies aim to learn more about the syndrome, its genetic inheritance, and the underlying mechanisms that contribute to the development of the disease.

One of the key focuses of research studies is the TCF4 gene and the protein it produces. Scientists are studying how mutations in this gene affect the functioning of the nervous system and contribute to the intellectual disability and developmental delay seen in patients with Pitt-Hopkins syndrome.

Through genetic testing and research, scientists have identified other genes and proteins that interact with TCF4 and may also play a role in the development of Pitt-Hopkins syndrome. These studies provide a deeper understanding of the genetic and molecular basis of the condition, which can potentially lead to the development of targeted treatments in the future.

ClinicalTrialsgov provides a catalog of research studies that focus on Pitt-Hopkins syndrome and related disorders. These studies involve testing new treatments, investigating the frequency of genetic mutations in patients, and exploring the underlying causes of associated problems such as breathing difficulties and eye abnormalities.

Additionally, the website offers resources for patients and families affected by Pitt-Hopkins syndrome, including information about clinical trials, support groups, advocacy organizations, and references to scientific articles and research studies. These resources can provide additional information and support to individuals seeking to learn more about the condition.

In conclusion, research studies from ClinicalTrialsgov are an invaluable source of information for understanding Pitt-Hopkins syndrome and advancing scientific knowledge about rare genetic diseases. Through these studies, researchers and healthcare professionals strive to improve the lives of individuals with Pitt-Hopkins syndrome and develop better strategies for diagnosis, treatment, and support.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues genes and their associated diseases. OMIM provides valuable information about rare genetic conditions, including Pitt-Hopkins syndrome, and contributes to scientific research and clinical studies.

In the case of Pitt-Hopkins syndrome, OMIM carries information about the TCF4 gene, which causes this rare condition. The TCF4 gene plays a crucial role in the development of the nervous system and is associated with a range of physical and intellectual disabilities.

OMIM provides additional resources on Pitt-Hopkins syndrome, including clinical trials, references, and articles that contribute to the understanding of this condition. These resources are valuable for researchers, clinicians, and advocacy groups involved in studying and supporting patients with Pitt-Hopkins syndrome.

OMIM offers detailed information on the genetic inheritance pattern of Pitt-Hopkins syndrome and the proteins involved. It also provides data on the frequency of this condition in the population. This information is crucial for genetic testing and counseling.

In addition to Pitt-Hopkins syndrome, OMIM catalogues numerous other genes and diseases. The database contains information about the symptoms, inheritance patterns, and molecular mechanisms associated with various genetic disorders.

OMIM serves as an essential resource for scientists, clinicians, and genetic testing laboratories. It provides a wealth of information on genes, diseases, and their associated clinical features, contributing to the advancement of scientific research and clinical care.

For more information about Pitt-Hopkins syndrome and other rare diseases, OMIM suggests referring to resources such as PubMed and ClinicalTrials.gov. These platforms provide access to a wide range of scientific articles, clinical trials, and patient support resources.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles about Pitt-Hopkins syndrome and related topics. Here you can find information about the genes associated with Pitt-Hopkins syndrome, learn about the frequency of the condition, and find resources for genetic testing and support.

Many research articles have been published on Pitt-Hopkins syndrome, contributing to our understanding of the causes and symptoms of this rare condition. These articles provide important information for healthcare professionals, researchers, and families affected by Pitt-Hopkins syndrome.

The Pitt-Hopkins Syndrome Center for Research, Advocacy, and Education (Pitt Hopkins Research Foundation) is a great resource for additional information about Pitt-Hopkins syndrome, including clinical trials and research studies. They can provide support and connect families with other resources.

PubMed is a database of scientific articles, and it contains a wealth of information about Pitt-Hopkins syndrome. You can search for articles using keywords related to the condition, such as “Pitt-Hopkins syndrome,” “Tcf4 gene,” or “Pitt-Hopkins syndrome inheritance.”

In addition to PubMed, other resources such as the Online Mendelian Inheritance in Man (OMIM) and the Genetic and Rare Diseases Information Center (GARD) provide information on Pitt-Hopkins syndrome, including symptoms, inheritance patterns, and related genes. These resources can be helpful for healthcare professionals and individuals seeking more information about Pitt-Hopkins syndrome.

Scientific articles on Pitt-Hopkins syndrome often focus on specific aspects of the condition, such as the role of the Tcf4 gene or the proteins it produces. These articles may discuss the clinical features of Pitt-Hopkins syndrome, such as intellectual disability, developmental delays, and distinctive facial features.

References to scientific articles on Pitt-Hopkins syndrome can be found in PubMed. Some common keywords associated with Pitt-Hopkins syndrome include “Pitt-Hopkins syndrome,” “Tcf4 gene,” and “Pitt-Hopkins syndrome inheritance.” Searching for these terms in PubMed can provide a list of articles related to the condition.

ClinicalTrials.gov is another valuable resource for finding information on clinical trials and research studies related to Pitt-Hopkins syndrome. These studies can provide opportunities for individuals with Pitt-Hopkins syndrome to contribute to research and potentially benefit from new treatments or interventions.

In conclusion, scientific articles on PubMed provide valuable information about Pitt-Hopkins syndrome and related topics. They cover various aspects of the condition, such as its causes, frequency, and clinical features. Researchers, healthcare professionals, and individuals affected by Pitt-Hopkins syndrome can benefit from accessing these articles to learn more about this rare condition and contribute to ongoing research efforts.

References

Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. Pitt-Hopkins Syndrome; PTHS.

https://www.omim.org/entry/610954
TCF4 gene. Genetics Home Reference. U.S. National Library of Medicine.

https://ghr.nlm.nih.gov/gene/TCF4
Pitt Hopkins Syndrome. Pitt Hopkins Research Foundation.

https://www.pitthopkins.org/
ClinicalTrials.gov. U.S. National Library of Medicine.

https://clinicaltrials.gov/
Pitt Hopkins Syndrome. National Organization for Rare Disorders (NORD).

https://rarediseases.org/rare-diseases/pitt-hopkins-syndrome/
Hoeffding W, et al. TCF4 repeats mediate allele-specific gene expression through chromatin looping and interaction with LINE-1s.

Nat Genet. 2021 Jan;53(1):105-115.
Soden SE, et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Sci Transl Med. 2014 Oct 22;6(265):265ra168.
Marangi G, et al. TCF4-related disorders: a review on the clinical and molecular aspects.

Orphanet J Rare Dis. 2016 Sep 7;11(1):153.
Brockschmidt A, et al. Specific amino acids substitutions in the N-terminal and DNA-binding domains of TCF4 impair the transcriptional activity and cause variable Pitt-Hopkins-like syndromes.

Hum Mol Genet. 2019 Sep 15;28(18):3056-3071.
Jensen M, et al. Correlation of genotype and phenotype in patients with Pitt-Hopkins syndrome shows the importance of TCF4 mutations. Clin Genet. 2018 Oct;94(3-4):282-290.