The TCF4 gene, also known as transcription factor 4, is a pontual genet that is located on the long arm of chromosome 18 (18q). It plays a critical role in the development and function of various tissues and organs in the body. Mutations, changes, and deletions in the TCF4 gene have been associated with several conditions and diseases, including Pitt-Hopkins syndrome, Fuchs endothelial dystrophy, and severe articles on PubMed and OMIM databases list TCF4 as one of the genes related to these conditions.

TCF4 encodes for a transcription factor that is involved in the regulation of gene expression. It binds to specific nucleotides in the DNA and controls the activity of genes, influencing various cellular processes. Distal to TCF4, there are other genes that are part of the same genetic region and play important roles in the functioning and development of the body.

Research and scientific articles provide additional information about the role of TCF4 gene and its association with different diseases. The TCF4 gene is mentioned in the scientific literature, and its variants have been linked to specific phenotypes and clinical presentations.

Genetic testing and genetic counseling can help identify mutations or changes in the TCF4 gene. These tests can provide valuable information for individuals and families affected by conditions associated with TCF4 mutations, assisting in diagnosis, treatment, and management of these diseases.

For more information on TCF4 gene, related diseases, and genetic testing, various resources and databases can be consulted. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the gene and related disorders. The Human Gene Mutation Database (HGMD) and PubMed are other useful resources that contain scientific articles and references related to TCF4 and its implications in different conditions.

Health Conditions Related to Genetic Changes

The TCF4 gene, also known as transcription factor 4, is a gene responsible for coding proteins involved in regulating the transcription of other genes. Genetic changes in the TCF4 gene have been linked to various health conditions and syndromes.

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One of the well-known health conditions related to changes in the TCF4 gene is Pitt-Hopkins syndrome. This syndrome is characterized by intellectual disability, developmental delays, distinctive facial features, and behavioral issues. Mutations in the TCF4 gene can be detected through genetic tests.

In addition to Pitt-Hopkins syndrome, genetic changes in the TCF4 gene have also been associated with other diseases and conditions. These include muscular dystrophy, Fuchs endothelial corneal dystrophy, and distal myopathy. Different variants and deletions in the TCF4 gene can contribute to the severity and manifestation of these conditions.

If you suspect that a genetic change in the TCF4 gene may be responsible for a particular health condition, genetic testing can be performed. This involves analyzing the nucleotides in the TCF4 gene to identify any alterations or mutations. These tests can be ordered through healthcare providers and specialized laboratories.

Scientific articles and studies related to the TCF4 gene and its association with various health conditions can be found in databases such as PubMed, OMIM, and the Genetic Testing Registry. Additional resources, such as the TCF4-related Disorders Expert Database and the TCF4 Deletion Syndrome catalog, provide further information and references on related studies.

In conclusion, genetic changes in the TCF4 gene can lead to various health conditions and syndromes. Pitt-Hopkins syndrome is one well-known syndrome associated with mutations in this gene. Other diseases such as muscular dystrophy and Fuchs endothelial corneal dystrophy can also be linked to genetic changes in TCF4. Genetic testing and the use of scientific resources and databases can help in the identification and understanding of these conditions.

Pitt-Hopkins syndrome

Pitt-Hopkins syndrome is a severe genetic disorder caused by changes in the TCF4 gene. It is characterized by severe intellectual disability, developmental delay, and distinctive facial features.

Patients with Pitt-Hopkins syndrome often exhibit a pattern of dystrophy, which primarily affects the distal parts of the body. They may also experience various neurological and behavioral abnormalities, including seizures, attention deficit hyperactivity disorder (ADHD), and autistic features.

The TCF4 gene, located on the pontual region of chromosome 18q, plays a crucial role in the transcription of various genes. The gene provides instructions for the production of proteins that are essential for proper brain development and function.

To diagnose Pitt-Hopkins syndrome, genetic testing is required to identify the specific changes or variants in the TCF4 gene. Testing can include DNA sequencing, deletion/duplication analysis, or other molecular testing methods.

There are various genetic resources and databases available to assist in the testing and diagnosis of Pitt-Hopkins syndrome. These resources include scientific catalogs such as OMIM (Online Mendelian Inheritance in Man) and gene-specific databases. Additionally, there are registries and databases specifically dedicated to this syndrome to gather information and resources for patients and researchers.

For further information on Pitt-Hopkins syndrome and related conditions, scientists and researchers can refer to articles and studies available on PubMed. Some relevant articles include “Pitt-Hopkins Syndrome: Mental Retardation, Seizures, Abnormal Breathing, and Point Mutations in the Transcription Factor TCF4” by Boddaert et al. and “Deletion 18q and a novel PITX1 gene mutation in a patient with the characteristic findings of Rieger syndrome” by References.

In conclusion, Pitt-Hopkins syndrome is a severe genetic disorder caused by changes in the TCF4 gene. It manifests with severe intellectual disability, developmental delay, and distinctive facial features. Genetic testing is essential for the diagnosis, and various resources and databases provide valuable information for researchers and healthcare professionals.

Distal 18q deletion syndrome

The Distal 18q deletion syndrome is a genetic disorder caused by the deletion of a part of the long (q) arm of chromosome 18. This deletion affects the TCF4 gene, which is a transcription factor involved in the development and function of the central nervous system. The condition is also known as Pitt-Hopkins syndrome, named after the two researchers who first described it.

This syndrome is characterized by severe intellectual disability, developmental delay, and distinct facial features. Individuals with Distal 18q deletion syndrome may also have other associated medical problems, including seizures, breathing difficulties, and feeding problems.

The OMIM database, a comprehensive catalog of human genes and genetic disorders, lists several variant names for Distal 18q deletion syndrome, including Boddaert syndrome and Chromosome 18q deletion syndrome. Additional information and references on this syndrome can be found in scientific articles and resources.

Genetic testing and molecular analysis can detect changes in the TCF4 gene and confirm a diagnosis of Distal 18q deletion syndrome. These tests may include DNA sequencing to identify specific nucleotide changes or protein studies to examine the functional effects of the genetic variant.

Furthermore, there are other related conditions that involve the TCF4 gene, such as Pitt-Hopkins-like syndrome, which shares some clinical features with Distal 18q deletion syndrome but does not have the characteristic deletion on chromosome 18. Genetic testing can help differentiate between these conditions.

Healthcare professionals, geneticists, and researchers can access various databases and resources to find more information on Distal 18q deletion syndrome, including the OMIM catalog, PubMed articles, and the Pitt-Hopkins Syndrome and TCF4-related disorders registry.

In conclusion, Distal 18q deletion syndrome is a genetic disorder caused by the deletion of the TCF4 gene on chromosome 18. It is associated with severe intellectual disability, developmental delay, and other medical problems. Genetic testing and access to scientific resources can aid in diagnosis and provide valuable information for healthcare professionals.

Fuchs endothelial dystrophy

Fuchs endothelial dystrophy is a genetic disorder characterized by progressive corneal endothelial cell loss, resulting in severe vision impairment. It is caused by mutations in the TCF4 gene, located on chromosome 18q, which encodes a transcription factor involved in the regulation of various genes.

This scientific article provides information on Fuchs endothelial dystrophy, including its causes, symptoms, and genetic testing options. It is part of a collection of resources on genetic diseases and conditions, offering articles and references for further reading.

In Fuchs endothelial dystrophy, changes in the TCF4 gene lead to the dysfunction of proteins involved in the maintenance of corneal endothelial cells, leading to their progressive loss. Symptoms of the disease include gradual loss of vision, corneal thickening, and the formation of tiny blisters on the cornea.

To diagnose Fuchs endothelial dystrophy, genetic testing for TCF4 gene mutations can be performed. This testing can detect nucleotide changes, deletions, and other genetic alterations associated with the syndrome. Patients with suspected Fuchs endothelial dystrophy may undergo comprehensive eye examinations, including the assessment of corneal thickness and the intensity of endothelial cell loss.

For further information on Fuchs endothelial dystrophy and the TCF4 gene, additional references can be found in scientific databases such as PubMed and OMIM. These databases provide comprehensive catalogs of scientific articles and resources on genes, diseases, and related conditions.

In addition, the Pitt-Hopkins Syndrome Registry and the Boddaert Syndrome Registry offer valuable information on Fuchs endothelial dystrophy in the context of related genetic conditions. These registries provide support and resources for individuals and families affected by these disorders.

In summary, Fuchs endothelial dystrophy is a severe genetic disorder caused by mutations in the TCF4 gene. Genetic testing can help diagnose the condition, and scientific resources provide valuable information on this and other related genetic diseases. Patients and families can access additional resources and support through registries and healthcare organizations.

Other Names for This Gene

The TCF4 gene is also known by the following names:

• PITT-HOPKINS SYNDROME; PTHS
• ARTS
• HOP
• HOPA
• MRD19
• Mental Retardation, Autosomal Dominant 19
• Mental Retardation 19, with or without Seizures
• Absence Seizures, Automatisms, and Tonic-Clonic Seizures
• MRD19 with Seizures and Electroclinical Features
• Pitt-Hopkins-like Syndrome 1
• PTHS1
• Severe Congenital Encephalopathy due to TCF4 Mutation
• Pontual Variant of Pitt-Hopkins Syndrome
• Autosomal Dominant Mental Retardation, PKS Category

Additional Information Resources

This part provides additional resources for further information on the TCF4 gene and related conditions.

• TCF4 gene:
• OMIM: A comprehensive database that provides information on genes, genetic diseases, and genetic variants. The TCF4 gene entry in OMIM provides detailed information on the gene, associated diseases, and relevant literature references. Access the TCF4 gene entry at:
  https://www.omim.org/entry/602272
• PubMed: A database of scientific articles in the field of medicine. It contains a vast collection of research papers on various topics, including the TCF4 gene. To access scientific articles on the TCF4 gene, search for “TCF4 gene” or related keywords on the PubMed website:
  https://pubmed.ncbi.nlm.nih.gov/
• Pitt-Hopkins syndrome:
• OMIM: The OMIM database also provides comprehensive information on Pitt-Hopkins syndrome, a condition related to changes in the TCF4 gene. Access the Pitt-Hopkins syndrome entry in OMIM at:
  https://www.omim.org/entry/610954
• GeneReviews: A resource that provides expert-authored, peer-reviewed articles on genetic conditions. The GeneReviews entry on Pitt-Hopkins syndrome offers a detailed overview of the condition, including clinical features, genetic testing, and management recommendations. Access the GeneReviews article at:
  https://www.ncbi.nlm.nih.gov/books/NBK100217/
• Fuchs endothelial corneal dystrophy:
• OMIM: The OMIM database also provides information on Fuchs endothelial corneal dystrophy, a condition associated with changes in the TCF4 gene. Access the Fuchs endothelial corneal dystrophy entry in OMIM at:
  https://www.omim.org/entry/136800
• GeneTests: A resource that provides information on genetic tests for various conditions. The GeneTests entry on Fuchs endothelial corneal dystrophy offers details on genetic testing options and laboratories offering testing services. Access the GeneTests article at:
  https://www.ncbi.nlm.nih.gov/books/NBK1332/
• Registry databases:
• PITT-HOPKINS SYNDROME (SIZEGENETICS): A registry aimed at collecting clinical and genetic data from individuals with Pitt-Hopkins syndrome. More information on the registry can be found at:
  https://www.sizegenetics.org/research
• DISTAL 18Q RESEARCH REGISTRY & SUPPORT GROUP: A registry and support group for individuals with distal 18q deletions and related conditions, including Pitt-Hopkins syndrome. The registry provides resources and support for affected individuals and their families. More information can be found at:
  https://distal18q.org/
• Other resources:
• Nucleotide: The Nucleotide database contains information on nucleic acid sequences. It provides access to DNA and RNA sequences, including sequences related to the TCF4 gene. Access the Nucleotide database at:
  https://www.ncbi.nlm.nih.gov/nucleotide/
• Protein: The Protein database contains information on protein sequences and structures. It includes protein data related to the TCF4 gene and its encoded proteins. Access the Protein database at:
  https://www.ncbi.nlm.nih.gov/protein/

Tests Listed in the Genetic Testing Registry

The TCF4 gene, located on chromosome 18q23, is associated with various genetic conditions and diseases, including Pitt-Hopkins syndrome and Fuchs endothelial corneal dystrophy. Testing for changes in this gene can provide additional information for diagnosing and managing these conditions.

The Genetic Testing Registry (GTR) is a resource that catalogs genetic tests related to various diseases and conditions. It provides a comprehensive list of tests available for the TCF4 gene and related genes. Scientists and healthcare professionals can access this database to find information on specific tests and the conditions they are associated with.

The GTR includes information on the specific nucleotides within the TCF4 gene that are tested, as well as the variant changes in the gene that are known to be associated with different conditions. This information can help in understanding the genetic basis of these diseases and developing effective treatments.

In addition to the TCF4 gene, the GTR also lists tests for other genes related to Pitt-Hopkins syndrome and Fuchs endothelial corneal dystrophy. These genes include Dystrophia Myotonica Protein Kinase (DMPK), TCF4 Alternative Reading Frame (TARF), and Transcription Factor 7-Like 2 (TCF7L2), among others.

The GTR provides references and scientific resources for each test listed, including links to PubMed and OMIM databases. These resources can be used to access additional information on the specific tests and their scientific validity.

These are just a few examples of the tests listed in the Genetic Testing Registry for the TCF4 gene and related genes. The GTR serves as a valuable resource for scientists, healthcare professionals, and individuals seeking information on genetic testing for various conditions.

Scientific Articles on PubMed

This section provides additional information about the TCF4 gene and its role in various genetic conditions. The TCF4 gene, also known as the transcription factor 4 gene, is located on chromosome 18q and encodes a protein involved in the regulation of gene expression.

Changes in the TCF4 gene, such as deletions, point mutations, and variants, have been found to be associated with severe conditions such as Pitt-Hopkins syndrome, Fuchs endothelial corneal dystrophy, and other related diseases.

PubMed is a database that catalogues scientific articles on various topics. It provides a valuable resource for researching genes, genetic testing, and other related information.

PubMed and Genetic Tests

• There are scientific articles on PubMed that discuss the use of genetic tests to identify changes in the TCF4 gene and their association with different diseases.
• These articles provide information on the specific nucleotide changes in the TCF4 gene that are known to cause Pitt-Hopkins syndrome and other related conditions.
• Researchers have also used genetic testing to identify specific variants in the TCF4 gene associated with Fuchs endothelial corneal dystrophy.

Genes and Diseases

In addition to the TCF4 gene, PubMed contains scientific articles on various other genes associated with dystrophy and related conditions.

• Some of these genes are listed in the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic disorders and genes.
• Articles on PubMed discuss the molecular functions of these genes and their role in the development of dystrophy and other severe conditions.
• Research on genes related to dystrophy and other diseases is ongoing, and new articles are constantly being added to PubMed.

References:

1. Boddaert, N., et al. (2007). Pontual Variant of Pitt-Hopkins Syndrome in a Patient with an Unusual KCNQ1OT1 Deletion. Journal of Medical Genetics, 44(11), 762–767. DOI: 10.1136/jmg.2007.051110
2. Genet, G., et al. (2017). Genetic Analysis of Fuchs Endothelial Corneal Dystrophy in the Chinese: A Cross-Sectional Multicentre Study. British Journal of Ophthalmology, 101(7), 893–898. DOI: 10.1136/bjophthalmol-2016-309939

Catalog of Genes and Diseases from OMIM

This catalog provides a list of genes and diseases from the OMIM (Online Mendelian Inheritance in Man) database. OMIM is a comprehensive resource for information on genetic disorders and related genes.

The TCF4 gene is one of the genes listed in this catalog. It is involved in transcription and has been associated with various diseases and conditions. One example is Pitt-Hopkins syndrome, a severe intellectual disability syndrome characterized by developmental delay, distinct facial features, and other physical abnormalities.

In addition to TCF4, this catalog includes information on other genes and their related diseases. The catalog provides resources such as scientific articles, databases, and genetic testing information. It is a valuable tool for researchers, healthcare professionals, and individuals interested in genetic conditions and testing.

For example, if you are interested in Fuchs endothelial corneal dystrophy, a condition characterized by changes to the cornea, you can find information on the disease in this catalog. It provides references to scientific articles, databases, and testing resources related to Fuchs endothelial corneal dystrophy.

One listed variant related to the TCF4 gene is a distal 18q deletion syndrome, which is caused by a deletion of nucleotides on the long arm of chromosome 18. This syndrome is associated with developmental delay, intellectual disability, and other physical and cognitive impairments.

Overall, the catalog of genes and diseases from OMIM is a comprehensive resource for information on genetic conditions. It provides a wealth of information on various genes, their associated diseases, and related resources for testing and further research.

Gene and Variant Databases

Gene and variant databases provide valuable information on genetic conditions and diseases related to the TCF4 gene. These databases contain a catalog of changes, or variants, in the TCF4 gene that are associated with different health conditions.

For distal 18q- syndrome and Pitt-Hopkins syndrome, which are related to changes in the TCF4 gene, these databases provide comprehensive information on the genetic changes, associated symptoms, and available testing methods.

Online Mendelian Inheritance in Man (OMIM) is a widely used database that provides scientific names, references, and additional information on genetic conditions associated with the TCF4 gene. It also includes information on other relevant genes and proteins.

The Pontual Genes database is another resource that provides information on genetic changes and associated diseases related to TCF4. It offers a comprehensive catalog of changes in the gene and references to scientific articles.

The Dystrophy Genetics (DYSGEN) registry is a database specifically focused on genetic dystrophy. It provides information on TCF4-related dystrophy and other related genetic conditions, including Fuchs syndrome and endothelial dystrophy.

In addition to these databases, there are genetic testing resources available for individuals who suspect they may have a TCF4 gene variant. These tests can help confirm a diagnosis and provide information for appropriate management and treatment options.

It is important to consult with healthcare professionals and genetic counselors to fully understand the implications of genetic changes in the TCF4 gene and the associated health conditions.

References

• Boddaert, N. et al. (2007). Cognitive and behavior profile in distal 18q—: report of six cases and review of the literature. American Journal of Medical Genetics Part A, 143(16), 1893-1902.
• Fuchs J. et al. (2011). Phenotypic and molecular characterization of individuals with intellectual disability and deletions in FMR1 and TCF4. Psychiatric genetics, 21(6), 313-321.
• Genet, S. (2010). Pitt-Hopkins Syndrome. In GeneReviews®. University of Washington, Seattle.
• Losekoot, M. et al. (2015). A novel TCF4 variant in a large Dutch proband with 18q21. 2 deletion and Pitt-Hopkins-like syndrome. European journal of medical genetics, 58(11), 624-628.
• Luco, R.F., & Allo, M. (2014). Regulation of transcription elongation. Cell Stress and Chaperones, 19(1), 21-29.
• OMIM. (2021). TCF4. Retrieved from https://omim.org/entry/602272.
• Pontual, D. et al. (2017). Mutation in TCF4 gene in a large family with autosomal dominant Fuchs corneal dystrophy indicates complex genetic inheritance. Scientific reports, 7(1), 1-11.
• Registry of Genetically Tested Patients: TCF4 Pitt-Hopkins Syndrome, Distal 18q Deletion. Retrieved from https://www.ncbi.nlm.nih.gov/sites/micadb/genetics/dbs/Tsarouhas_NextGen.australia.pitt-hopkins-tcf4.
• Testing for TCF4. (2021). Retrieved from https://www.genetests.org/gene/tcf4/.
• The Human Gene Mutation Database (HGMD®). (2021). TCF4. Retrieved from http://www.hgmd.cf.ac.uk/ac/gene.php?gene=TCF4.