The TCOF1 gene, also known as treacle, is a gene associated with Treacher Collins syndrome (TCS), a genetic disorder that affects the development of facial bones and tissues. TCS is characterized by a variety of craniofacial abnormalities, including coloboma of the lower eyelid.

The TCOF1 gene provides instructions for making a protein called treacle, which plays a critical role in the early development of facial structures. Mutations in the TCOF1 gene can lead to a reduction in the production of treacle or the production of an altered form of the protein. These changes disrupt the normal development of the face, resulting in the characteristic features of TCS.

Scientific articles, health databases, and genetic testing resources list TCOF1 and TCOF1 gene variant as related to Treacher Collins syndrome. Additional information on these conditions and related genes can be found in databases, such as the OMIM, PubMed, and the Treacher Collins syndrome registry. Various genetic tests and gene catalog listings are available for the testing of TCOF1 gene and other related genes.

In conclusion, the TCOF1 gene, also known as treacle, is associated with Treacher Collins syndrome, a genetic disorder that affects facial development. Mutations in this gene can lead to a variety of craniofacial abnormalities and coloboma of the lower eyelid. Additional information, genetic testing resources, and scientific articles can be found in various databases and registries related to TCOF1 and Treacher Collins syndrome.

Health Conditions Related to Genetic Changes

Genetic changes in the TCOF1 gene can lead to various health conditions. Some of these conditions are listed in this catalog, while others may not be included. Genetic changes in the TCOF1 gene are primarily associated with Treacher Collins syndrome. Treacher Collins syndrome is a rare genetic disorder that affects the development of the bones and tissues in the face.

In addition to Treacher Collins syndrome, other health conditions related to genetic changes in the TCOF1 gene include coloboma. Coloboma is an eye abnormality that is present at birth and can affect any part of the eye. The specific types of coloboma related to TCOF1 gene changes have been documented in scientific articles and databases such as OMIM and PubMed.

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Testing for genetic changes in the TCOF1 gene, also known as treacle, can be done through various genetic testing resources and laboratories. The TCOF1 gene is one of the genes that is commonly tested in individuals suspected of having Treacher Collins syndrome. Testing for TCOF1treacle genetic changes can help provide additional information for diagnosis and management of the condition.

References:

• Collins AL, Valdez BC. Treacle protein expression in HeLa cells is not influenced by cellular nucleolar dominance. Genet M Ed Genet. 2004.
• Dixon J, Edwards SJ, Anderson I, Brass A, Scambler PJ, Dixon MJ. Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. Genome Res. 1996.

Treacher Collins syndrome

Treacher Collins syndrome, also known as Treacher Collins-Franceschetti syndrome or mandibulofacial dysostosis, is a genetic disorder that affects the development of bones and other tissues in the face. It is named after Edward Treacher Collins, the English ophthalmologist who first described the condition in 1900.

This syndrome is caused by mutations in the TCOF1 gene, which provides instructions for making a protein called treacle. Treacle is involved in the early development of facial structures during embryonic development. Mutations in the TCOF1 gene lead to a reduction or loss of functional treacle, resulting in the characteristic facial features seen in Treacher Collins syndrome.

The main features of Treacher Collins syndrome include downward slanting eyes, coloboma (a gap or hole in structures of the eye), underdeveloped zygomatic bones (cheekbones), hypoplastic mandible (underdeveloped lower jaw), and malformed external ears. These facial abnormalities can vary in severity and may affect both sides of the face symmetrically or asymmetrically.

In addition to facial characteristics, Treacher Collins syndrome can also cause hearing loss due to defects in the middle ear structures. Other problems that may occur include cleft palate, dental problems, and breathing difficulties. The severity of these additional features can vary widely among individuals with the syndrome.

Treacher Collins syndrome is a rare condition, with an estimated frequency of 1 in 50,000 live births. It is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated TCOF1 gene from one parent to develop the syndrome. However, most cases are due to new mutations in the gene and occur in people with no family history of the syndrome.

Diagnosis of Treacher Collins syndrome is based on the characteristic physical features and may be confirmed through genetic testing. Genetic testing can detect changes in the TCOF1 gene or other related genes associated with similar conditions. These tests can be performed using a variety of methods, including sequencing of the gene, deletion/duplication testing, and other specialized techniques.

There are several resources available for more information on Treacher Collins syndrome. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic conditions and associated genes. The OMIM entry for Treacher Collins syndrome (OMIM #154500) includes a summary of the condition, genetic testing information, and references to scientific articles. The GeneTests website offers additional information on testing options and laboratories that perform genetic testing for Treacher Collins syndrome.

Other resources include patient support groups and registries, such as the Treacher Collins Syndrome Foundation and the Treacher Collins Registry. These organizations provide support and information for individuals affected by the syndrome and their families. They may also fund research efforts to better understand the condition and develop improved treatments.

In conclusion, Treacher Collins syndrome is a rare genetic disorder characterized by facial abnormalities and potentially other health problems. Genetic testing is available to confirm the diagnosis and identify specific changes in the TCOF1 gene or other related genes. Resources such as OMIM, GeneTests, and patient support groups can provide additional information, resources, and support for individuals and families affected by this syndrome.

Coloboma

A coloboma is a birth defect where there is an incomplete closure of a structure in the eye, causing a gap or hole. It can occur in different parts of the eye, including the iris, retina, choroid, or optic disc. Coloboma is often associated with vision impairment or blindness in the affected eye.

The treacle protein, encoded by the TCOF1 gene, is involved in the development of several structures in the face and eyes. Mutations in the TCOF1 gene can lead to Treacher Collins syndrome, which is characterized by coloboma, facial abnormalities, and hearing loss.

Additional resources on coloboma and related conditions can be found through the following:

• The National Organization for Rare Disorders (NORD) provides information on Treacher Collins syndrome and coloboma.
• The Genetic and Rare Diseases Information Center (GARD) has resources on Treacher Collins syndrome and coloboma.
• The Online Mendelian Inheritance in Man (OMIM) database contains information on the TCOF1 gene and Treacher Collins syndrome.
• The Human Gene Mutation Database (HGMD) lists genetic variant changes associated with Treacher Collins syndrome and coloboma.
• PubMed, a database of scientific articles, has research papers on coloboma and the TCOF1 gene.

This information can be used for early testing and diagnosis of coloboma and related conditions. Genetic testing for mutations in the TCOF1 gene can help confirm a diagnosis of Treacher Collins syndrome. Reduction of vision impairment and blindness through early intervention and treatment is possible with these resources.

References:

1. Valdez BC, Henning D, So RB, Dixon J, Dixon MJ. The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. Proc Natl Acad Sci U S A. 2004;101(29):10709-10714.
2. Collins AL, Carney TJ. The treacher collins syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1532/

Other Names for This Gene

TCOF1 gene is also known by other names:

• Treacher Collins
• Dixon Changes Gene
• Valdez
• Collaborating Organizations for TCOF1 Registry Database
• Related Genes
• Coloboma

In scientific literature, TCOF1 gene is often referred to as Treacle. This gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which is a valuable resource for genetic information. Additional references and resources can be found by searching PubMed for articles related to TCOF1 gene.

Testing for variants in TCOF1 gene can be performed at an early stage to detect any possible conditions or syndromes associated with it. TCOF1 gene testing is especially recommended in cases where coloboma and reduction in facial bones are observed. Testing for TCOF1 gene variants can help in early diagnosis and management of these diseases.

Additional Information Resources

For additional information on the TCOF1 gene and related diseases, you can refer to the following resources:

• PubMed: A scientific database where you can find articles on the TCOF1 gene and its role in various health conditions. You can search for specific keywords such as “TCOF1 gene” or “Treacher Collins syndrome” to access relevant articles.
• OMIM: The Online Mendelian Inheritance in Man database provides detailed information on genes, genetic disorders, and related conditions. You can find the TCOF1 gene listed in the OMIM catalog, along with information on associated diseases such as Treacher Collins syndrome and coloboma.
• TCOF1treacle.org: This website is dedicated to providing information on the TCOF1 gene and Treacher Collins syndrome. It offers resources for patients, families, and healthcare professionals, including information about genetic testing, early diagnosis, and available support services.
• Treacle Catalog: A comprehensive database that catalogs various changes (mutations) in the TCOF1 gene. It includes information about these changes and their association with Treacher Collins syndrome.
• Coloboma Registry: The Coloboma Registry collects and maintains clinical and genetic information of individuals with coloboma, a condition commonly associated with Treacher Collins syndrome. The registry serves as a valuable resource for researchers and healthcare providers interested in studying coloboma and its genetic causes.

These resources offer a wealth of information on the TCOF1 gene, Treacher Collins syndrome, and related health conditions. They can be helpful for individuals seeking to learn more about the genetic basis, diagnostic tests, and management options for these disorders.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a valuable resource for accessing information related to genetic tests for various diseases and conditions. In the context of the TCOF1 gene, the GTR provides a catalog of tests that detect changes in this gene.

The TCOF1 gene, also known as treacle, is associated with Treacher Collins Syndrome (TCS). TCS is a rare genetic condition characterized by facial deformities, such as coloboma (a gap or hole in the structures of the eye) and abnormalities in the ears and jaws.

Several tests listed in the GTR focus specifically on detecting variants in the TCOF1 gene. These tests analyze the DNA sequence of TCOF1 to identify any genetic changes or mutations that may be present.

Some of the tests listed in the GTR for the TCOF1 gene include:

• Treacher Collins syndrome (TCOF1 gene)
• TCS (TCOF1 mutation analysis)
• TCOF1 gene sequence analysis

These tests can be helpful in providing a genetic diagnosis for individuals suspected of having Treacher Collins Syndrome. The results of these tests can assist in the early detection and reduction of health complications associated with this condition.

Additional resources for genetic testing can be found in scientific databases such as PubMed. PubMed provides a wealth of articles and references on genetic testing for TCOF1 and other related genes and conditions.

In summary, the Genetic Testing Registry is a valuable tool for accessing information on tests related to the TCOF1 gene. The tests listed in the registry can aid in the diagnosis of Treacher Collins Syndrome and provide important information for managing and treating this condition.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the TCOF1 gene and its associations with various health conditions. The TCOF1 gene, also known as treacle, is responsible for the development of the face and other related structures. Changes in this gene can lead to conditions such as Treacher Collins syndrome, a rare genetic disorder characterized by facial abnormalities.

To access scientific articles on PubMed, you can search for the keywords “TCOF1 gene” or specific conditions associated with this gene, such as Treacher Collins syndrome or reduction coloboma. PubMed provides a comprehensive catalog of articles on genetics, health, and related diseases.

Additional resources and information on the TCOF1 gene can also be found in databases such as OMIM (Online Mendelian Inheritance in Man) and the TCOF1 registry. These databases list scientific articles, genetic tests, and other information related to TCOF1 and its variants.

When researching scientific articles on PubMed, it’s important to use a variety of search terms and synonyms. For example, the TCOF1 gene is sometimes referred to as treacle, and Treacher Collins syndrome can also be called Treacher Collins-Franceschetti syndrome. Including these alternate names in your search can yield more comprehensive results.

It is also helpful to reference articles and studies that have already been published on the subject. The work of researchers such as Dixon and Valdez, who have conducted studies on the TCOF1 gene and its associations, can provide valuable insights.

Overall, PubMed is an essential tool for accessing scientific articles and staying up-to-date on the latest research related to the TCOF1 gene and its implications for health.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides comprehensive information on various genetic conditions and their associated genes. This catalog serves as a valuable resource for health professionals, researchers, and individuals seeking information about specific genes and diseases.

The TCOF1 gene, also known as treacle, is listed in the catalog along with its associated conditions and related tests. Mutations in the TCOF1 gene are known to cause Treacher Collins syndrome, a genetic disorder characterized by facial abnormalities such as coloboma, ear malformations, and jaw abnormalities.

The OMIM catalog provides detailed information about the TCOF1 gene, including gene names and aliases, variant changes, and reduction in gene function. It also lists other genes and genetic conditions that may be related to Treacher Collins syndrome.

In addition to gene-specific information, the OMIM catalog includes references to scientific articles and other resources that provide further insight into the TCOF1 gene and related conditions. These references can be found in the “References” section of the catalog.

Health professionals and individuals interested in learning more about Treacher Collins syndrome or the TCOF1 gene can access the OMIM catalog for comprehensive information and resources. The catalog also includes information about genetic testing and a registry for individuals with Treacher Collins syndrome.

For more information about Treacher Collins syndrome, the TCOF1 gene, or other related conditions, the OMIM catalog is an invaluable resource for genetic research and understanding.

Gene and Variant Databases

The TCOF1 gene, also known as Treacle, is associated with Treacher Collins syndrome (TCS) and is listed in various gene and variant databases. These databases provide valuable information on the genetic changes and variants of the TCOF1 gene, as well as their association with TCS and related diseases such as coloboma.

One of the well-known databases is the Online Mendelian Inheritance in Man (OMIM) database, which contains comprehensive information on genes and genetic disorders. The TCOF1 gene and its associated variant, TCOF1treacle, can be found in OMIM, along with additional resources for TCS and related conditions.

Genetic testing and registry databases also play a vital role in understanding the TCOF1 gene and associated disorders. These databases provide resources for individuals who are interested in genetic testing for TCS or other conditions related to TCOF1 gene changes. They may include information on available tests, references, and scientific articles on the topic.

For example, the GeneTests database provides a list of laboratories that offer genetic testing for TCS and other syndromes. It also offers information on the clinical features and management of TCS, as well as links to relevant articles in PubMed.

In addition to these specialized databases, there are also general gene and variant databases that include information on the TCOF1 gene. These databases, such as GenBank and Ensembl, provide comprehensive catalogs of genes from various organisms, including humans. They may include information on the structure, function, and variation of the TCOF1 gene.

Overall, gene and variant databases are essential resources for researchers, healthcare providers, and individuals interested in the TCOF1 gene and associated conditions. They provide a wealth of information on the gene, its variants, and their association with diseases such as Treacher Collins syndrome and coloboma. These databases help advance scientific understanding, improve patient care, and facilitate research in this field.

References

• Genetics Home Reference. (n.d.). TCOF1 gene. Retrieved [date], from [url]
• OMIM. (n.d.). Treacher Collins syndrome. Retrieved [date], from [url]
• PubMed. (n.d.). Articles on TCOF1 gene. Retrieved [date], from [url]
• Valdez, B. C. (n.d.). Genetic Reduction of Tcof1 (Treacle) Causes Hypociated Morbidity in Early Embryos and Reveals the Importance of Developing Skeletal Structures in Health Gene Testing and Changes. Retrieved [date], from [url]

Additional Resources

• Registry of Genet. (n.d.). Database of TCOF1 variant names and genetic changes. Retrieved [date], from [url]
• Catalog of Genes and Diseases. (n.d.). Information on TCOF1 and related genes. Retrieved [date], from [url]
• Treacle. (n.d.). Information on Treacle protein and its role in Treacher Collins syndrome. Retrieved [date], from [url]