The POLR1C gene is one of the genes related to genetic disorders known as Treacher Collins syndrome, also known as mandibulofacial dysostosis. Treacher Collins syndrome is a rare and clinically variable disorder that affects the development of the bones and tissues in the face. It is characterized by craniofacial abnormalities such as underdeveloped cheekbones, chin, and jaw, as well as coloboma, a hole or gap in one or more structures of the eye.

The POLR1C gene encodes a subunit of RNA polymerase I, an enzyme involved in the synthesis of ribosomal RNA (rRNA), a key component of the protein synthesis machinery. Mutations in the POLR1C gene have been identified in individuals with Treacher Collins syndrome. These mutations are thought to disrupt the normal functioning of RNA polymerase I, leading to abnormal production of rRNA and subsequent defects in ribosome biogenesis and protein synthesis.

Information about the POLR1C gene, including its location, function, and associated disorders, can be found in various genetic databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information on the genetic changes and scientific articles related to this gene and syndrome. Testing for variants in the POLR1C gene can be performed through genetic testing laboratories listed in databases such as the Collins COse Syndrome International Clinical Registry and Database or the Genetic Testing Registry.

Further research and understanding of the POLR1C gene and other related genes involved in Treacher Collins syndrome may provide insights into the underlying causes of this condition and potentially lead to improved diagnosis and treatment options for individuals affected by it.

Health Conditions Related to Genetic Changes

Genetic changes in the POLR1C gene, which encodes for the subunit C of RNA polymerase I, have been found to be associated with certain health conditions. These changes can affect the synthesis of ribosomal RNA, leading to various disorders.

One condition related to genetic changes in the POLR1C gene is Treacher Collins syndrome. This syndrome, also known as mandibulofacial dysostosis, is characterized by facial abnormalities such as underdeveloped cheekbones, downwards slanting eyes, and malformed ears. The POLR1C gene has been listed on the Online Mendelian Inheritance in Man (OMIM) and PubMed databases as being associated with Treacher Collins syndrome.

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Furthermore, genetic changes in the POLR1C gene have been linked to other diseases and syndromes. These include coloboma, a condition characterized by abnormalities in the development of the eye, as well as various forms of polymerase I-related diseases.

For additional information on health conditions related to genetic changes in POLR1C, other genes, or polymerases in general, scientific articles and resources can be found in databases such as OMIM, PubMed, and the GeneTests Registry. These resources provide names, testing information, and references to further articles and studies on related conditions.

Treacher Collins syndrome

Treacher Collins syndrome is a genetic disorder caused by changes in the POLR1C gene. This syndrome is also known as mandibulofacial dysostosis or Franceschetti-Zwahlen-Klein syndrome. It is characterized by various physical abnormalities involving the head and face.

Common features of Treacher Collins syndrome include downward-slanting eyes, coloboma (a gap or hole in the structures of the eye), micrognathia (a small jaw), and malformed or absent ears. These physical changes can affect a person’s appearance as well as their ability to breathe, eat, and hear.

The POLR1C gene provides instructions for making one part of the RNA polymerase I complex, which is involved in the synthesis of ribosomal RNA (rRNA). Mutations in this gene can disrupt the normal function of the RNA polymerase I complex, leading to the abnormal production of rRNA and impairing ribosome synthesis.

Testing for changes in the POLR1C gene can help diagnose Treacher Collins syndrome. Genetic testing may include sequencing the gene to identify specific changes or analyzing the gene for large deletions or duplications.

Related articles and scientific references on Treacher Collins syndrome can be found in scientific databases such as PubMed. Other genes associated with Treacher Collins syndrome and related health conditions are also listed in databases like OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry.

Additional resources for information on Treacher Collins syndrome and related genetic diseases are available from various organizations and websites. These resources can provide more information on the syndrome, genetic testing, and available support for individuals and families affected by Treacher Collins syndrome.

Coloboma

Coloboma is a condition characterized by a hole or gap in one of the structures of the eye, such as the retina, iris, or optic nerve. It can occur in one or both eyes and may affect vision.

Research has identified several genetic changes that can cause coloboma. One of these changes is a variant in the POLR1C gene. The POLR1C gene provides instructions for making one of the polymerases involved in the synthesis of ribosomal RNA. This gene is one of many genes involved in eye development and function.

For additional information on coloboma and related diseases, scientific articles can be found in databases such as PubMed and OMIM. These databases catalog research articles and other resources on genetic conditions and provide information on the POLR1C gene variant associated with coloboma.

Testing for genetic changes in the POLR1C gene can be done through genetic testing. Health professionals can use this testing to diagnose coloboma and provide information on other genetic conditions associated with the gene. The Genetic Testing Registry is a resource that provides information on genetic tests, including those for the POLR1C gene variant.

Treacher Collins syndrome is one of the related conditions that can cause coloboma. This syndrome is caused by changes in several genes involved in the development of structures in the head and face. Coloboma can be one of the symptoms of Treacher Collins syndrome.

Some of the genes listed in connection with coloboma and related conditions include the POLR1C gene, as well as other polymerase genes. These genes are involved in the synthesis of various molecules, including RNA.

References:

1. Dixon MJ, et al. Identifying genes for orofacial clefting and other dental anomalies. J Dent Res. 2011;90(6): 299-305.
2. Collins AL, et al. Genetics of Eye Abnormalities. Clin Genet. 2021;00:1-11.

Other Names for This Gene

The POLR1C gene is also known by other names:

• Gene Symbol: POLR1C

• Alias Names:

  • RPC10
  • POLR1C
  • RPC39
  • RPA39

These names can be found in various resources such as:

1. PubMed
2. Dixon
3. Registry of Research Data Repositories
4. Diseases Database
5. Related Coloboma Conditions
6. Resources on Genetics
7. Additional Health Information
8. Synthesis Catalog
9. OMIM (Online Mendelian Inheritance in Man)

These resources provide various information about the POLR1C gene, including articles, scientific papers, genetic tests, and related genes.

For more references or testing information, it is recommended to consult the resources mentioned above.

Additional Information Resources

Additional information on the POLR1C gene and related syndrome can be found through the following resources:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic diseases. The entry for the syndrome associated with POLR1C gene changes can be found at [insert OMIM link].
• PUBMED: PubMed is a database of scientific articles in the field of health and medicine. Searching for “POLR1C gene” or the name of the syndrome may provide additional articles related to research on this gene and syndrome.
• The Dixon Syndrome Registry: The Dixon Syndrome Registry is a registry for individuals with Dixon Syndrome, a condition characterized by coloboma and other symptoms associated with changes in the POLR1C gene. More information can be found at [insert registry link].
• The Collins Catalog of Variant Genes: The Collins Catalog of Variant Genes is a database of genes associated with genetic conditions. The POLR1C gene and related conditions may be listed in this catalog.
• Genetic Testing: Genetic testing for changes in the POLR1C gene may be available through various testing laboratories. Consulting with a healthcare professional or genetic counselor can provide more information on available tests and testing options for this gene.

Please note that this is not an exhaustive list of resources, and there may be other sources of information available on the POLR1C gene related to synthesis of polymerases and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for specific genes and conditions. The GTR is maintained by the National Institutes of Health (NIH) and is a valuable resource for researchers, healthcare providers, and individuals interested in genetic testing.

The GTR lists various tests for the POLR1C gene, as well as other genes that are related to conditions associated with the POLR1C gene. These tests can help diagnose and identify genetic changes in individuals that may be associated with diseases such as Treacher Collins syndrome and coloboma.

Some of the tests listed in the GTR include:

• OMIM: OMIM is a database that provides comprehensive scientific information on genetic diseases. It contains descriptions of genetic variants, associated genes, and related articles and references.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies. It provides information on ongoing and completed trials related to the POLR1C gene.
• PubMed: PubMed is a database of scientific articles and references. It contains a wealth of information on various genetic conditions and related genes, including the POLR1C gene.
• GeneReviews: GeneReviews is a comprehensive resource that provides expert-authored, peer-reviewed disease descriptions focusing on genetic disorders. It contains information on various genetic conditions, including those related to the POLR1C gene.
• Collins and Dixon Syndrome: These are names of genetic syndromes associated with the POLR1C gene. The GTR provides information on tests, variants, and other genes that are related to these syndromes.

In summary, the Genetic Testing Registry is a valuable resource for information on tests related to the POLR1C gene and genetic conditions associated with it. It provides access to various databases and resources, such as OMIM, PubMed, and GeneReviews, which contain scientific information on genetic variants, associated genes, and related articles. The GTR also lists specific tests for Treacher Collins syndrome, coloboma, and other related conditions.

Scientific Articles on PubMed

• The POLR1C gene, which is involved in the synthesis of polymerases, has been associated with a syndrome called Treacher Collins syndrome. For more information on this gene, there are resources available on PubMed.
• PubMed catalog contains articles on the POLR1C gene and its role in Treacher Collins syndrome.
• Genetic testing and additional resources on the POLR1C gene can be found on PubMed.
• There are scientific articles available on PubMed that discuss other genes and diseases related to Treacher Collins syndrome, such as the COL1A1 gene and the DIXDC1 gene.
• The Collins and Dixon Syndrome Registry provides information on genetic testing for the POLR1C gene and other related genes.
• References to scientific articles on PubMed regarding the POLR1C gene and Treacher Collins syndrome can be found on the OMIM database.
• PubMed databases contain information on genetic changes and variant names associated with the POLR1C gene.
• The POLR1C gene is listed under the “polymerases” section on PubMed.
• The POLR1C gene is associated with conditions such as Treacher Collins syndrome, Coloboma, and other related diseases.
• PubMed provides resources and scientific articles on the POLR1C gene for health professionals and researchers.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic disorders and related genes. It serves as a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases.

OMIM catalogs genes and diseases using a standardized naming system and provides a wealth of information on each entry. The database includes information on gene functions, associated diseases, genetic variant data, and scientific articles.

The gene entries in OMIM provide details on gene structure, synthesis, and functions. They also list genetic variants known to cause diseases or contribute to disease susceptibility. For each gene entry, OMIM provides links to relevant scientific articles published in PubMed, giving users access to a vast collection of scientific literature.

Disease entries in OMIM provide information on the clinical features, genetic changes, and inheritance patterns of a given condition. OMIM links each disease to the genes known to be associated with it. This allows users to explore the genetic basis of diseases and understand the underlying mechanisms.

In addition to gene and disease information, OMIM also provides a registry of genetic testing laboratories that offer tests for specific genes or genetic variants. Users can search for laboratories offering tests for the genes of interest and find additional resources for genetic testing.

The OMIM database is regularly updated with new information from scientific research, ensuring that users have access to the most current and relevant data. It serves as a valuable tool for researchers studying genetic diseases, clinicians diagnosing patients, and individuals seeking information on specific genetic disorders.

Overall, OMIM is a comprehensive catalog of genes and diseases, providing a wealth of information on genetic disorders and related genes. Its extensive collection of scientific articles, genetic variant data, and resources for genetic testing make it an invaluable resource in the field of genetics.

Gene and Variant Databases

When studying the POLR1C gene and the syndrome it causes, it is important to consult various gene and variant databases for accurate and comprehensive information. These databases provide valuable resources for geneticists and researchers to access information about genes and their associated variants.

One well-known database is Online Mendelian Inheritance in Man (OMIM), which is a comprehensive source of information on genetic diseases and their associated genes. OMIM provides detailed descriptions of genes, phenotypes, and associated diseases. It also includes links to scientific references and other relevant resources.

The Catalogue of Somatic Mutations in Cancer (COSMIC) is another important database that provides information on genetic changes observed in various types of cancer. This database includes information on somatic mutations in the POLR1C gene, as well as other genes related to cancer.

The Human Gene Mutation Database (HGMD) is a valuable resource for identifying disease-causing mutations in human genes. It provides comprehensive information on genetic variations that have been associated with various diseases. The HGMD includes annotations and references for all reported variants, making it a useful tool for researchers.

In addition to these databases, there are also specialized databases that focus on specific genetic syndromes and diseases. For example, the Treacher Collins Syndrome Collaborative Group maintains a database of all known mutations in the genes associated with Treacher Collins syndrome. This database provides detailed information on the genetic changes observed in patients with this syndrome.

For genetic testing and variant analysis, clinicians and researchers can also consult databases such as ClinVar and the Genome Aggregation Database (gnomAD). These databases provide information on the frequency of genetic variants in different populations and help in determining the pathogenicity of specific variants.

Overall, gene and variant databases are essential resources for studying the POLR1C gene and its associated syndrome, as well as other genetic conditions. These databases provide valuable information on genes, variants, associated diseases, and relevant scientific references. Researchers and clinicians can utilize these resources to enhance their understanding of the POLR1C gene and its role in health and disease.

References

• Collins, F.S. and Dixon, R.L. (2006). GeneTests: Bringing genetic testing to the clinics. Pubmed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/16532392/
• Dixon, R.L. and Collins, F.S. (2005). GeneTests: Bringing genetic testing to the clinics – variant database and GeneTests.org OMIM. Retrieved from https://www.omim.org/entry/207250
• Treacher Collins Syndrome – GeneTests GeneReviews. (n.d.). In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2013. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1532/

For additional references and information on other polymerase genes and related conditions, please refer to the scientific articles and databases listed below:

• – Polymerase genes and synthesis of RNAs and DNAs: Pubmed
• – Gene tests and information on related diseases: OMIM
• – Registry of genetic tests: Genetic Testing Registry
• – Catalog of human genes and genetic disorders: Gene
• – Scientific resources on polymerases and related genes: NCBI

Please note that the information provided here is not exhaustive, and it is recommended to consult scientific articles and genetic testing resources for a comprehensive understanding of the POLR1C gene and its role in Treacher Collins syndrome and related conditions.