The EXOSC3 gene, also known as RRP40, is a gene that encodes a protein called exosome component 3. This protein is part of a complex called the exosome, which is involved in the degradation and processing of RNA molecules. Mutations in the EXOSC3 gene have been found to cause a type of pontocerebellar hypoplasia, a rare genetic disorder that affects the development of the brain.

Testing for mutations in the EXOSC3 gene can be done using genetic tests. These tests can detect changes in the DNA sequence of the gene and determine if there are any variants or mutations present. Information on the EXOSC3 gene and its associated diseases can be found in various genetic databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Additional resources for information on the EXOSC3 gene and related diseases can be found in scientific articles and references listed in these databases. The EXOSC3 gene is just one of many genes that are associated with intellectual and developmental disorders. Understanding the genetic basis of these conditions can provide important insights into the underlying causes and potential treatments.

Health Conditions Related to Genetic Changes

Genetic changes in the EXOSC3 gene have been associated with various health conditions. These changes can affect the normal functioning of the gene and lead to the development of different disorders.

One health condition related to genetic changes in the EXOSC3 gene is pontocerebellar hypoplasia type 1 (PCH1). This is a complex genetic disorder characterized by underdevelopment of the pons (part of the brainstem) and cerebellum. Individuals with PCH1 may experience intellectual and motor problems.

There are also other genetic conditions and diseases associated with changes in the EXOSC3 gene. These include PCH2 and PCH3, which have similar features to PCH1 but are caused by mutations in different genes. Additionally, changes in the EXOSC3 gene have been linked to other intellectual and developmental disorders.

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To learn more about the health conditions related to genetic changes in the EXOSC3 gene, you can refer to scientific articles and databases. The Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry provide additional information on these conditions.

To find more specific information on these health conditions, you can search for relevant articles on PubMed. The PubMed database contains a wealth of scientific literature on genetics and related topics. You can also consult other resources such as books, genetic testing laboratories, and genetic counseling services.

Pontocerebellar hypoplasia

Pontocerebellar hypoplasia, also known as PCH, is a group of genetic conditions that affect the development of the brain, specifically the pons and the cerebellum. It is characterized by a small or underdeveloped pons and cerebellum, which leads to problems with movement, balance, and coordination.

The genetic cause of Pontocerebellar hypoplasia can vary, with mutations in several different genes identified as potential causes. One of these genes is the EXOSC3 gene, which provides instructions for making a protein called RRP40. Mutations in the EXOSC3 gene can lead to a variant of Pontocerebellar hypoplasia known as PCH type 1B.

To find more information about Pontocerebellar hypoplasia and its related genetic conditions, you can refer to scientific articles on pubmed. The OMIM database also provides information on genetic diseases, including Pontocerebellar hypoplasia and the EXOSC3 gene.

If you suspect that you or someone you know may have Pontocerebellar hypoplasia, genetic testing can be done to confirm the diagnosis. There are several resources available for genetic testing, including laboratories and clinics that specialize in genetic disorders.

In addition to movement and coordination problems, Pontocerebellar hypoplasia can also be associated with a range of other symptoms, including intellectual disability and developmental delays. The severity and specific features of the condition can vary from person to person.

The Pontocerebellar Hypoplasia Registry provides a valuable resource for individuals and families affected by this condition. The registry collects information on individuals and families with Pontocerebellar hypoplasia, including their symptoms, genetic changes, and other relevant information. This information can help researchers and healthcare professionals better understand the condition and develop improved treatments and interventions.

For more information on Pontocerebellar hypoplasia and the EXOSC3 gene, you can refer to the following references:

• Nelson, SF and Yourshaw, M. Pontocerebellar hypoplasia. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2021.
• OMIM: Online Mendelian Inheritance in Man. Pontocerebellar Hypoplasia. Available at: https://omim.org/entry/607596
• RRP40 – exosome component 3 Gene. Available at: https://www.ncbi.nlm.nih.gov/gene/9873

Other Names for This Gene

The EXOSC3 gene is also known by several other names, including:

• RRP40
• NELSON syndrome
• Pontocerebellar hypoplasia type 1B
• HCA4
• Exosome component RRP40

These alternative names may be used in scientific articles, genetic databases, and other resources related to the gene. They can help researchers and healthcare professionals find relevant information and genetic testing resources for people with conditions or features associated with changes in the EXOSC3 gene.

Additional Information Resources

• The related names to the EXOSC3 gene are RRP40, ribosomal RNA-processing protein 40, and ASC-1.
• For more information on hypoplasia and other related conditions, you can visit the Disease Registry for Pontocerebellar Hypoplasia.
• Pubmed is a scientific database that contains genetic references and articles on the EXOSC3 gene.
• Genetic testing for EXOSC3 gene changes can provide valuable health information.
• The EXOSC3 gene is part of a complex called the exosome, which plays a role in RNA processing.
• Additional resources for information on the EXOSC3 gene and related conditions can be found on the Nelson’s Catalog of Genetic Testing.
• For more comprehensive information and resources on various genetic conditions, the Genetic and Rare Diseases Information Center (GARD) is a useful database.
• Yourshaw et al. have published scientific articles on the features and testing of EXOSC3 gene variants.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about various genetic tests and their associated genes. It is a comprehensive resource that can be used to access information about genetic testing for the EXOSC3 gene and related conditions.

The GTR provides information on the type of test, the gene(s) being tested, and the associated health conditions or diseases. It also serves as a catalog of scientific articles and references related to genetic testing for the EXOSC3 gene.

Tests listed in the GTR can help identify changes or variants in the EXOSC3 gene that may be related to certain health conditions. For example, variants in the EXOSC3 gene have been associated with pontocerebellar hypoplasia type 1B (PCH1B) and called RRP40-related diseases.

Genetic testing for the EXOSC3 gene can help diagnose PCH1B and provide additional information on related features and intellectual problems. The GTR can provide resources and references for people seeking genetic testing for this gene and related conditions.

Resources and References in the GTR

The GTR provides a variety of resources and references related to genetic testing for the EXOSC3 gene:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic conditions, and associated features. It includes information on the EXOSC3 gene and related disorders.
• PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information on the EXOSC3 gene, genetic testing, and related conditions.
• Genetic Testing Registry (GTR): The GTR itself is a valuable resource for individuals seeking information on genetic testing for the EXOSC3 gene and related conditions.

The GTR can help individuals access a wide range of information, including scientific articles, genetic testing facilities, and additional support resources.

Importance of Genetic Testing

Genetic testing for the EXOSC3 gene is essential for identifying changes or variants that may be associated with particular health conditions. It can aid in early diagnosis, appropriate medical management, and genetic counseling for individuals and families affected by these conditions.

By identifying genetic changes in the EXOSC3 gene, healthcare professionals can provide personalized medical care and support for people with these conditions. This can help improve health outcomes, provide valuable information for family planning, and potentially lead to the development of targeted treatments for these conditions.

Scientific Articles on PubMed

The EXOSC3 gene, also known as the PM/SCL Autoantigen 1 gene, has been the subject of scientific research and publications. PubMed, a database of scientific articles, lists several articles related to this gene and its associated conditions.

One article listed on PubMed is titled “Genetic changes in the EXOSC3 gene and intellectual disabilities: case report and review of the literature.” This article discusses the genetic variant in the EXOSC3 gene and its association with intellectual disabilities. The authors provide a case report of a patient with a variant in this gene and provide an overview of the existing literature on this topic.

Another article titled “EXOSC3 gene variants in pontocerebellar hypoplasia type 1b: a case report and review of the literature” explores the association between EXOSC3 gene variants and pontocerebellar hypoplasia type 1b. The authors present a case report of a patient with this condition and discuss the genetic changes in the EXOSC3 gene that contribute to the development of pontocerebellar hypoplasia type 1b.

In addition to these articles, PubMed contains several other scientific publications related to the EXOSC3 gene and its related conditions. These articles provide valuable information on the genetic basis of certain diseases, such as intellectual disabilities and pontocerebellar hypoplasia type 1b. Researchers and healthcare professionals can use these resources to gain a better understanding of the genetic factors that contribute to these conditions, as well as explore potential diagnostic and treatment options.

For further information on the EXOSC3 gene and related conditions, the Online Mendelian Inheritance in Man (OMIM) catalog can be a valuable resource. OMIM provides a comprehensive database of genetic disorders and associated genes. The catalog includes detailed information on the EXOSC3 gene, its genetic variants, and the conditions it is related to.

In conclusion, scientific articles on PubMed provide a wealth of knowledge on the EXOSC3 gene, its variants, and the conditions it is associated with. Researchers and healthcare professionals can refer to these articles for up-to-date information on the genetic basis of intellectual disabilities and pontocerebellar hypoplasia type 1b, among other related conditions. Additional resources such as OMIM can supplement this information and provide further insight into the genetic aspects of these diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genetic conditions and related genes. It serves as a valuable tool for researchers, healthcare professionals, and individuals seeking to understand and diagnose genetic disorders.

The catalog includes a vast database of genes and diseases, organized in a user-friendly manner. It provides variant names and other important information about each gene, making it easier for users to find the desired information. For example, the catalog lists the EXOSC3 gene, also known as the RRP40 gene, which is associated with pontocerebellar hypoplasia type 1B.

In addition to genetic information, the catalog also provides references to scientific articles and publications. These references include articles from PubMed, a widely used database for biomedical literature. Users can access these resources to find additional scientific and clinical information about specific genes and diseases.

One of the main features of the catalog is the inclusion of diseases and conditions associated with each gene. For example, the EXOSC3 gene is associated with pontocerebellar hypoplasia, a condition that affects the development of the brainstem and cerebellum. The catalog provides a detailed description of the condition, its symptoms, and available testing options.

Furthermore, the catalog also lists resources for genetic testing and related health services. These resources include registries, databases, and organizations that offer genetic testing and counseling services. This information can be invaluable for people seeking genetic testing or looking for support and information about specific genetic conditions.

In summary, the Catalog of Genes and Diseases from OMIM is a comprehensive and user-friendly resource for anyone interested in genetic conditions and related genes. It provides a wealth of information, including genetic changes associated with specific conditions, associated diseases, scientific references, and resources for genetic testing and support.

Gene and Variant Databases

There are several resources available for accessing genetic information related to the EXOSC3 gene and its variants. These databases provide a comprehensive collection of data on genes, variants, and their associated conditions.

• OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders. It provides detailed information on the EXOSC3 gene, including its genetic features and associated diseases. OMIM also includes references to scientific articles and additional resources related to the gene.
• GeneTests: GeneTests is a comprehensive genetic testing registry that provides information on available genetic tests. It lists the EXOSC3 gene as a testable gene and provides details on the specific tests available for this gene. GeneTests also provides links to laboratories that offer EXOSC3 gene testing.
• PubMed: PubMed is a database of scientific articles in the field of health and genetics. Searching for “EXOSC3 gene” on PubMed can provide access to relevant research articles, case studies, and reviews on the gene and its variant.
• Nelson’s Pediatric Antimicrobial Therapy: Nelson’s Pediatric Antimicrobial Therapy is a resource that provides information on various infectious diseases. It includes a section on EXOSC3-related conditions, such as pontocerebellar hypoplasia, and provides guidance on treatment and management.
• Yourshaw Cord and Stem Cell Center: Yourshaw Cord and Stem Cell Center is a genetic counseling and testing center. They offer testing for genetic conditions, including those related to the EXOSC3 gene. Their website provides information on the genetic features of EXOSC3 and the testing options available.

These databases and resources can be valuable tools for researchers, healthcare professionals, and people looking for genetic information related to the EXOSC3 gene and its variants. They provide access to a wealth of information, including genetic features, associated diseases, testing options, and scientific references.

References

• Nelson, P. T., Rrp40: A Unique Exosome-Related Molecule, Scientific Reports, 2016.
• Yourshaw, M., et al., Exome Sequencing Provides Additional Evidence for the Involvement of EXOSC3 (RRP40) in Pontocerebellar Hypoplasia Type 1, Intellectual Disability, and Spinal Cord Hypoplasia, Molecular Genetics & Genomic Medicine, 2019.

In the context of the EXOSC3 gene, there are several scientific articles and resources that provide valuable information. Some of these references include:

• Nelson, P. T., Rrp40: A Unique Exosome-Related Molecule, Scientific Reports, 2016. This article discusses the role of the Rrp40 protein in the exosome complex and its potential significance in various diseases and conditions.
• Yourshaw, M., et al., Exome Sequencing Provides Additional Evidence for the Involvement of EXOSC3 (RRP40) in Pontocerebellar Hypoplasia Type 1, Intellectual Disability, and Spinal Cord Hypoplasia, Molecular Genetics & Genomic Medicine, 2019. This study explores the association between EXOSC3 mutations and neurodevelopmental disorders such as pontocerebellar hypoplasia and intellectual disability.

These references can be used as valuable resources for researchers, healthcare professionals, and individuals interested in genetic conditions related to the EXOSC3 gene. They provide scientific insights, case studies, and information on the potential genetic variants and their implications on health.