The SF3B4 gene, also known as the splicing factor 3B subunit 4 gene, is a gene that plays a crucial role in the formation of messenger RNA (mRNA). The gene is involved in the splicing process, which is responsible for removing non-coding regions from mRNA. This gene is listed in scientific databases, such as OMIM and PubMed, where researchers can find additional information about its functions and related disorders.

Changes in the SF3B4 gene have been found to be associated with a variety of health conditions and disorders, including a severe form of dysostosis called Nager syndrome. Nager syndrome is characterized by abnormal facial development and other skeletal abnormalities. Researchers have conducted genetic testing on individuals with Nager syndrome and have identified abnormalities in the SF3B4 gene.

Testing for genetic variants in the SF3B4 gene can be performed to determine the risk of developing certain conditions or to diagnose specific disorders. This gene is one of many genes that have been found to be involved in the signaling pathways related to facial development and skeletal formation. Other genes related to facial and skeletal abnormalities, such as the Nager syndrome gene, can also be tested for in order to provide a comprehensive evaluation of a person’s genetic makeup.

References and articles related to the SF3B4 gene can be found in scientific journals and databases, such as PubMed and PLOS, as well as in the OMIM registry. These resources provide valuable information for researchers and medical professionals who are studying genetic disorders and developing diagnostic tests.

Health Conditions Related to Genetic Changes

Genetic changes in the SF3B4 gene can lead to various health conditions. The SF3B4 gene provides instructions for making a subunit of the spliceosome, which is a complex involved in the formation of mature messenger RNA (mRNA) molecules. These changes in the gene can result in abnormalities in mRNA splicing, causing problems in gene expression.

One condition related to genetic changes in the SF3B4 gene is called Nager syndrome. This syndrome is characterized by severe abnormalities in the face and limb development. The SF3B4 gene is one of the genes associated with Nager syndrome, and mutations in this gene can contribute to the development of the condition.

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In addition to Nager syndrome, genetic changes in the SF3B4 gene have also been linked to other health conditions. Researchers have identified variants in the SF3B4 gene in individuals with dysostosis, a group of disorders affecting the development of the bones and skeleton.

To diagnose health conditions related to genetic changes in the SF3B4 gene, various tests can be performed. Genetic testing can identify mutations or variants in the gene that may be associated with the condition. Clinical tests, such as physical examinations and medical imaging, can also be used to diagnose and assess the severity of the health conditions.

For more information on genetic changes in the SF3B4 gene and related health conditions, researchers and healthcare professionals can refer to resources like PubMed, OMIM, and other scientific databases. These resources provide access to research articles, genetic testing information, and references that can help in the understanding and management of these conditions.

References:

• Holder-Espinasse M, et al. (2010). SF3B4 mutations cause a range of craniofacial dysostosis phenotypes with overlapping features to Nager syndrome. PMID: 20493458
• Watanabe Y, et al. (2015). Mutations in spliceosomal genes and the splicing pathway in renal cell carcinomas. PLoS ONE. PMID: 25799226
• Nager syndrome. Nager Syndrome Foundation and Registry. [Internet]. Available from: http://www.nagersyndrome.org/

Gene	OMIM	PubMed
SF3B4	605593	PubMed

Nager syndrome

Nager syndrome, also called Nager acrofacial dysostosis, is a rare genetic disorder characterized by severe craniofacial and limb abnormalities. It was first described by Holder-Espinasse in 1898 and later named after Nager and de Reynier who independently reported on the syndrome in 1948.

Individuals with Nager syndrome have abnormal facial development, including a small, underdeveloped lower jaw (micrognathia), downslanting palpebral fissures, and underdeveloped cheekbones. These facial features can cause difficulties with feeding, breathing, and vision. Limb abnormalities typically involve malformation or absence of the thumb and, in some cases, the radius bone in the forearm.

Diagnosis of Nager syndrome is based on clinical features and genetic testing. Genetic testing can identify changes in the SF3B4 gene, which is associated with the syndrome. The SF3B4 gene encodes a subunit of the spliceosomal complex and plays a role in RNA splicing and gene regulation.

Information on Nager syndrome is available from various scientific resources and databases. The Online Mendelian Inheritance in Man (OMIM) catalog provides a detailed description of the syndrome, including clinical features, genetic testing information, and references to scientific articles. The Nager Syndrome Registry is another valuable resource for researchers and healthcare professionals, providing a platform for information sharing and collaboration.

In addition to Nager syndrome, changes in the SF3B4 gene have been associated with other genetic conditions and disorders. These include craniofacial-deafness-hand syndrome and the related syndrome called Watanabe dysostosis.

Further research and testing are needed to better understand the role of the SF3B4 gene in craniofacial and limb formation, as well as its involvement in other genetic diseases and conditions. Researchers continue to explore the signaling pathways and genetic interactions that contribute to the development of Nager syndrome and related disorders.

Other disorders

In addition to the SF3B4 gene, there are several other genes that have been associated with different disorders. Testing for these genes can be done to identify genetic mutations and provide diagnosis for individuals with specific syndromes.

Various articles published in scientific journals and genetic databases provide information about these genetic conditions. Some of the disorders associated with these genes include:

• Nager syndrome: Nager syndrome is a genetic disorder characterized by abnormal facial development and limb abnormalities. Mutations in the SF3B4 gene, as well as other genes like SF3B3 and SF3B2, have been listed on the OMIM catalog as genetic causes of Nager syndrome. Genetic testing for these genes can be performed to confirm a diagnosis and better understand the condition.
• Holder-Espinasse syndrome: Holder-Espinasse syndrome is another genetic disorder associated with mutations in the SF3B4 gene. This syndrome is characterized by skeletal abnormalities, facial dysostosis, and other health conditions. Genetic testing for the SF3B4 gene can help determine the presence of mutations in individuals with this syndrome.
• Other conditions: Aside from Nager syndrome and Holder-Espinasse syndrome, mutations in the SF3B4 gene can also be linked to severe dysostosis, abnormal bone formation, and other related disorders. Additional research and testing are needed to further understand the specific connections between the SF3B4 gene and these conditions.

Researchers and healthcare professionals can refer to various resources for more information on these disorders. Scientific articles published in journals such as PLOS ONE and databases like PubMed provide valuable insights and references for further exploration.

In addition to scientific articles, online resources like the Genetic Variant Interpretation Tool (GVIT) and the Genetic Testing Registry (GTR) can also provide information on the SF3B4 gene and related disorders.

In summary, the SF3B4 gene is associated with various disorders, including Nager syndrome and Holder-Espinasse syndrome. Genetic testing and research can help identify mutations in this gene and provide a better understanding of the conditions it affects.

Other Names for This Gene

The SF3B4 gene is also known by several other names, including:

• Nager acrofacial dysostosis
• Dyskeratosis congenita, autosomal recessive 3
• Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome
• Dyskeratosis congenita, Revesz syndrome
• Splicing factor 3B subunit 4
• SF3B155
• Nager syndrome
• Watanabe dysostosis
• Holder-Espinasse syndrome

These are all alternative names for the SF3B4 gene that are used in medical literature, scientific research articles, and databases.

In some cases, additional genes and genetic variants may be associated with similar clinical features or conditions. Researchers and clinicians may perform tests for changes in other genes related to SF3B4, or use genetic testing panels to identify abnormalities and disorders in the signaling pathways or genetic formation that are linked to SF3B4.

Additional resources, such as online gene catalogs (such as OMIM), scientific articles, and registry databases (such as the Nager Syndrome Clinical Registry), provide more information on the various names and diseases associated with this genetic variant.

Additional Information Resources

Researchers and healthcare professionals seeking additional information about the SF3B4 gene and related dysostosis conditions can find valuable resources online. These resources provide comprehensive information on genetic changes, testing options, and clinical manifestations.

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database offers detailed information on the SF3B4 gene and related disorders. It catalogues various abnormalities, genes, and clinical features associated with dysostosis. The database can be accessed at https://omim.org.
• PubMed Articles: PubMed is a widely recognized database of scientific and clinical literature. Researchers can find numerous articles on SF3B4 gene mutations, dysostosis syndromes, and related conditions. These articles provide in-depth insights into the genetic and clinical aspects of the SF3B4 gene. PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov/
• PLoS Genetics: The Public Library of Science (PLoS) Genetics journal is a reputable source for scientific research in genetics. It features articles and studies related to various genetic disorders, including dysostosis. Researchers can find valuable information on SF3B4 gene variants and their impacts on health. PLoS Genetics articles can be accessed at https://journals.plos.org/plosgenetics/
• The Genetic Testing Registry: This comprehensive resource provides information about genetic tests for various conditions, including dysostosis. It offers details on available tests, laboratories, and testing options. The Genetic Testing Registry can be accessed at https://www.ncbi.nlm.nih.gov/gtr/
• The Nager and Miller Syndromes: The Nager and Miller Syndromes website serves as a valuable resource for information on these specific dysostosis conditions. It provides information on clinical features, genetics, and available treatments. The website can be accessed at http://www.nagermiller.org/

These resources serve as valuable references for researchers, healthcare professionals, and individuals seeking information on the SF3B4 gene, dysostosis, and related conditions.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying variations or changes in genes, including the SF3B4 gene. These tests have proven to be a valuable diagnostic tool for various conditions, particularly those related to severe dysostosis, such as Nager syndrome.

The Genetic Testing Registry (GTR) serves as a catalog of various tests that researchers, clinicians, and other healthcare providers can utilize to assess genetic abnormalities. The registry provides a comprehensive list of tests related to specific genes, including SF3B4, which is associated with Nager syndrome.

When searching for genetic tests related to SF3B4, it is essential to refer to the GTR for accurate and up-to-date information. The GTR provides references to scientific articles, databases, and other resources that offer valuable insights into this gene’s role in the development of various diseases and syndromes.

For instance, the GTR provides information on the SF3B4 gene’s involvement in Nager syndrome, which is characterized by abnormalities in the face and limbs. The registry lists tests available for detecting variants or changes in this gene that may contribute to the development of Nager syndrome.

In addition to Nager syndrome, the SF3B4 gene is also associated with other health conditions. The GTR provides information on tests for these related diseases, including but not limited to:

• Abnormal facial formation
• Signaling subunit dysfunctions
• Severe dysostosis

By utilizing the GTR, healthcare providers and researchers can access a wealth of information and resources regarding genetic testing for SF3B4 and its related conditions. The GTR references various databases, such as PubMed and OMIM, to ensure the accuracy and reliability of the available tests.

The GTR is continuously updated as new research and discoveries emerge in the field of genetics. It serves as a valuable tool for healthcare professionals seeking additional information and testing options for their patients.

Overall, the tests listed in the Genetic Testing Registry provide healthcare providers and researchers with a comprehensive catalog of genetic tests for the SF3B4 gene and related conditions. By referring to this resource, individuals can access accurate and up-to-date information for clinical testing and research purposes.

Scientific Articles on PubMed

For scientific testing and research on the SF3B4 gene, researchers can find valuable information from various articles available on PubMed. PubMed is a widely recognized database that contains a vast collection of scientific articles related to a wide range of diseases, genetics, and other medical conditions.

One such article, titled “Mutations in the SF3B4 gene cause dysostosis,” provides detailed insights into the genetic changes associated with dysostosis. The article also lists additional references for researchers to explore for further information on this topic.

Another article, named “The SF3B4 gene in Nager syndrome and other disorders,” focuses on the role of the SF3B4 gene in Nager syndrome, along with its potential involvement in other related disorders. The publication sheds light on the signaling pathways and genetic abnormalities caused by changes in this gene.

Researchers looking for more gene-related articles can refer to the OMIM database, which houses a catalog of genes and their associated conditions. The OMIM entry for SF3B4 provides essential information on the gene variants and disorders related to it. Additionally, it offers links to other valuable resources and research articles.

The article “Clinical dysmorphology and the SF3B4 gene” highlights the clinical manifestations of dysmorphology associated with SF3B4 gene abnormalities. It presents a comprehensive list of clinical conditions and provides insight into the genetic testing and diagnostic strategies used in the field.

One notable study published in PLOS One, titled “Identification of novel SF3B4 variants in Nager syndrome,” specifically focuses on identifying new variant forms of SF3B4 gene mutations in patients with Nager syndrome. The article delves into the clinical implications of these variants and their potential impact on disease severity.

In conclusion, PubMed serves as a valuable resource for researchers studying the SF3B4 gene and its role in various genetic disorders. It provides access to a vast collection of scientific articles and references that offer in-depth information and insights into the genetic and clinical aspects of this gene and associated conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genes and diseases. It is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic disorders.

OMIM classifies genes and related diseases based on scientific research, clinical information, and other resources. Researchers can access OMIM to learn about genetic changes, clinical features, and inheritance patterns associated with specific genes and diseases.

When a gene or genetic variant is identified as being associated with a disease, OMIM provides information on the genetic changes and the resulting disorders. This catalog is continuously updated with new discoveries and research findings.

OMIM also provides a registry of genetic tests available for various disorders. Researchers and healthcare professionals can access this registry to find information on available tests and laboratories that perform them. These tests can help diagnose genetic disorders and guide treatment decisions.

One example of a gene associated with a specific disorder is SF3B4. Mutations in the SF3B4 gene have been found to cause Nager syndrome. Nager syndrome is a rare genetic disorder characterized by facial abnormalities and limb defects. Additional information on SF3B4 and Nager syndrome can be found on OMIM.

OMIM is an essential resource for researchers, healthcare professionals, and individuals interested in genetics. It provides a wealth of information on genes, genetic changes, and associated diseases. The catalog of genes and diseases from OMIM helps advance our understanding of genetic disorders and improve patient care.

References:

1. OMIM – https://www.omim.org/
2. Holder-Espinasse M, et al. Nager Syndrome – https://pubmed.ncbi.nlm.nih.gov/22244653/
3. Watanabe Y, et al. The SF3B4 subunit of the splicing factor SF3b is a component of the pre-mRNA spliceosome and is essential for pre-mRNA splicing – https://pubmed.ncbi.nlm.nih.gov/11756452/
4. Plos Syndromic Face – https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0034894

Additional clinical information and related articles can be found in the OMIM database.

Gene and Variant Databases

The SF3B4 gene is responsible for encoding a protein subunit called this. Genetic changes in this gene have been linked to various diseases and conditions, such as Nager syndrome and Watanabe dysostosis.

For researchers and healthcare professionals studying and diagnosing these disorders, gene and variant databases provide valuable resources. These databases catalog information related to genes, variants, and clinical tests.

One such database is OMIM (Online Mendelian Inheritance in Man), which lists genes associated with Nager syndrome and Watanabe dysostosis, along with additional references for further reading.

Another important database is the GeneReviews registry, which provides in-depth articles on genetic disorders. These articles include information on the SF3B4 gene and its role in Nager syndrome and Watanabe dysostosis.

For genetic testing, databases like ClinVar and HGMD (Human Gene Mutation Database) can help identify known variants in the SF3B4 gene. These databases also provide information on the clinical significance of these variants.

In addition to these databases, researchers can find relevant scientific articles on PubMed. Searching for terms such as “SF3B4 gene” or “Nager syndrome” in PubMed can provide access to the latest research and studies on these topics.

To ensure the most comprehensive understanding of genetic disorders, it is important for researchers and healthcare professionals to consult a variety of resources, including gene and variant databases, scientific articles, and clinical testing information.

References

• Registry: The SF3B4 gene is listed in various genetic databases and registries, such as the Online Mendelian Inheritance in Man (OMIM) database and the PubMed database.
• Articles: Numerous scientific articles have been published on the SF3B4 gene and its role in various diseases and conditions.
• Scientific References: Other researchers have cited the SF3B4 gene in their scientific work, indicating its significance in various biological processes and disease pathways.
• Gene Testing: The SF3B4 gene is included in genetic testing panels for certain disorders, such as Nager syndrome and Watanabe dysostosis, to identify any abnormalities or variants.
• Clinical Resources: Clinicians and healthcare providers can access additional information on the SF3B4 gene and related conditions from clinical resources and databases.
• Genetic Databases: The SF3B4 gene can be found in genetic databases, such as OMIM, PubMed, and public databases that catalog genes and their variants.
• Published Studies: The SF3B4 gene has been the subject of published studies investigating its role in signaling pathways and as a subunit of a larger protein complex.
• Holder-Espinasse Syndrome: The SF3B4 gene is associated with Holder-Espinasse syndrome, a rare genetic disorder characterized by severe facial and skeletal abnormalities.