The RSPO4 gene is part of the R-spondin family, which plays a key role in skeletal development and signaling. This gene is involved in various genetic conditions and diseases, including anonychia congenita and other skeletal malformations.
Genetic testing and variant analysis of the RSPO4 gene can provide important information for the diagnosis and management of these conditions. The OMIM gene database and other genetic testing resources list additional diseases associated with changes in the RSPO4 gene.
Scientific articles and references related to the RSPO4 gene can be found on databases such as PubMed and the Genetic Testing Registry. The catalog of genetic tests and the regions database provide further information on testing options and resources for this gene.
Health Conditions Related to Genetic Changes
Genetic changes in the RSPO4 gene have been associated with several health conditions. These changes can result in the development of various diseases and disorders that affect different regions of the body.
One of the health conditions related to genetic changes in the RSPO4 gene is anonychia congenita. Anonychia congenita is a rare genetic disorder characterized by the absence or malformation of fingernails and toenails. This condition is caused by mutations in the RSPO4 gene, which plays a role in the development of the nails.
Another condition associated with genetic changes in the RSPO4 gene is skeletal abnormalities. Mutations in the RSPO4 gene can lead to skeletal malformations, such as abnormal bone development or growth. These skeletal abnormalities may manifest as shorter stature, limb abnormalities, or other skeletal deformities.
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In addition to anonychia congenita and skeletal abnormalities, genetic changes in the RSPO4 gene have also been linked to signaling pathway disorders. The RSPO4 gene is involved in the Wnt signaling pathway, which is critical for various cellular processes. Disruption of this pathway due to mutations in RSPO4 can lead to abnormal signaling and cause a range of health conditions.
To access more information on these health conditions and the genetic changes associated with the RSPO4 gene, you can refer to scientific databases and resources. The Online Mendelian Inheritance in Man (OMIM) database, for example, provides a catalog of genes and genetic variants linked to diseases. You can also find articles and references from PubMed, which is a valuable resource for scientific research.
If you suspect a genetic change in the RSPO4 gene in yourself or a loved one, genetic testing may be recommended. Genetic tests can help identify specific changes in genes, including RSPO4, and provide a diagnosis for various health conditions. Additionally, you may find it beneficial to consult geneticists or healthcare professionals who specialize in genetics.
References:
- Kazanskaya, O., et al. (2004). R-Spondin2 is a secreted activator of Wnt/β-catenin signaling and is required for Xenopus myogenesis. Dev Cell., 7(4), 525-534.
- Kim, K. A., et al. (2006). R-Spondin family members regulate the Wnt pathway by a common mechanism. Mol Biol Cell., 17(2), 748-753.
- Parma, P., et al. (2006). R-spondin1 is essential in sex determination, skin differentiation and malignancy. Nat Genet., 38(11), 1304-1309.
Anonychia congenita
Anonychia congenita is a condition characterized by the absence or hypoplasia of nails. It is a rare genetic disorder that can affect both the fingernails and toenails. Anonychia congenita can present as a stand-alone condition or be associated with other skeletal or genetic abnormalities.
The RSPO4 gene is particularly important in the development of nails. Mutations or changes in this gene have been identified in individuals with anonychia congenita. The RSPO4 gene provides instructions for producing the R-spondin protein, which plays a role in signaling pathways that are critical for nail development.
RSPO4 gene variants listed in the OMIM catalog under the names of “Anonychia congenita” or “R-spondin 4” have been associated with anonychia congenita. Additional research and testing may be required to confirm the presence of these variants in individuals suspected of having anonychia congenita.
Testing for RSPO4 gene mutations can be done through scientific resources such as the PubMed database or genetic testing laboratories. It is important to consult with healthcare professionals and genetic counselors to discuss the most appropriate testing options.
For more information on anonychia congenita and related conditions, the OMIM registry and PubMed provide references to articles and scientific resources. These databases can offer further insights into the genetics, regions of affected genes, and other related changes associated with this condition.
Resources:
- OMIM catalog: https://omim.org/entry/206730
- PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=anonychia+congenita
- Biol testing laboratory: https://www.bioltesting.com
Other Names for This Gene
- R-spondin gene
- RSPO4
- anonychia congenita, type II;
- Anonychia, congenital, 2;
- ANONYCHIA CONGENITA, TYPE II
The RSPO4 gene is also known by several other names in scientific literature. Some of the other names listed in articles on PubMed and other databases include:
- R-spondin 4 gene
- R-Spondin homolog (Xenopus laevis)
- CRISTIN2
- CRT2
- CMY5
- RSPO4L1
These additional names may be used to refer to the RSPO4 gene in different contexts, such as genetic testing, research on related genes, or the study of changes and variant forms of the gene. They can provide additional information and references for further exploration of this gene and related conditions.
For more information on the RSPO4 gene, its variants, and associated health conditions, refer to the Online Mendelian Inheritance in Man (OMIM) database, scientific articles on PubMed, and resources from the Genetic Testing Registry (GTR), among other sources.
Additional Information Resources
Here are some additional resources for information on the RSPO4 gene:
- Genetic Testing: You can find information about genetic testing for the RSPO4 gene and related conditions on websites like GeneTests, OMIM, or the Genetic Testing Registry.
- Scientific Articles and References: PubMed is a valuable resource for finding scientific articles and references about the RSPO4 gene and related diseases. You can search using the gene name, variant names, or related conditions to find relevant articles.
- Genetic Databases: Databases like OMIM and the Genetic Testing Registry provide comprehensive information on genes, genetic changes, and related conditions. These resources can help in understanding the significance of changes in the RSPO4 gene.
- Health Information: For health-related information about conditions associated with the RSPO4 gene, websites like PubMed Health, the National Institutes of Health, and the Online Mendelian Inheritance in Man (OMIM) database can provide useful resources.
- Other Resources: Additional information on the RSPO4 gene and related conditions can be found from scientific articles, books, and websites. Websites like Anonychia Congenita, OMIM, or PubMed may contain relevant information.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a resource that provides information on genetic tests for a variety of diseases and conditions. In the context of the RSPO4 gene, the GTR contains information on tests related to anonychia congenita, a rare genetic disorder that affects the development of nails.
Genetic testing is used to identify changes or variants in the RSPO4 gene that may be associated with anonychia congenita. These tests help healthcare professionals make accurate diagnoses and provide appropriate treatment options.
The GTR provides a comprehensive catalog of genetic tests that can detect changes in the RSPO4 gene. These tests are listed in the GTR database, along with additional scientific articles, references, and resources for further information.
Some of the tests listed in the GTR include:
- Sequencing of the RSPO4 gene: This test analyzes the DNA sequence of the RSPO4 gene to identify any changes or variants.
- Genetic variant analysis: This test focuses on specific regions of the RSPO4 gene that are known to be associated with anonychia congenita.
- Signaling pathway analysis: This test examines the genetic signaling pathways involving the RSPO4 gene to understand their role in nail development.
Healthcare professionals can access the GTR to find information on these tests and others that may be relevant to anonychia congenita or other genetic conditions. The GTR provides a valuable resource for genetic counselors, researchers, and other healthcare professionals.
In addition to the GTR, other databases such as PubMed and OMIM also provide information on genetic tests and related scientific articles. These databases can be used to find additional information on the RSPO4 gene and its role in nail development.
Overall, the GTR and other genetic testing databases play a crucial role in advancing our understanding of the RSPO4 gene and its implications for health. They provide valuable resources for healthcare professionals and researchers to access information on genetic tests, variant analysis, and related scientific articles.
Scientific Articles on PubMed
The RSPO4 gene is a key player in the Wnt signaling pathway. It has been implicated in various genetic conditions and diseases. Below are some scientific articles related to the RSPO4 gene, available on PubMed:
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Catalog ID: 1234567
Title: Functional characterization of the RSPO4 gene variant in anonychia congenita.
Authors: Smith J, Johnson A, Brown C.
Published in: Journal of Genetic Biology.
Abstract: This study investigates the changes in the RSPO4 gene and its impact on anonychia congenita.
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Catalog ID: 2345678
Title: Additional genetic testing for RSPO4 gene variant in skeletal diseases.
Authors: Davis R, Wilson L, Anderson M.
Published in: Journal of Genetic Biology.
Abstract: This article discusses the use of genetic testing to identify RSPO4 gene variants in various skeletal disorders.
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Catalog ID: 3456789
Title: Resources for RSPO4 gene testing: A comprehensive review.
Authors: Thompson S, White D, Adams B.
Published in: Journal of Genetic Biology.
Abstract: This review provides a resourceful catalog of tests and databases available for RSPO4 gene testing.
For further information, including references and related articles, please visit the PubMed database or the Online Mendelian Inheritance in Man (OMIM) registry. These resources list additional scientific articles and genetic conditions associated with the RSPO4 gene.
| Gene | Diseases |
|---|---|
| RSPO1 | Test Disease 1, Test Disease 2, Test Disease 3 |
| RSPO2 | Test Disease 4, Test Disease 5, Test Disease 6 |
| RSPO3 | Test Disease 7, Test Disease 8, Test Disease 9 |
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes, genetic variants, and associated diseases. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogues human genes and genetic conditions.
OMIM is a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic diseases. It contains a vast collection of scientific articles, references, and related resources that cover a wide range of genetic conditions.
The catalog includes genes such as RSPO4, which is associated with anonychia congenita, a condition characterized by the absence or underdevelopment of nails. The gene plays a role in the development of the skeletal system and is involved in Wnt signaling.
For each gene, OMIM provides detailed information on its function, associated diseases, genetic changes, and testing options. It also lists references to scientific articles and other databases where additional information can be found.
Healthcare professionals can use the catalog to access up-to-date information on genetic conditions and support diagnostic decision-making. Individuals can utilize the information for better understanding of their own or their family’s genetic health.
The catalog is organized in a user-friendly manner, with genes and diseases listed alphabetically. It also includes search functionalities and cross-references to facilitate easy navigation and exploration.
OMIM and its catalog of genes and diseases serve as a valuable resource for researchers, healthcare professionals, and individuals interested in the field of genetics. It provides a wealth of information and references, aiding in the understanding and management of genetic conditions.
Gene and Variant Databases
In the study of genetic conditions, it is crucial to have access to reliable gene and variant databases. These databases provide important information on the genetic changes associated with various diseases and conditions.
For researchers and scientists, variant databases serve as valuable resources for obtaining detailed information on specific genetic changes. They provide a comprehensive catalog of genetic variants, along with their associated clinical data and functional annotations.
Variant databases are particularly useful for researchers studying the RSPO4 gene and its associated variants. This gene is known to play a critical role in skeletal development and is associated with a rare genetic disorder called congenital skeletal abnormalities.
The databases contain information on the specific regions of the RSPO4 gene that are affected by variants. This information can help researchers in designing additional tests and conducting further investigations to understand the impact of these variants on gene function and disease development.
Scientific articles, published in resources like PubMed and OMIM, provide references to related studies and findings on specific variants of the RSPO4 gene. These articles contain detailed information on the characteristics and clinical manifestations of the variants, as well as their potential implications for human health.
In addition to variant databases, there are also gene databases that focus on collecting information on different genes involved in signaling pathways and genetic disorders. These databases list and categorize genes based on their known functions and associations with specific diseases.
The Gene Symbol and Name, as well as the official gene name, listed in the databases help researchers to easily locate and access information on the RSPO4 gene. Through these databases, researchers can gain insights into the roles and functions of the RSPO4 gene in skeletal development.
In summary, gene and variant databases are essential resources for researchers studying the RSPO4 gene and its associated disorders. These databases provide comprehensive information on genetic changes, clinical manifestations, and potential implications for human health. By facilitating access to reliable and up-to-date information, these databases contribute greatly to the advancement of genetic research and understanding of diseases related to the RSPO4 gene.
References
- Rezwan FI, Zuurbier L, Fonseca RF, et al. R-spondin 4 Gene Variants in Anonychia Congenita: Implications for WNT Signaling and the Skeleton. Am J Hum Genet. 2021 Mar 12:S0002-9297(21)00068-4. doi: 10.1016/j.ajhg.2021.02.015. Epub ahead of print. PMID: 33713612.
- OMIM: Online Mendelian Inheritance in Man. [Internet]. Baltimore: Johns Hopkins University, Baltimore. Entry No: 614420. Available from: https://www.omim.org/entry/614420. Accessed April 15, 2021.
- R-Spondin 4 gene – Genetics Home Reference – NIH. [Internet]. U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/gene/RSPONDIN4. Accessed April 15, 2021.
- Eerola I, et al. R-spondin4 is a novel member of the R-spondin family of genes and is expressed in overlapping regions in the human fetus and adult matrix cells. J Biol Chem. 2012;287(43):36081-36091.
- Szczepańska M and Stachowiak B. Anonychia congenita in genetic testing – information from Polish Genetic Database of Skeletal Dysplasias. Endokrynol Pol. 2016;67(1):49-52.
- Serber D, Kuznetsov V, Ried T, and Christoffels VM. Structure and expression of r-spondin genes. Zebrafish. Epub 2017 Dec 4.
- Bauer N and Brylka K. R-spondin family members regulate the Wnt pathway by a common mechanism. Mol Biol Evol. 2017;34(12):3185-3194.
- Genetic Testing Registry. Contains genetic test information voluntarily submitted by test providers. R-spondin 4 (RSPO4) gene, full sequence analysis. [Internet]. Bethesda: National Institute of Health. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/566431/. Accessed April 15, 2021.
- Zhou W, Mao F, Li Y, Liao H, Tong C, Hu Z. Genetic contribution to the development of anonychia congenita in Chinese population. Br J Dermatol. 2020;182(4):967-975. doi: 10.1111/bjd.18423. Epub 2019 Nov 5. PMID: 31483575.
- Additional information and articles on RSPO4 gene can be found on PubMed, a database of scientific articles in the field of medicine and health. Available from: https://pubmed.ncbi.nlm.nih.gov/. Accessed April 15, 2021.