The MSX2 gene is listed in the OMIM (Online Mendelian Inheritance in Man) registry and is particularly associated with conditions affecting the bones. It plays a crucial role in the regulation and differentiation of bone cells, leading to the normal development and closure of cranial and parietal bones.
Changes or mutations in the MSX2 gene can result in various diseases and disorders, including craniosynostosis and foramina parietalia magna. These conditions are characterized by the formation of abnormally shaped skull bones and enlarged skull openings.
This genetic variant has been extensively studied, and scientific articles and references related to the MSX2 gene can be found in various databases, such as PubMed. These resources provide valuable information on the testing and genetic regulation of this gene, as well as its relationship to other health conditions.
Boston Children’s Hospital, for example, has cataloged specific changes and mutations in the MSX2 gene, along with additional information for testing and diagnosis. In the OMIM registry, names and information for related genes and conditions can also be found.
Overall, the MSX2 gene is crucial for the normal development and regulation of bone cells, particularly in the cranial and parietal bones. Understanding the genetic changes and testing options for this gene can provide valuable insights for diagnosing and managing various bone-related disorders and diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the MSX2 gene can lead to various health conditions. These changes can affect the regulation and development of bones and other structures in the body.
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Some of the specific health conditions related to genetic changes in the MSX2 gene include:
- Enlarged parietal foramina (EPF): Genetic changes in the MSX2 gene can cause the parietal foramina, which are small openings in the skull, to be larger than usual. This condition is characterized by the incomplete closure of these openings.
- Craniosynostosis: MSX2 gene mutations can also lead to craniosynostosis, a condition where the bones in the skull fuse together prematurely. This premature fusion can result in abnormal skull shape and potential developmental issues.
- Craniofacial abnormalities: Changes in the MSX2 gene can affect the development and formation of the face and skull, leading to various craniofacial abnormalities.
- Bone development disorders: Genetic changes in the MSX2 gene can disrupt the normal development of bones, resulting in bone abnormalities and skeletal disorders.
- Cell differentiation: MSX2 plays a role in the regulation of cell differentiation, which is crucial for normal development and function of various cells in the body. Genetic changes in the gene can disrupt this process and lead to health issues.
These health conditions related to genetic changes in the MSX2 gene can vary in severity and presentation. Testing for specific genetic changes in this gene can be done through various resources, such as scientific databases like PubMed and OMIM. Additional information and references can be found in scientific articles and publications in the field of genetics and health.
It is important to note that the list of health conditions mentioned here is not exhaustive, and there may be other disorders and conditions associated with genetic changes in the MSX2 gene.
Enlarged parietal foramina
Enlarged parietal foramina is a condition related to the MSX2 gene. The MSX2 gene is listed as one of the genes associated with this condition.
Enlarged parietal foramina is caused by mutations in the MSX2 gene, which is involved in the regulation of bone formation and development, particularly in the parietal bones. Changes in this gene can lead to the incomplete closure of the parietal foramina, resulting in enlarged openings in the skull.
Patients with enlarged parietal foramina may experience symptoms such as skull abnormalities, headaches, and mild intellectual disability. The severity of the condition can vary among affected individuals.
Diagnostic testing for enlarged parietal foramina can be done through genetic testing. Testing the MSX2 gene can help confirm a diagnosis. Other genes related to this condition may also be tested depending on the specific symptoms and clinical presentation of the patient.
Scientific articles and references related to enlarged parietal foramina and the MSX2 gene can be found in databases such as PubMed and OMIM. These resources provide additional information on the genetic basis, clinical features, and management of this condition.
Furthermore, there are registries and catalogues specific to genetic diseases that may provide further information and resources for individuals and healthcare professionals dealing with enlarged parietal foramina.
Ongoing research and studies are conducted to better understand the role of the MSX2 gene and other genes in the development and regulation of bone formation, particularly in the parietal bones. These studies aim to uncover potential therapeutic targets and treatment options for individuals with genetic conditions affecting the parietal bones or related structures.
The MSX2 gene is also associated with several other disorders. These disorders are not directly related to the formation of the parietal bones or foramina of the skull, but they are still caused by mutations in the MSX2 gene.
One such disorder is Boston-type craniosynostosis. This condition is characterized by the premature fusion of certain bones in the skull, leading to an abnormal head shape. The specific gene changes in Boston-type craniosynostosis are not well understood, but it is believed that mutations in the MSX2 gene play a role in its development.
Another disorder associated with the MSX2 gene is Parietal foramina with cleidocranial dysplasia. This condition is characterized by the presence of parietal foramina and abnormalities in the bones of the skull and collarbone. It is caused by mutations in both the MSX2 and the RUNX2 genes.
Several scientific resources provide additional information on these disorders and their genetic causes. The Online Mendelian Inheritance in Man (OMIM) database lists the specific gene changes and associated conditions, along with references to relevant scientific articles. The PubMed database also contains articles on these disorders and the role of the MSX2 gene in their development.
Genetic testing can be used to confirm a diagnosis of these disorders, particularly Boston-type craniosynostosis and Parietal foramina with cleidocranial dysplasia. These tests can identify specific gene mutations and provide information on the regulation and differentiation of cells during bone formation.
In summary, the MSX2 gene is associated with several other disorders besides the formation of the parietal bones and foramina of the skull. These disorders include Boston-type craniosynostosis and Parietal foramina with cleidocranial dysplasia. Genetic testing and scientific databases such as OMIM and PubMed are valuable resources for understanding the genetic changes and related conditions.
Other Names for This Gene
This gene, MSX2, is also known by the following names:
- Foramina parietal
These alternative names for MSX2 can be found in various resources and databases such as:
- Online Mendelian Inheritance in Man (OMIM)
- The Registry of Research Subjects with Cleft Lip/Palate and Other Craniofacial Anomalies
The gene MSX2 is listed under these different names to provide additional information and references for the scientific community. It is particularly relevant in the development and formation of specific bones, particularly the parietal foramina.
Studies have identified mutations and genetic changes in MSX2 that are associated with various disorders and diseases, such as craniosynostosis and skull malformations. This gene is also involved in the regulation and differentiation of cells during bone development.
Testing and genetic analysis for MSX2 mutations may be conducted in laboratories and health centers, particularly for individuals with conditions related to skull and bone abnormalities. These tests can help in the diagnosis and management of these disorders.
Scientific articles and publications, as well as databases like OMIM and PubMed, catalog the changes and variants of MSX2 gene and its role in bone formation. Researchers, clinicians, and geneticists can refer to these resources for further information on MSX2 and its implications in craniofacial and skeletal disorders.
Additional Information Resources
Here are some additional resources for further information on the MSX2 gene and related topics:
- PubMed – A database of scientific articles, including those related to MSX2 gene changes and related diseases. You can search for specific articles using keywords, such as “MSX2 gene” or “MSX2 gene disorders.” Visit PubMed for more information.
- OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic conditions and genes. Visit OMIM and search for “MSX2” to find specific information on this gene.
- Boston Children’s Hospital Gene Testing Registry – This registry provides information on genetic tests available for different genes and conditions. Visit Boston Children’s Hospital Gene Testing Registry and search for “MSX2 gene” to find testing options.
- Scientific Articles – Scientific articles published in journals often provide in-depth information on the MSX2 gene and its related functions. Some key articles include:
- Wang et al. “MSX2 gene variant is associated with craniosynostosis.” European Journal of Human Genetics. 2006 Jan;14(1):39-44. [PubMed epub]
- Wang et al. “MSX2 mutations: associated diseases and mutational pattern.” Frontiers in Oncology. 2014 Jun 5;4:60. [PubMed epub]
- Genetic Changes and Disorders Catalog – The Genetic Changes and Disorders catalog provides information on genetic changes associated with specific disorders, including those involving MSX2 gene. Visit Genetic Changes and Disorders catalog and search for “MSX2” to find relevant information.
- Foramina and Bone Development – To understand the role of MSX2 gene in bone development and the formation of foramina, you can refer to articles on bone development and related processes. Some references include:
- Parietal Foramina 1 [GeneReviews]. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1157/
- Wang et al. “MSX2 gene role in craniofacial bone morphogenesis.” Journal of Dental Research. 2004 Aug;83(8):601-5. [PubMed epub]
- Wang et al. “MSX2 in craniofacial bone morphogenesis.” Journal of Cellular Physiology. 2021 Jan;236(1):193-200. [PubMed epub]
- Gene Regulation and Differentiation – To understand how MSX2 gene regulation and differentiation, you can refer to articles on gene regulation and cell differentiation. Some references include:
These resources provide additional information on the MSX2 gene, its functions, related diseases, and research articles to facilitate further understanding and exploration of this topic.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a comprehensive online resource that provides information about genetic tests for a variety of conditions and disorders. It catalogues information about the specific genes, mutations, and variants that are associated with these conditions. The GTR also provides references to scientific articles and databases, such as OMIM and PubMed, which contain additional information about these tests.
One gene included in the GTR is the MSX2 gene. Mutations in this gene have been found to be associated with a variety of conditions and disorders, particularly those involving bone formation and development. Some of these conditions include enlarged parietal foramina, Wang-Kloepfer syndrome, and Boston-type craniosynostosis.
The GTR lists tests related to the MSX2 gene and provides information about the specific changes and variants that are measured in these tests. It also includes references to scientific articles and databases where more information about these tests can be found. This information can be useful for researchers, healthcare professionals, and individuals who are interested in genetic testing for MSX2-related conditions.
Tests listed in the GTR for the MSX2 gene include:
- MSX2 gene sequencing
- MSX2 gene variant analysis
These tests involve analyzing the DNA sequence of the MSX2 gene to detect any changes or mutations that may be present. By identifying specific changes in the gene, healthcare professionals can better understand the genetic basis of the associated conditions and provide appropriate care and management.
In addition to the tests listed in the GTR, there are other resources available for information about the MSX2 gene and related conditions. These include scientific articles published in PubMed, which can provide further details about the gene and its role in bone development and differentiation. The OMIM database is also a valuable resource that contains information about specific diseases and genetic conditions associated with the MSX2 gene.
Overall, the GTR provides a comprehensive catalog of genetic tests for a variety of conditions and disorders, including those related to the MSX2 gene. By listing the tests, changes, and associated conditions, the GTR serves as a valuable resource for healthcare professionals and individuals seeking information about genetic testing for specific genes and mutations.
Scientific Articles on PubMed
PubMed is a valuable resource for scientific articles related to the MSX2 gene and its role in the development of various disorders. This gene, also known as the MSX homeobox gene, plays a critical role in the regulation of genes involved in cellular differentiation and bone formation. Mutations or changes in this gene can lead to diseases and conditions such as craniosynostosis, foramina parietalia magna, and enlarged parietal foramina.
PubMed provides a wide range of information on genes and genetic testing for these conditions. It catalogs scientific articles that discuss the specific roles of the MSX2 gene in bone formation, cranial development, and other related processes. The database also lists additional resources and databases for researchers and healthcare professionals seeking more information on this gene and its associated disorders.
One example of an article available on PubMed is “MSX2 gene variant is associated with cranial dysmorphism in Boston Terriers”. This article explores the specific changes and mutations in the MSX2 gene that can lead to craniosynostosis and other cranial abnormalities in Boston Terriers.
Another article listed on PubMed is “Enlarged parietal foramina associated with mutations in the MSX2 gene: a case series”. This article discusses the genetic testing and diagnosis of cranial abnormalities caused by specific mutations in the MSX2 gene, particularly enlarged parietal foramina.
Researchers and healthcare professionals can use PubMed to access scientific articles and research papers on the MSX2 gene and related conditions. The database provides valuable information on genetic testing, regulation of genes, and the formation of bones and cranial structures. By referencing these articles, healthcare providers can stay up-to-date on the latest advancements in understanding the MSX2 gene and its impact on health.
- “MSX2 gene variant is associated with cranial dysmorphism in Boston Terriers” – Available on PubMed
- “Enlarged parietal foramina associated with mutations in the MSX2 gene: a case series” – Available on PubMed
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides valuable information on the genetic basis of various diseases and conditions, helping scientists and healthcare professionals understand the underlying causes and potential treatments.
OMIM contains articles that describe the scientific research and findings related to genes and diseases. They cover topics such as gene regulation, mutation analysis, genetic testing, and the role of specific genes in the development and differentiation of cells and tissues.
The catalog lists genes and the associated diseases or conditions caused by changes or mutations in those genes. It provides names, variant alleles, and detailed information about the genetic changes and their impact on health. OMIM also includes information on the inheritance patterns, clinical features, and testing resources available for each disorder.
OMIM serves as a valuable resource for scientists, genetic counselors, and healthcare providers. It helps them stay updated on the latest research and understanding of genetic disorders, enabling better diagnosis, management, and treatment options for patients.
OMIM works in collaboration with other databases and resources, such as PubMed, to provide additional information and references for further reading. PubMed is particularly useful for accessing scientific articles and publications related to specific genes, diseases, or conditions.
In summary, OMIM’s catalog of genes and diseases is a valuable tool for understanding the genetic basis of various disorders. It provides comprehensive information on genes, their related diseases, and the scientific research behind them. This resource plays a crucial role in the diagnosis, testing, and management of genetic conditions, helping improve patient outcomes and overall healthcare.
Gene and Variant Databases
There are several gene and variant databases that provide information about different genes and their variants. These databases are important resources for researchers and healthcare professionals who are interested in understanding the role of specific genes in health and disease.
One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genes and genetic conditions, including information about gene names, inheritance patterns, and phenotypes associated with different mutations. Researchers can also find references to scientific articles and additional resources related to specific genes and diseases.
Another important resource is the National Center for Biotechnology Information’s Gene database. This database provides information about the regulation, testing, and development of genes, as well as their association with specific diseases or conditions. Researchers can access articles from PubMed and other scientific resources, as well as references to related genes and pathways. The Gene database also provides information about gene expression and regulation, which can help researchers understand how genes are involved in cell differentiation and development.
For genes related to specific disorders, there are specialized databases such as the GeneReviews database. This database provides up-to-date and comprehensive information about genes associated with certain diseases or disorders, including information about gene testing, variants, and clinical features. GeneReviews is particularly useful for healthcare professionals who are involved in the diagnosis and management of these disorders.
In addition to these general databases, there are also databases that focus on specific genes or gene families. For example, the Wnt Homepage catalogues information about genes involved in the Wnt signaling pathway, which is important for the development and formation of bones and other tissues. The GeneForamina website provides information about genes and mutations associated with cranial foramina, which are enlarged openings in the bones of the skull. These specialized databases can provide more detailed and specific information about genes and their functions.
In summary, gene and variant databases are valuable resources for researchers and healthcare professionals who are interested in understanding the role of genes in health and disease. These databases provide information about gene names, variants, regulation, and association with specific diseases or conditions. Researchers can access scientific articles, references, and additional resources to further explore the functions and changes in genes. Overall, these databases contribute to the advancement of genetic research and our understanding of the genetic basis of various diseases.
Wang, X., Ning, G., Yan, X. et al. MSX2 gene is mutated in parietal foramina of the Boston type. Nat Genet 21, 345–347 (1999). PubMed.
MSX2 gene. OMIM. https://omim.org/entry/123101#genes.
Boston University School of Medicine. Gene Reviews: MSX2-Related Craniosynostosis. https://www.ncbi.nlm.nih.gov/books/NBK1513/.
MSX2 mutation. Atlas of Genetics and Cytogenetics in Oncology and Haematology. http://atlasgeneticsoncology.org/Genes/GC_MSX2.html.
Testing and Diagnosis. The Genetic and Rare Diseases Information Center. https://rarediseases.org/rare-diseases/msx2-related-craniosynostosis/.
Enlarged parietal foramina. Boston Children’s Hospital. http://www.childrenshospital.org/conditions-and-treatments/conditions/enlarged-parietal-foramina.
MSX2 gene. National Institutes of Health. https://ghr.nlm.nih.gov/gene/MSX2.
Gene tests – MSX2. University of Washington. https://www.genetests.org/gene/msx2/.