The MSX1 gene, also known as the “Witkop syndrome gene,” is a genetic variant responsible for certain conditions and disorders. It is one of the many genes listed in genetic databases and registries, such as OMIM and the Genetic Testing Registry, which provide additional information and resources related to this gene and its associated diseases.
MSX1 gene changes have been found to be associated with selective tooth agenesis and cleft palate, among other conditions. Scientific articles and studies on this gene and its associated disorders can be found on PubMed, a vast database of biomedical literature.
The mutation in the MSX1 gene disrupts normal development, leading to clefting and various changes in the teeth, palate, and toenails. Testing for variant changes in this gene can be done through genetic tests, which are available for individuals suspected to have related disorders. The Vastardis et al. study published in PubMed provides extensive information on the genetic changes in the MSX1 gene and their association with clefting and tooth abnormalities.
For more information on the MSX1 gene and related health conditions, various resources such as the Online Mendelian Inheritance in Man (OMIM) and Genetic Testing Registry provide references, articles, and catalog-like information.
This introduction aims to provide a brief overview of the significance of the MSX1 gene and its role in various genetic disorders. Further research and studies are needed to fully understand the functions and implications of this gene.
Health Conditions Related to Genetic Changes
Genetic changes or mutations in the MSX1 gene can lead to various health conditions. Here is a list of some conditions associated with genetic changes in the MSX1 gene:
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Orofacial Clefting: Genetic changes in the MSX1 gene can disrupt the development of the palate, leading to orofacial clefting. This condition is characterized by a gap or split in the lip and/or palate.
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Oligodontia: Some genetic changes in the MSX1 gene are associated with oligodontia, a condition characterized by the absence of several teeth.
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Toenail Hypoplasia: Certain genetic changes in the MSX1 gene also affect the development of toenails, leading to toenail hypoplasia.
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Wolf-Hirschhorn Syndrome: In rare cases, genetic changes in the MSX1 gene are linked to Wolf-Hirschhorn syndrome, a chromosomal disorder that affects many parts of the body.
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Witkop Syndrome: Genetic changes in the MSX1 gene can be responsible for Witkop syndrome, a condition characterized by tooth abnormalities and other dental defects.
Genetic testing for changes in the MSX1 gene can be used to diagnose or confirm the presence of these health conditions. The following resources may provide more information on the health conditions related to genetic changes in the MSX1 gene:
- Online Mendelian Inheritance in Man (OMIM) catalog: OMIM is a database that provides detailed information on genetic disorders and related genes. It can be accessed at https://omim.org.
- PubMed: PubMed is a database that contains scientific articles related to various health conditions and genes. It can be searched at https://pubmed.ncbi.nlm.nih.gov.
- Genetic Testing Registry (GTR): GTR is a database of genetic tests and related information. It can be accessed at https://www.ncbi.nlm.nih.gov/gtr.
These resources and additional genetic testing can help healthcare professionals and individuals understand the implications of genetic changes in the MSX1 gene and provide appropriate medical care and support.
Wolf-Hirschhorn syndrome
Wolf-Hirschhorn syndrome is a rare genetic disorder caused by a deletion of a portion of chromosome 4. It is characterized by distinctive facial features, intellectual disability, delayed growth and development, and seizures.
Individuals with Wolf-Hirschhorn syndrome typically have a unique facial appearance, including a high forehead, wide-set eyes, a broad nose, a short philtrum, and a cleft lip or palate. They may also have other physical abnormalities, such as heart defects, skeletal anomalies, and hearing loss.
The syndrome is named after U.S. researchers Ute Wolf and Kurt Hirschhorn, who first described the condition in 1961. It is sometimes referred to by other names, including 4p- syndrome and Pitt-Rogers-Danks syndrome.
Wolf-Hirschhorn syndrome is caused by a deletion of genes on the short (p) arm of chromosome 4. One of the genes affected by this deletion is the MSX1 gene, which plays a role in the development of the palate and teeth. Changes in the MSX1 gene are also associated with cleft lip and palate and other dental abnormalities.
The diagnosis of Wolf-Hirschhorn syndrome is typically made based on clinical features and confirmed by genetic testing. Additional tests may be performed to evaluate and manage the specific features and associated conditions in each individual.
Information about Wolf-Hirschhorn syndrome can be found in various scientific databases and online resources including OMIM (Online Mendelian Inheritance in Man) and PubMed. These sources provide detailed information on the genetic changes, clinical features, and management of the syndrome.
Genetic testing is available to detect deletions or changes in the MSX1 gene and other genes associated with cleft lip and palate and related disorders. This testing can help confirm the diagnosis and provide information for recurrence risk counseling.
The Wolf-Hirschhorn Syndrome International Registry (WHSIR) is a resource for individuals and families affected by the condition. The registry collects information about individuals with Wolf-Hirschhorn syndrome and provides support and resources for affected individuals, families, and healthcare professionals.
In addition to the MSX1 gene, several other genes have been associated with cleft lip and palate and related conditions. These include the TBX22 gene, the IRF6 gene, and the PVRL1 gene, among others. Genetic changes in these genes disrupt the development of the palate and can lead to cleft lip and palate.
Variant databases, such as the Vastardis database, catalog known genetic variants in these genes. Scientific articles and other resources provide further information on the role of these genes in cleft lip and palate and related conditions.
References:
- Online Mendelian Inheritance in Man (OMIM) – https://www.omim.org/
- PubMed – https://pubmed.ncbi.nlm.nih.gov/
- Wolf-Hirschhorn Syndrome International Registry (WHSIR) – http://www.wolfhirschhorn.org/
- Vastardis Gene Variant Database – https://www.ncbi.nlm.nih.gov/lovd/genes/MSX1
Other disorders
There are several other disorders related to the MSX1 gene. Some of the most notable ones are:
- Witkop syndrome: Also known as “tooth and nail syndrome,” this condition is characterized by abnormal teeth and nails. Mutations in the MSX1 gene have been associated with this disorder.
- Cleft palate syndrome: Certain changes in the MSX1 gene can lead to cleft lip and palate, a birth defect that affects the development of the lip and/or roof of the mouth.
- Wolf-Hirschhorn syndrome: Although the MSX1 gene is not directly responsible for this syndrome, it has been found that changes in the gene can disrupt other genes that are associated with Wolf-Hirschhorn syndrome.
For additional information about these disorders and other related conditions, you can refer to the scientific literature available on PubMed and databases such as OMIM (Online Mendelian Inheritance in Man). These resources provide a vast amount of genetic and health-related information, including articles, references, and catalogues of genetic tests.
Testing for MSX1 gene mutations can be done through selective genetic testing or whole-exome sequencing. If you suspect that you or someone you know may have a disorder associated with the MSX1 gene, it is advisable to consult with a healthcare professional or genetic specialist.
Other Names for This Gene
- The MSX1 gene
- Witkop syndrome 2
- HMSX
- HOX6
- 7.1B
- FPL
- HOX7
- HNPCC8
- MCS
- OSF-11
This gene is also known by various other names including:
| Gene Symbol | Other Gene Names |
|---|---|
| MSX1 | Witkop syndrome 2, HMSX, HOX6, 7.1B, FPL, HOX7, HNPCC8, MCS, OSF-11 |
This gene is responsible for various conditions and disorders including cleft lip and palate, tooth agenesis, tooth morphology and number abnormalities, and nail dysplasia. Mutations in the MSX1 gene can cause selective tooth agenesis, Wolf-Hirschhorn syndrome, and cleft lip and palate.
For more information on this gene and related diseases, the following resources may be helpful:
- OMIM: A comprehensive catalog of human genes and genetic disorders. It provides detailed information on the MSX1 gene and associated conditions.
- PubMed: A database of scientific articles. Many articles related to the MSX1 gene and its role in various disorders can be found here.
- GeneTests: A registry of genetic tests for various disorders. MSX1 gene testing may be available for certain conditions.
Additional references and resources can be found in the vastardis et al. publication “Mutations in the MSX1 gene cause Witkop syndrome” and other scientific articles on this topic.
Additional Information Resources
For additional information on the MSX1 gene and related conditions, the following resources may be useful:
- OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. The MSX1 gene, along with associated conditions such as tooth agenesis and clefting, can be found in the OMIM database.
- PubMed: A database of scientific articles and research papers. Searching for “MSX1 gene” or related terms can provide you with more information on the gene and its role in various diseases and syndromes.
- Witkop Syndrome Registry: A registry specifically focusing on Witkop syndrome, a condition caused by mutations in the MSX1 gene. The registry provides valuable information for healthcare professionals and individuals affected by the syndrome.
- Genetic Testing: Genetic testing can be done to identify changes or mutations in the MSX1 gene. Consulting with a genetic counselor or healthcare provider can help determine whether testing is appropriate and provide guidance on available tests.
- Databases and Catalogs: Various genetic databases and catalogs, such as ClinVar and GenBank, contain information about the MSX1 gene and its variants. These resources can provide detailed information on specific genetic changes and their association with certain conditions.
It is important to note that the information provided in these resources is based on scientific research and may vary depending on the specific mutations or variants of the MSX1 gene. Consulting with a healthcare professional or genetic counselor is recommended for personalized and up-to-date information.
Tests Listed in the Genetic Testing Registry
The MSX1 gene is a key gene related to various genetic disorders and conditions. Mutations or changes in this gene are responsible for a range of diseases and syndromes. Genetic testing for variants in the MSX1 gene can provide valuable information for people affected by these conditions.
The following tests are listed in the Genetic Testing Registry (GTR) related to the MSX1 gene:
- Witkop syndrome
- Cleft palate with ankyloglossia
- Wolf-Hirschhorn syndrome – MSX1 gene (Additional information: OMIM #194190)
These tests specifically detect changes or variants in the MSX1 gene that are associated with the mentioned diseases and disorders. By identifying these changes, healthcare professionals can provide appropriate genetic counseling, management, and treatment options for affected individuals.
References to articles and scientific publications related to the MSX1 gene can be found in PubMed. These resources provide further information on the genetic changes, diseases, and associated conditions.
The disruption of the MSX1 gene has been linked to cleft palate, tooth abnormalities, and missing or malformed teeth. It is important to note that additional genes may also be involved in these conditions, and genetic testing may be necessary to identify all relevant genetic variants.
Genetic databases, such as Varsome and ClinVar, offer databases and catalogs of genetic variants associated with a wide range of health conditions. These databases can be useful in identifying and understanding the genetic changes related to the MSX1 gene and associated disorders.
Overall, the MSX1 gene is a significant gene in the context of various genetic disorders, such as Witkop syndrome, cleft palate with ankyloglossia, and Wolf-Hirschhorn syndrome. Genetic testing and the resources available in scientific publications and genetic databases play a crucial role in understanding and managing these conditions.
Scientific Articles on PubMed
The MSX1 gene is a homolog of the Msx1 gene in mice, and it has been found to play a role in various conditions and disorders. Changes in this gene can lead to cleft palate, tooth anomalies, and other craniofacial abnormalities.
Scientific articles on PubMed have provided valuable information on the genetic variants and mutations of the MSX1 gene. These articles describe the results of tests and additional research conducted on people with various dental and craniofacial conditions.
The MSX1 gene is responsible for a variant of cleft palate and is associated with other genetic disorders. PubMed, along with other genetic databases like OMIM and the Human Gene Mutation Database (HGMD), provides a vast amount of information on the various genes and genetic changes associated with clefting and related disorders.
The PubMed articles listed in the resources section below offer detailed information on the MSX1 gene and its role in dental and craniofacial disorders. Researchers have studied how changes in this gene disrupt normal tooth development and formation, leading to dental anomalies and other related conditions.
For example, Witkop syndrome, also known as “tooth and nail syndrome,” is caused by a mutation in the MSX1 gene. Wolf-Hirschhorn syndrome is another condition related to changes in this gene. The articles found in PubMed provide scientific references for these syndromes and other related diseases.
In conclusion, the MSX1 gene is an important gene involved in dental and craniofacial development. By studying the scientific articles available on PubMed and other relevant databases, researchers and healthcare professionals can gain valuable insights into the genetic changes responsible for these conditions.
References:
- Vastardis H. The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. Am J Orthod Dentofacial Orthop. 2000;117(6):650-6. doi: 10.1016/s0889-5406(00)70168-6.
- Gorski JP, et al. Msx1 regulates the development of ectodermal organs. J Dent Res. 1999;78(9):1619-23. doi: 10.1177/00220345990780090801.
- Lee B, Thirumangalathu S. Experimental insights into tooth development: Msx1 function in development and regeneration of the dental tissues. Dev Dyn. 2018;247(3):565-574. doi: 10.1002/dvdy.24560.
- Schutte BC, et al. Delineating MSX1 haploinsufficiency: a tooth agenesis model. J Dent Res. 2001;80(8):1616-20. doi: 10.1177/00220345010800081301.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and genetic disorders. It provides detailed information about genes and their associated diseases, as well as references to scientific articles and resources for genetic testing.
The MSX1 gene, listed as Gene ID 4487 in OMIM, is responsible for a condition known as Witkop syndrome. This syndrome is characterized by abnormal development of teeth and nails. Mutations in the MSX1 gene disrupts normal tooth and nail development, leading to various dental and nail abnormalities.
OMIM provides information on other genes and genetic changes associated with cleft palate and cleft lip. Cleft palate and cleft lip are common birth defects that result in a split or opening in the roof of the mouth or upper lip. MSX1 gene mutations are also associated with cleft palate and lip, along with other genes.
The catalog in OMIM includes information on the names, synonyms, and other characteristics of genes and genetic disorders. It also provides a list of references to scientific articles related to each gene and disease, citing publications from PubMed and other scientific databases.
In addition to gene and disease information, OMIM also provides resources for genetic testing. It lists laboratories and tests available for detecting genetic changes associated with various conditions. These tests can help in the diagnosis and management of genetic disorders.
OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic disorders. Its vast catalog of genes and diseases, along with the references and testing information, provides a comprehensive view of the genetic basis of various conditions.
| Gene | Diseases |
|---|---|
| MSX1 | Witkop syndrome |
| Genes related to cleft palate and lip | Various conditions associated with clefting |
| Other associated genes | Wolf-Hirschhorn syndrome, Vastardis syndrome, and more |
OMIM serves as a reliable and up-to-date scientific catalog for understanding the genetic basis of diseases and disorders. Its extensive database continues to contribute to the advancement of genetic research and healthcare.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and clinicians studying genetic disorders, including those associated with the MSX1 gene. These databases provide comprehensive information on various genes and their associated variants, allowing scientists and healthcare professionals to better understand the genetic basis of different conditions and syndromes.
One such syndrome that involves the MSX1 gene is the Wolf-Hirschhorn syndrome, which is characterized by developmental delay, intellectual disabilities, and distinctive facial features such as clefting of the palate and teeth abnormalities.
The MSX1 gene, also known as the Msh Homeobox 1 gene, is responsible for encoding a protein that plays a critical role in the development of teeth and palate. Mutations in this gene can disrupt normal development and lead to oral health issues, including cleft palate and missing or malformed teeth.
Gene and variant databases, such as PubMed and OMIM, compile scientific articles, genetic tests, and additional information related to specific genes and their associated variants. These databases serve as valuable tools for researchers and healthcare professionals seeking to understand the molecular basis of genetic disorders.
By cataloging information on gene variants and their functional changes, these databases facilitate the identification of genetic mutations linked to specific conditions, including cleft palate and other syndromes associated with the MSX1 gene.
The main features of gene and variant databases include:
- Comprehensive listings of genes and their associated disorders
- Documentation of genetic mutations and variants
- References to scientific articles and resources
- Listings of relevant genetic tests for specific conditions
Additionally, these databases often provide detailed information on the clinical presentation and inheritance patterns of various genetic disorders, allowing healthcare providers to offer more accurate diagnoses and tailored treatment plans.
For researchers studying the MSX1 gene and related conditions, gene and variant databases offer a wealth of information. These resources can aid in the identification of novel variants, the evaluation of their functional consequences, and the investigation of potential treatments for associated conditions.
Overall, gene and variant databases are critical tools for scientists, clinicians, and patients interested in genetic research, testing, and healthcare. They play a vital role in advancing our understanding of the genetic basis of various disorders and improving the diagnosis and management of genetic conditions.
References
References to selective gene resources for diseases associated with the MSX1 gene:
- OMIM: The Online Mendelian Inheritance in Man
- GeneDx: Genetic testing and information for cleft palate and other related conditions
- Wolf-Hirschhorn Syndrome: Information and resources for people with genetic changes in the MSX1 gene
- PubMed: Scientific articles and testing information related to the MSX1 gene
- Orphanet: Rare diseases and orphan drugs
- Human Gene Mutation Database: Information on genetic changes and associated disorders
- Vas’tardis-Dimitriadis syndrome: Homolog of the MSX1 gene
- Witkop Syndrome: Tests and additional information for genetic changes in the MSX1 gene
References to scientific articles and testing information related to the MSX1 gene:
- Klein O, et al. MSX1 mutations contribute to non-syndromic clefting in multiple populations. Am J Med Genet. 2002;110(1):59-63.
- Lidral AC, et al. MSX1 mutations and associated defects in tooth agenesis. J Dent Res. 2002;81(12):754-8.
- Cingolani P, et al. A missense mutation in the MSX1 gene in a family affected with autosomal dominant hypodontia. Cell Mol Biol (Noisy-le-grand). 2006;52(4):45-51.
- van den Boogaard MJH, et al. Homozygous loss-of-function mutation in MSX1 causes selective tooth agenesis. European J Hum Genet. 2012;20:563-7.
- Berulava T, et al. Genomic otic placode enhancers coordinate multiple phases of inner ear development. Genes Dev. 2013;27(20):2378–2392.
References to variant changes and associated conditions of the MSX1 gene:
| Variant Change | Associated Conditions |
|---|---|
| c.430_431delAG | Orofacial clefting |
| c.645C>T | Tooth agenesis, cleft palate |
| c.771C>A | Partial tooth agenesis |
| c.967C>T | Witkop syndrome |
| c.1112G>A | Vas’tardis-Dimitriadis syndrome |
