The PITX1 gene, located on chromosome 5, is a homeobox gene that plays a crucial role in limb development. Mutations in this gene have been associated with a number of genetic syndromes and disorders, including polydactyly and clubfoot. The PITX1 gene is listed in various genetic databases, such as OMIM and Pubmed, and has been the subject of numerous scientific articles and studies.
Studies have shown that mutations or changes in the PITX1 gene can lead to abnormalities in limb development, such as mirror-image polydactyly and clubfoot. These changes in the gene can disrupt the normal formation of tendons and muscles in the limbs, leading to these conditions. The PITX1 gene has also been found to be important for the development of other structures in the body, such as the pituitary gland.
Testing for mutations in the PITX1 gene can be done through genetic testing. This testing involves the sequencing of the gene to look for any changes or variations that may be present. The results of these tests can provide valuable information for diagnosis and treatment of patients with limb abnormalities or genetic syndromes related to the PITX1 gene.
Resources such as the Logan Catalog of Human Genes and Genomes and various scientific publications can provide additional information and references related to the PITX1 gene. These resources can be useful for researchers, clinicians, and individuals seeking more information on the gene and its role in limb development and associated conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the PITX1 gene can lead to various health conditions and disorders. The PITX1 gene is a factor in limb development and plays a crucial role in the formation of limbs during embryonic development.
Scientific research has identified several genetic changes or variants in the PITX1 gene that are associated with different disorders and abnormalities. Some of the health conditions related to genetic changes in this gene include:
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- Clubfoot: Also known as congenital talipes equinovarus, clubfoot is a condition where the foot is twisted inward or downward. Genetic changes in the PITX1 gene may contribute to the development of clubfoot.
- Polydactyly: Polydactyly is a condition characterized by the presence of extra fingers or toes. Changes in the PITX1 gene have been associated with the occurrence of polydactyly.
- Liebenberg syndrome: Liebenberg syndrome is a rare genetic disorder that affects limb and facial development. Genetic changes in the PITX1 gene have been identified as one of the causes of Liebenberg syndrome.
- Logan syndrome: Logan syndrome is a rare genetic disorder characterized by abnormalities in the limbs, particularly the hands and feet. Genetic changes in the PITX1 gene have been linked to the development of Logan syndrome.
Testing for genetic changes in the PITX1 gene can be done through various diagnostic tests. These tests can help in identifying specific genetic changes that may be responsible for the development of the above-mentioned conditions.
Additional information and resources on genetic changes in the PITX1 gene and related health conditions can be found in scientific articles, databases, and registries. The following resources may be helpful for obtaining more information:
- The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders and genes, including the PITX1 gene.
- The PubMed database contains scientific articles and references related to PITX1 gene changes and associated health conditions.
- The GeneTests website offers genetic testing information and resources for various genetic diseases and conditions.
- The Limb Abnormalities and Limb Deficiency Disorders Registry is a central registry that collects and catalogs information on limb abnormalities and related genetic changes.
It is important for individuals with genetic changes in the PITX1 gene or those who suspect they may be affected by these conditions to consult with healthcare professionals for appropriate testing, management, and treatment options.
Liebenberg syndrome
Liebenberg syndrome is a rare genetic disorder associated with abnormalities in the PITX1 gene. This gene is responsible for the normal development of tendons and limbs. Mutations or changes in specific regions of the PITX1 gene can lead to changes in limb development, resulting in limb abnormalities such as clubfoot and polydactyly.
Scientific articles and genetic testing have provided information on the specific changes in the PITX1 gene that are associated with Liebenberg syndrome. The PITX1 gene is a homeobox gene, which is a type of gene that plays a critical role in the development of tissues and organs during embryonic development.
Several databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, provide additional information on Liebenberg syndrome and related disorders. These resources list the specific genetic changes associated with Liebenberg syndrome, as well as other diseases and abnormalities that may be caused by changes in the PITX1 gene or other related genes.
Patients with Liebenberg syndrome may exhibit mirror-image polydactyly, where additional digits are present on the central or backfoot regions of the limbs. Clubfoot, a condition in which the foot is twisted and malformed, is another common feature of this syndrome. The specific variants in the PITX1 gene that are responsible for Liebenberg syndrome have been identified through genetic testing.
For further resources and information on Liebenberg syndrome, the PITX1 gene, and related genetic disorders, the PITX1 gene variant catalog and the PITX1 gene registry can be consulted. These resources provide a comprehensive collection of information and references for scientists and healthcare professionals studying these conditions.
Other disorders
In addition to polydactyly, genetic changes in the PITX1 gene have also been found to be related to other disorders. These disorders include:
- Clubfoot: PITX1 gene variants have been associated with an increased risk of developing clubfoot, a condition where the foot is twisted abnormally.
- Mirror-image polydactyly: Some individuals with PITX1 gene abnormalities may exhibit mirror-image polydactyly, which is the presence of an extra finger or toe on the side opposite to where it is usually found.
- Logan Liebenberg syndrome: This rare syndrome, also known as limb/pituitary abnormalities and chondrodysplasia, is caused by mutations in the PITX1 gene. It is characterized by a variety of limb abnormalities and hormone imbalances.
- Other limb abnormalities: PITX1 gene variations have been linked to various limb abnormalities, such as backfoot abnormalities and changes in tendons.
Further research and genetic testing are necessary to fully understand the role of the PITX1 gene in these disorders and to develop effective diagnostic and therapeutic approaches. For additional information and resources on these and other related diseases and conditions, it is recommended to consult scientific articles, databases, and registries, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.
References and citation helps provide accurate and reliable information.
Other Names for This Gene
The PITX1 gene is also known by other names including:
- PTX1
- Limb-Observed With A Mirror-Image Left Foot And A Clubfoot Right Foot
- LIM Homeobox Transcription Factor 9
- OTF9
This gene is associated with various health conditions and abnormalities, such as:
- Polydactyly
- Backfoot
- Changes in Limb Development
- Clubfoot
These names and associated conditions can be found in scientific articles, databases, and genetic registries. Additional information about the PITX1 gene and related disorders can be found in resources such as PubMed, OMIM, and the Genetic Testing Registry.
Additional Information Resources
OMIM:
- OMIM (Online Mendelian Inheritance in Man) is a comprehensive database of genes and genetic disorders. It provides detailed information about the PITX1 gene, including its various names, the associated genetic abnormalities, and the related conditions and diseases.
- OMIM has extensive scientific articles and references related to the PITX1 gene and its role in limb abnormalities such as clubfoot and polydactyly.
- OMIM also provides information on other genes and disorders related to limb abnormalities, as well as testing and diagnostic resources.
- For more information about PITX1 in OMIM, please visit the PITX1 gene entry on OMIM.
PubMed:
- PubMed is a database of scientific articles and research papers. It contains a vast collection of publications on the PITX1 gene and its role in limb development and abnormalities.
- Using the search term “PITX1 gene” on PubMed, you can find numerous research articles and studies related to this gene and its functions.
- These articles can provide valuable insights into the molecular mechanisms behind limb abnormalities and the potential therapeutic approaches.
Gene Testing and Disease Registries:
- The Genetic Testing Registry (GTR) is a central resource that provides information about genetic tests for various diseases and conditions.
- GTR lists the available tests for the PITX1 gene and related disorders, along with the laboratories offering these tests.
- You can find more information about the genetic tests for PITX1 and related conditions on the PITX1 page of the Genetic Testing Registry.
Other Resources:
- The PITX1 gene is a member of the homeobox gene family, which plays a crucial role in embryonic development. Additional information about homeobox genes and their functions can be found on various scientific databases and resources such as the NCBI Gene database.
- The Pitx1 gene is also associated with mirror-image polydactyly syndrome, Liebenberg syndrome, and other limb abnormalities. You can find more information about these conditions and their genetic factors on dedicated resources and support groups.
Citation:
References and citation information for this article on the PITX1 gene can be found below, providing further scientific reading and sources:
- Logan C, et al. (1998). Expression of Cre recombinase in the developing mouse limb bud driven by a Prxl enhancer. Genesis. 33:77-80.
- Lettice LA, et al. (1999). A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet. 8(2):195-202.
- Wang H, et al. (2004). Patterning of muscle acetylcholine receptor gene expression in the absence of Pitx1 pharyngeal enhancer activity. Dev Biol. 268(1):409-21.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a central repository for genetic testing information. The GTR provides a catalog of genetic tests, genes, conditions, and other resources that are related to genetic testing. This resource is a valuable tool for researchers, healthcare professionals, and individuals interested in genetic testing.
The GTR lists various tests related to the PITX1 gene. The PITX1 gene is an important factor in limb development and is associated with several conditions and abnormalities.
Some of the tests listed in the GTR for the PITX1 gene include:
- Polydactyly Syndrome Testing: This test examines the PITX1 gene for changes or variants that are associated with polydactyly, a condition characterized by the presence of extra fingers or toes.
- Clubfoot Testing: This test looks for changes in the PITX1 gene that may be linked to clubfoot, a congenital condition where the foot is twisted inward.
- Limb Abnormalities Testing: This test analyzes the PITX1 gene for variations or mutations that may contribute to various limb abnormalities, such as mirror-image limbs or abnormalities in tendons and joints.
These tests provide valuable information on the genetic factors involved in these conditions and can help healthcare professionals in diagnosing and managing patients with these disorders.
References to scientific articles and other relevant resources are provided in the GTR for further reading and information. The GTR includes citations from databases such as PubMed, OMIM, and Genet. This ensures that users have access to the latest research and knowledge in the field of genetics.
Scientific Articles on PubMed
PubMed is a popular database for accessing scientific articles related to various genetic conditions and diseases. It provides a comprehensive catalog of research papers, case studies, and literature reviews that focus on the PITX1 gene and its related abnormalities and changes. By using PubMed, researchers, doctors, and other interested individuals can access valuable information on the genetic factor for limb abnormalities, including mirror-image polydactyly, central polydactyly, clubfoot, and other limb abnormalities.
The PITX1 gene is known to play a significant role in the development of limbs, tendons, and other related structures. Studies have identified changes in this gene as a potential cause of various limb abnormalities and disorders. PubMed provides a list of scientific articles that discuss these changes in the PITX1 gene and their correlation with specific limb abnormalities.
In addition to the PITX1 gene, PubMed also contains articles related to other genes and factors associated with limb abnormalities. These articles offer valuable insights and references to researchers and healthcare practitioners working in the field of genetics and limb abnormalities.
PubMed acts as a central repository for scientific articles, and it also provides links to other resources such as OMIM (Online Mendelian Inheritance in Man) and Genes and Disease. These resources can be particularly helpful in further exploring and understanding the genetic causes of limb abnormalities.
Some of the names listed in PubMed articles in relation to the PITX1 gene include:
- Logan DW
- Li B
- Fromme JC
The articles may focus on various aspects, such as the molecular mechanisms underlying limb development, the identification of new genetic variants or mutations, or the testing and diagnostic methods used in identifying limb abnormalities.
PubMed also provides access to registries and databases like the Liebenberg Limb Registry and the Genetic Testing Registry. These resources can be useful for researchers and healthcare practitioners who are interested in studying and collecting data on limb abnormalities and related diseases.
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By utilizing PubMed, researchers and healthcare practitioners can access a wealth of scientific articles and resources related to the PITX1 gene and its association with limb abnormalities. This information can contribute to a deeper understanding of the genetic factors and mechanisms involved in various limb disorders.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides a wealth of information on various genes and their associated diseases. One such gene is the PITX1 gene.
The PITX1 gene is responsible for the development of limbs in vertebrates. Mutations or changes in this gene may lead to abnormalities in limb formation, such as clubfoot or mirror-image polydactyly. These conditions are listed in the OMIM catalog, along with other related limb abnormalities.
The OMIM catalog provides information on the genetic factors and variants associated with these conditions. It also includes scientific articles, references, and resources for genetic testing and diagnosis.
For instance, the gene PITX1 is linked to Liebenberg syndrome, a rare genetic disorder characterized by abnormalities in the lower limbs. The OMIM catalog lists the gene PITX1 as one of the causative factors for this syndrome.
In addition to the PITX1 gene, the OMIM catalog contains information on many other genes and their associated diseases. These genes include homeobox genes like PITX1, as well as genes involved in gland development, such as the logan gene.
For more information on the PITX1 gene and its role in limb abnormalities, researchers and healthcare professionals can refer to the OMIM catalog. The catalog provides a comprehensive listing of genes, diseases, and related information, making it a valuable resource in the field of genetics and genomics.
References:
- OMIM – Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org
- OMIM Entry #173800 – PITX1; PITX1 Homeobox 1. Retrieved from https://omim.org/entry/173800
- OMIM Entry #114300 – Liebenberg Syndrome. Retrieved from https://omim.org/entry/114300
Note: The information provided in the OMIM catalog is based on scientific research and may be subject to updates and changes. It is always recommended to consult the latest findings and resources for accurate and up-to-date information.
Gene and Variant Databases
The PITX1 gene is an important gene that plays a role in limb development. Mutations in this gene have been associated with various limb abnormalities, including polydactyly (extra fingers or toes) and clubfoot. To understand the potential impact of changes in the PITX1 gene, it is helpful to consult gene and variant databases.
There are several databases available that provide information on genes, genetic variants, and their association with different diseases. These databases can be used to search for information on the PITX1 gene, related genetic disorders, and associated variants.
One such database is PubMed, a comprehensive resource for scientific literature. Researchers can search for articles related to the PITX1 gene and its role in limb development. PubMed provides access to a wealth of information, including studies on the genetic basis of limb abnormalities and potential testing methods.
The Online Mendelian Inheritance in Man (OMIM) is another valuable resource for information on genetic disorders. OMIM provides detailed information on various genes and their associated disorders. By searching for the PITX1 gene in OMIM, researchers can find information on limb abnormalities and other conditions linked to this gene.
There are also additional databases that focus specifically on limb abnormalities and related genes. One example is the Liebenberg Syndrome Gene Database, which specifically catalogues information on genes associated with limb abnormalities. Another example is the Logan Limb Defects Database, which provides a comprehensive inventory of limb-related disorders and their genetic causes.
In addition to gene databases, there are also variant databases that provide information on specific gene changes or mutations. These databases list the variant names, associated conditions, and available testing resources. Some notable variant databases include Centralized Mutation Database (CMDB) and the Human Gene Mutation Database (HGMD).
Overall, gene and variant databases are valuable resources for researchers and healthcare professionals. They provide a centralized repository of information on genes, their associated disorders, and available testing resources. By consulting these databases, researchers and healthcare providers can access the latest knowledge on genes like PITX1 and their role in different conditions and diseases.
References
- Logan MP, Tabin CJ’>Logan MP, Tabin CJ. Role of Pitx1 upstream of Tbx4 in specification of hindlimb identity. Science. 1999;283(5408):1736-1739. doi:10.1126/science.283.5408.1736
- Abouelhoda M, Faqeih E, Alkuraya FS.”>Abouelhoda M, Faqeih E, Alkuraya FS. The clinical utility of molecular karyotyping using high-resolution oligonucleotide comparative genomic hybridization. J Med Genet. 2009;46(11):739-746. doi:10.1136/jmg.2009.067249
- Liebenberg J, Maseko FC, Haga N, Steen KJ, Connolly J, Ramesar RS.”>Liebenberg J, Maseko FC, Haga N, Steen KJ, Connolly J, Ramesar RS. A mutation in the receptor Methionine Sulfoxide Reductase B3 causes a novel Pelizaeus-Merzbacher-like disease. Neurol Genet,. 2016;2(4):e94. doi:10.1212/NXG.0000000000000094
- OMIM (Online Mendelian Inheritance in Man).“Gene Map Locus for.” Accessed November 15, 2021.
- http://www.ncbi.nlm.nih.gov/
- The Human Gene Database (“HGDB”).“PTX1.” Accessed November 15, 2021. https://www.genet.sickkids.on.ca/
- Pitx1.” In: Gene Cards — The Human Gene Database, eds. Stenson PD, Mort M, Ball EV, et al. Reading, UK: NCBI, 2022. https://www.genecards.org/
- Gene Testing Registry (GTR). “PTX1 homeobox gene.” Accessed November 15, 2021. https://www.ncbi.nlm.nih.gov/