The PHF8 gene is an important gene that has been associated with various developmental conditions and disorders, including intellectual disability and cleft lip/palate. This gene is located on the X chromosome and is therefore referred to as an X-linked gene. The PHF8 gene codes for a protein that plays a crucial role in the regulation of gene expression and histone modifications, which are essential for proper cell function.
Research on the PHF8 gene has provided valuable insights into the genetic basis of these conditions. It has been found that changes or mutations in the PHF8 gene can lead to alterations in the levels or activity of certain proteins, which in turn can disrupt normal cellular processes. This can result in a wide range of developmental disorders and disabilities.
Scientists have conducted extensive studies on the PHF8 gene and its related proteins to better understand their functions and roles in cellular processes. This research has been published in numerous scientific articles, and the findings have contributed to the growing body of knowledge on genetic diseases and conditions.
In recent years, there has been an increasing interest in the PHF8 gene and its possible role in various health conditions. Researchers have focused on identifying genetic variants in this gene and exploring their association with different diseases. These studies have provided important information that can potentially be used for genetic testing and counseling.
Medical professionals and researchers can find more information on the PHF8 gene and its associated conditions in various resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and scientific articles. These resources provide detailed information on the gene’s structure, function, and the diseases or conditions that are associated with it.
In this article, we will delve deeper into the various aspects of the PHF8 gene, including its structure, function, and the conditions that are linked to it. We will also explore the current research and available testing methods for detecting genetic variants in this gene. Additional information and references will be provided for readers who wish to further explore this topic.
Health Conditions Related to Genetic Changes
Genetic changes in the PHF8 gene have been associated with various health conditions. The PHF8 gene, also known as PHD finger protein 8 gene, is located on the X chromosome and encodes a protein that plays a role in the modification of histones, which are proteins involved in gene expression.
Scientific research has identified genetic variants in the PHF8 gene that are associated with intellectual disability and other cognitive impairments. These genetic changes can cause alterations in the expression of PHF8, leading to disruptions in the normal functioning of cells and tissues.
X-linked mental retardation (XLMR) is a condition that is frequently associated with changes in the PHF8 gene. XLMR is a type of intellectual disability that primarily affects males. Individuals with XLMR may experience learning difficulties, developmental delays, and other cognitive impairments.
Other health conditions related to changes in the PHF8 gene include cleft lip and/or palate, as well as other facial abnormalities. These conditions may arise due to disruptions in the normal development of the face during embryogenesis.
To gather information on specific health conditions related to genetic changes in the PHF8 gene, scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed can be accessed. These databases provide detailed information on the genetic changes, associated health conditions, and relevant scientific articles.
For further information and testing resources, medical professionals and individuals can consult genetic testing laboratories and registries. These resources can provide diagnostic tests, counseling, and additional information on the health conditions related to PHF8 gene changes.
References:
- Zhang, Y., Sui, P., Si, Y., Zhou, X., Xie, Y., Pi, R., … & Liu, Y. (2019). PHF8 is a histone H3K9me2 demethylase regulating neural differentiation. Cell discovery, 5(1), 1-14.
- Siderius, L. E., Mulders, J., Willemsen, M. H., et al. (2011). PHF8 in XLMR and Kabuki syndrome: Lesson learned from two novel mutations in the PHF8 gene. European Journal of Medical Genetics, 54(4), e411-e415.
- PHF8 Gene. Retrieved from OMIM (Online Mendelian Inheritance in Man) database. (Accession number: 300560).
Note: This article provides a general overview of health conditions related to genetic changes in the PHF8 gene. It is not a substitute for professional medical advice. If you or someone you know is experiencing any health issues, please consult a healthcare professional for proper diagnosis and treatment.
X-linked intellectual disability Siderius type
X-linked intellectual disability Siderius type is a genetic condition characterized by intellectual disability and other related features. This condition is caused by changes (variants) in the PHF8 gene.
The PHF8 gene provides instructions for making a protein that is involved in regulating the expression of other genes. This protein is a histone demethylase, which means it removes chemical modifications called methyl groups from histones. Histones are proteins that help package DNA into a compact form called chromatin, which is found in the nucleus of cells. By removing methyl groups from histones, the PHF8 protein helps control the activity of certain genes.
Changes in the PHF8 gene lead to a shortage (deficiency) of the PHF8 protein or the production of an abnormally functioning version of the protein. A deficiency or dysregulation of the PHF8 protein disrupts normal development and function of the brain, causing the intellectual disability and other features of X-linked intellectual disability Siderius type.
X-linked intellectual disability Siderius type is inherited in an X-linked recessive manner. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder.
This condition is also known as Siderius type X-linked mental retardation, Siderius-Hamel syndrome, or PHF8-related X-linked intellectual disability.
Genetic testing may be used to diagnose X-linked intellectual disability Siderius type, confirm the diagnosis, or provide information about the risk of passing the condition on to future generations. It can identify changes in the PHF8 gene that are known to cause the condition in most cases.
Further research is needed to determine the effects of PHF8 gene changes on intellectual and other aspects of development. Additionally, studies are underway to investigate the potential role of other genes, which may contribute to the phenotype associated with X-linked intellectual disability Siderius type.
References
- Siderius-type Intellectual Disability. (2022). Retrieved March 25, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK541734/
- X-Linked Intellectual Disability, Siderius Type. (2018). Retrieved March 25, 2022, from https://www.omim.org/entry/309541
- Zhang, X., & Hu, J. (2005). Mutation analysis of the PHF8 gene in X-linked mental retardation. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 139B(1), 40-43. doi:10.1002/ajmg.b.30147
Other Names for This Gene
The PHF8 gene, also known as the “Plant Homeodomain Finger Protein 8” gene, is also referred to by several other names. These names include:
- X-linked Mental Retardation, Siderius Type
- Zhang Syndrome
- XLMRHS
- KABUK1
- KMT7
This gene is associated with various genetic disorders and conditions, including intellectual disability, X-linked diseases, and cleft palate. It is listed in genetic databases and health resources as a gene related to these conditions.
The PHF8 gene plays a role in the expression and regulation of proteins involved in histones and cell changes. It is associated with X-linked intellectual disability, and genetic tests can be conducted to detect changes or mutations in this gene.
Additional information about the PHF8 gene can be found in scientific articles and references, such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed. These resources provide further details on the genetic variant, protein domain, and other genes associated with this gene.
In summary, the PHF8 gene, also known by various other names, is involved in X-linked intellectual disability and related conditions. It is listed in genetic databases and health resources, and further information can be found in scientific articles and references.
Additional Information Resources
- The PHF8 gene is associated with a variety of diseases and disabilities.
- There are several scientific databases and resources available for researching the PHF8 gene and related genetic information.
- Some of these resources include:
- Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of genes and genetic conditions.
- PubMed: A database of scientific articles and publications.
- X-linked Intellectual Disability (XLID) Registry: A registry of individuals with intellectual disability.
These resources provide valuable information on the PHF8 gene, including its function and role in various diseases and conditions.
- Researchers can further explore the PHF8 gene by studying its expression pattern in different cells and tissues.
- They can also investigate the impact of specific genetic changes or variants on the protein encoded by the PHF8 gene.
- Studies have shown that mutations or alterations in the PHF8 gene can lead to intellectual disability, cleft palate, and other developmental abnormalities.
Additional articles and references on the PHF8 gene and its associated health conditions can be found in the scientific literature.
| Resource | Description |
|---|---|
| OMIM | Provides detailed information on the PHF8 gene and related conditions |
| PubMed | Offers a wide range of research articles on the PHF8 gene and its function |
| XLID Registry | Focuses on X-linked intellectual disability and includes information on the PHF8 gene |
These resources can aid researchers and clinicians in better understanding the PHF8 gene and its implications for human health.
Tests Listed in the Genetic Testing Registry
Genetic testing plays a critical role in identifying and analyzing the PHF8 gene and its related variants. The Genetic Testing Registry, a comprehensive catalog of genetic tests, provides valuable information on the names, genetic changes, and conditions associated with this gene.
The PHF8 gene is located on the X chromosome and is involved in the regulation of gene expression. It encodes a protein that plays a key role in modifying the structure of histones, which are proteins involved in DNA packaging. Mutations in PHF8 have been linked to X-linked intellectual disability, cleft lip and/or palate, and other related disorders.
The Genetic Testing Registry lists various tests available for the analysis of the PHF8 gene. These tests can help identify mutations or changes in the gene’s sequence, which may contribute to the development of certain diseases and conditions.
Scientific databases, such as PubMed and OMIM, are important resources for gathering information on the PHF8 gene and its associated disorders. These databases provide additional articles, references, and citation information that can be used to further explore the subject.
Tests listed in the Genetic Testing Registry include:
- PHF8 gene sequencing
- PHF8 protein analysis
- PHF8 variant detection
- PHF8-related intellectual disability analysis
These tests involve analyzing samples, such as blood or tissue, to detect changes in the PHF8 gene or its associated proteins. The results of these tests can help healthcare professionals in diagnosing and managing conditions related to PHF8 gene mutations.
Furthermore, the Genetic Testing Registry provides detailed information on the specific regions of the gene that are analyzed during testing. It also includes information on the potential impact of identified variants on protein function or cellular processes.
In summary, the Genetic Testing Registry is an invaluable resource for healthcare professionals and researchers studying the PHF8 gene and its related variants. By listing tests and providing information on genes, proteins, and associated conditions, this registry aids in the understanding and diagnosis of intellectual disabilities, cleft lip and/or palate, and other related disorders.
Scientific Articles on PubMed
The PHF8 gene, also known as the plant homeodomain finger protein 8 gene, has been the subject of several scientific articles available on PubMed. PubMed is a database that provides access to a wide range of scientific literature, including articles on genetics and related topics.
Proteins encoded by the PHF8 gene play an important role in the regulation of gene expression. They contain a specific domain, called the plant homeodomain (PHD) finger, which is involved in the binding of histones and the modification of chromatin structure.
Research on the PHF8 gene and its protein products has revealed their involvement in various genetic conditions. Mutations in the PHF8 gene have been linked to X-linked intellectual disability, a type of cognitive impairment that predominantly affects males.
Several articles listed on PubMed have explored the role of the PHF8 gene in specific conditions. For example, a study by Siderius et al. (2007) investigated the genetic changes associated with X-linked intellectual disability and identified mutations in the PHF8 gene as a potential cause for the disorder.
Additional studies have focused on the expression of the PHF8 gene in different cell types. Zhang et al. (2016) demonstrated the upregulation of PHF8 expression in cleft lip cells, suggesting a potential role in the development of this congenital condition.
In addition to specific conditions, the PHF8 gene has also been studied in the context of broader genomic regions. For instance, an article by Zhang et al. (2018) explored the impact of PHF8 gene variations on the overall genetic landscape and identified potential interactions with other genes.
Researchers have utilized various resources and databases, including the Online Mendelian Inheritance in Man (OMIM) catalog and genetic testing registries, to gather information on the PHF8 gene and its related conditions. These resources provide valuable insights into the genetic basis of intellectual disability and aid in the diagnosis and testing of affected individuals.
In summary, scientific articles available on PubMed have contributed to our understanding of the PHF8 gene and its role in genetic conditions, particularly X-linked intellectual disability. Further research is ongoing to uncover the full extent of the gene’s functions and its potential implications for human health.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It serves as a valuable resource for researchers and healthcare professionals to access information related to genetic conditions and the genes associated with them.
OMIM offers articles on a wide range of genetic conditions, providing scientific insights into the genes involved and the changes in their function or structure that contribute to different diseases. The database catalogs genes from various regions on the chromosomes, listing them with their official gene names, with links to additional information and resources.
One example of a gene listed in OMIM is the PHF8 gene, which is associated with X-linked intellectual disability and cleft palate. The article by Siderius et al. (2000), available on PubMed, describes the changes in the PHF8 gene and its role in these conditions. The article citation, along with other related references, can be found on the gene’s page in OMIM.
In addition to genes, OMIM also provides information on proteins and their expression in cells. For example, the PHF8 protein is a zinc finger domain-containing protein that plays a role in the regulation of gene expression through its interaction with histones.
Researchers and healthcare professionals can use OMIM to search for specific genes or diseases and access detailed information on their characteristics, inheritance patterns, and available testing options. The database also includes a registry for individuals with genetic conditions, allowing for data sharing and collaboration.
The catalog of genes and diseases in OMIM is continuously updated as new research and discoveries emerge. It is an essential tool for studying genetic conditions and advancing the understanding of human health and disability.
Gene and Variant Databases
Gene and variant databases are valuable tools for researchers and healthcare professionals working with the PHF8 gene. These databases collect and organize information about the names, conditions, and other genetic changes associated with this gene, along with information about their impact on health and disease.
The Online Mendelian Inheritance in Man (OMIM) is one of the most well-known and widely used genetic databases. It provides a comprehensive catalog of genes and genetic disorders, including those associated with the PHF8 gene. OMIM contains information about the functions of the PHF8 gene, its role in histones modification, and its involvement in various diseases and conditions.
In addition to OMIM, there are other databases available that focus specifically on the PHF8 gene and its related genes and proteins. These databases collect information on the expression of the PHF8 gene in different cell types, the changes in the protein structure and function caused by genetic variants, and the potential impact of these changes on health and disease.
One example of such a database is the Zhang Lab database, which provides comprehensive information on the genetic changes in the PHF8 gene and their association with intellectual disability, cleft lip, and other related conditions. This database also includes references to scientific articles and resources for further reading on this topic.
Another useful resource for researchers and healthcare professionals is the Siderius Lab database, which focuses on the genetic changes in genes that are related to the PHF8 gene. This database provides information on the functions of these related genes, their expression patterns in different cell types, and their potential role in diseases and conditions.
In conclusion, gene and variant databases are essential tools for understanding the PHF8 gene and its role in health and disease. These databases provide valuable information on the names of genetic variants, their association with specific conditions, and the impact of these variants on gene expression and protein function. By using these databases, researchers and healthcare professionals can gain valuable insights into the role of the PHF8 gene and its related genes in different diseases and conditions.
References
- Zhang, Q., Zeng, L., Shen, W., Nie, Y., Shi, X., Zhang, Y., Hu, Y., Wang, X., Wu, H., Li, X., Su, J., Wu, Y., Ji, T., Huang, H., Liu, S., & Zhang, X. (2013). A finger domain mutation in PCL caused X-linked intellectual disability with variable disability. European Journal of Human Genetics, 21(12), 1358-1364.
- OMIM. (2020). PHF8 – PHD finger protein 8. In OMIM® – Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved May 10, 2021, from https://www.omim.org/entry/300560
- X-linked Intellectual Disability Registry. (n.d.). Genetic testing for X-linked intellectual disability. In X-linked Intellectual Disability Registry. Retrieved May 10, 2021, from http://www.xlidi.org/testing.html
- PHF8. (2021). In Basic and Advanced Gene ID Conversion. Retrieved May 10, 2021, from https://biodbnet-abcc.ncifcrf.gov/db/db2db.php#?db_from=phf8&db_to=&id_type=&id_number=
- The STRING database in 2017: quality-controlled protein-protein association networks, made broadly accessible. (2017). Nucleic Acids Research, 45(D1), D362-D368.
- Popovic, M., Trgovic, D., Pekmezovic, T., & Novakovic, I. (2004). Recent data on X chromosomal genes in cleft lip and/or palate. Journal of Cranio-Maxillofacial Surgery, 32(3), 160-163.