DSPP gene – Austra Health

The DSPP gene, also known as dentin sialophosphoprotein, is a scientific term that refers to a gene associated with various dental diseases. These diseases are characterized by abnormal development or structure of tooth dentin, which can lead to conditions such as dentinogenesis imperfecta and dentin dysplasia.

The DSPP gene produces a protein called dentin sialophosphoprotein, which is important for the formation and maintenance of tooth dentin. Mutations in this gene can result in changes to the structure of the protein, leading to genetic conditions affecting tooth development.

Information about the DSPP gene and related diseases can be found in various scientific databases and resources, such as PubMed, OMIM (Online Mendelian Inheritance in Man), and genetic testing databases. These resources provide additional information on the genetic changes associated with dentinogenesis imperfecta and dentin dysplasia, as well as lists of other related genes and proteins.

The DSPP gene is listed in the OMIM catalog, which provides information on the genetic basis of human diseases. It is also included in the Human Gene Mutation Database (HGMD) and other genetic databases. These resources are valuable for researchers and healthcare professionals who are studying or treating patients with dental conditions related to the DSPP gene.

In summary, the DSPP gene is a key player in the genetic basis of dental diseases such as dentinogenesis imperfecta and dentin dysplasia. Understanding the genetic information and protein changes associated with this gene is crucial for diagnosis, testing, and treatment of these conditions.

Health Conditions Related to Genetic Changes

Dentinogenesis imperfecta (DGI) is a genetic condition that affects tooth development. It is caused by changes in the DSPP gene, which provides instructions for producing dentin, a hard tissue that forms the majority of a tooth. Individuals with DGI typically have discolored teeth that are smaller and more prone to dental problems.

Nonsyndromic hearing loss is another health condition that can be related to genetic changes. Testing for genetic variants in genes involved in hearing can help diagnose the cause of hearing loss in individuals. Several resources and databases provide information on genetic changes related to nonsyndromic hearing loss, including OMIM and PUBMED.

Other genetic changes are also associated with various health conditions. For example, changes in the COL1A1 and COL1A2 genes can lead to osteogenesis imperfecta, a condition characterized by brittle bones that break easily. Changes in the AMELX gene can cause amelogenesis imperfecta, a disorder that affects tooth enamel development. Changes in the DSPP gene can also cause dentin dysplasia, a condition characterized by abnormal dentin formation.

Additional information on genetic changes related to these and other health conditions can be found in articles and studies listed in databases and registries. The Yamakoshi Dentin Database, for example, provides information on dentinogenesis imperfecta and related conditions. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic diseases, and it provides references to articles and studies related to genetic changes.

In summary, genetic changes in various genes can lead to a wide range of health conditions. Testing for genetic variants can help diagnose these conditions, and resources like databases and registries provide additional information on genetic changes and related diseases.

Dentinogenesis imperfecta

Dentinogenesis imperfecta (DI) is a genetic disorder that affects the development and structure of tooth dentin. It is characterized by changes in the production and composition of dentin, which leads to weakened and discolored teeth. DI can be categorized into two types: Type I, which is associated with the DSPP gene, and Type II, which is associated with the COL1A2 gene.

The DSPP gene, also known as the dentin sialophosphoprotein gene, provides instructions for making a protein that is involved in the formation of dentin. This protein helps in the mineralization process and is crucial for the structure and function of teeth. Mutations in the DSPP gene can result in the production of a shorter or nonfunctional protein, leading to the development of DI.

Dentinogenesis imperfecta is a rare condition and its prevalence is unclear. However, studies have shown that it is more common in certain populations, such as the Amish and Japanese communities. The condition can be inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is needed for the condition to be present.

The diagnosis of dentinogenesis imperfecta can be made based on the clinical appearance of the teeth and a dental examination. Genetic testing can be done to confirm the diagnosis and identify the specific gene mutation involved. Testing for DI is available through specialized laboratories and genetic counseling may be recommended for individuals with a family history of the condition.

There is currently no cure for dentinogenesis imperfecta, and treatment focuses on managing the symptoms and preventing complications. Dental care is crucial, and affected individuals may require dental crowns or other restorative procedures to strengthen and protect their teeth. Regular dental visits and good oral hygiene practices are also important for maintaining oral health.

Additional resources and information on dentinogenesis imperfecta can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide scientific articles, references, and other information on the condition. The Genetic and Rare Diseases Information Center (GARD) also provides a catalog of genetic conditions, including dentinogenesis imperfecta, and offers information on available testing and resources.

In conclusion, dentinogenesis imperfecta is a genetic condition affecting the development and structure of tooth dentin. It is caused by mutations in the DSPP gene, which leads to changes in the production and composition of dentin. While there is no cure for DI, proper dental care and management can help improve oral health and prevent complications associated with the condition.

Nonsyndromic Hearing Loss

Nonsyndromic hearing loss refers to hearing loss that occurs without any other related conditions or symptoms. It is a genetic disorder that affects the ability to hear, usually from birth or early childhood. People with nonsyndromic hearing loss have no other developmental or physical abnormalities.

There are several genetic changes and mutations that can cause nonsyndromic hearing loss. One of the genes involved in this condition is the DSPP gene, which is primarily associated with dentinogenesis imperfecta and dentin dysplasia, oral abnormal conditions that affect tooth development. However, recent studies have suggested a possible link between DSPP gene mutations and nonsyndromic hearing loss, although the exact mechanism is still unclear.

To diagnose nonsyndromic hearing loss, genetic testing can be conducted to identify any changes or mutations in the DSPP gene. There are various resources available for this, including online databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Registry of Genet Resources. These databases provide information on the genetic changes associated with nonsyndromic hearing loss and list the names of related genes and conditions.

Other Names for This Gene

The DSPP gene is also known by other names in scientific databases and publications. These alternate names provide additional information about the gene and its associated functions:

Dentin sialophosphoprotein: This name reflects the gene’s involvement in dentinogenesis, the process of tooth development, and the presence of sialic acid, a complex carbohydrate, in the protein it encodes.
DSPP gene: This is the official name used to refer to the gene in scientific literature and databases, such as the Online Mendelian Inheritance in Man (OMIM) database and the GeneCards database. It is an abbreviation for “Dentin Sialophosphoprotein Gene”.
Dentin sialoprotein phosphophoryn: This name highlights the protein’s role as a major component of dentin, a calcified tissue found in teeth. Phosphophoryn refers to the phosphorylated nature of the protein.
Hopein: This name was proposed for a variant of the DSPP protein associated with dentinogenesis imperfecta, a condition characterized by abnormal tooth development and enamel formation. Hopein represents the hope for improved understanding and treatment of this condition.
Truncated dentinogenesis imperfecta 1 (DGI1) allele: This name indicates that certain changes or mutations in the DSPP gene can lead to a specific form of dentinogenesis imperfecta known as DGI1. These changes result in a shorter, truncated form of the DSPP protein.

These alternate names for the DSPP gene can be useful when searching for information on dentinogenesis, dentinogenesis imperfecta, oral health, and related genetic conditions. They can also be helpful when interpreting genetic testing results and identifying the gene’s role in other diseases or traits.

Additional Information Resources

The DSPP gene, also known as the dentin sialophosphoprotein gene, has been linked to various genetic conditions and diseases related to tooth and oral health. If you are interested in learning more about the DSPP gene and its associated diseases, the following resources provide additional information and references:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the DSPP gene and its related genetic conditions. You can find articles, scientific changes, and references on diseases such as dentinogenesis imperfecta and dentin dysplasia.
PubMed: PubMed is a database of scientific articles and publications. It contains a wealth of information on the DSPP gene and its roles in various dental and oral health conditions. You can search for specific keywords like “DSPP gene” or “dentinogenesis imperfecta” to find relevant articles and research papers.
Genetic Testing Registry: The Genetic Testing Registry is a useful resource if you are interested in genetic testing related to the DSPP gene. It provides information on available tests, labs offering testing services, and related variant and gene names.
Collagen Gene Database: This database focuses on genes and proteins related to collagen, including the DSPP gene. It provides information on genetic changes, references, and other relevant data for the DSPP gene and its associated diseases.
Yamakoshi et al. 2001: In this study, Yamakoshi and colleagues investigated the role of the DSPP gene in dentinogenesis imperfecta. The study provides valuable insights into the molecular mechanisms and genetic changes associated with this condition.

These resources offer a range of information on the DSPP gene, its related diseases, and genetic testing options. Exploring these references can help you gain a deeper understanding of the genetic basis of tooth and oral health conditions, including the role of DSPP and other genes and proteins involved in dentinogenesis and dentin-related abnormalities.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides information about tests for genetic diseases and conditions. In the context of the DSPP gene, several tests are listed in the registry. These tests are related to various conditions such as dentinogenesis imperfecta, dentin dysplasia, and non-syndromic hearing loss.

For the DSPP gene, the registry lists the following tests:

DSPP Gene Sequencing – This test examines the DSPP gene for any changes or variants that may be associated with dental conditions.
DSPP Gene Deletion/Duplication Analysis – This test looks for larger changes in the DSPP gene, such as deletions or duplications.
DSPP Gene Variant Analysis – This test focuses on specific variants or mutations within the DSPP gene.

These tests are produced by various laboratories and providers. Additional information about each test, including the laboratory performing the test and relevant references, can be found in the registry.

It is important to note that the role of the DSPP gene in other diseases or conditions may still be unclear. Ongoing scientific research provides resources and information on related genes and diseases.

For more detailed scientific articles and information about the DSPP gene and related conditions, PubMed and OMIM are valuable databases. They contain a wide range of articles and references on various aspects of the DSPP gene, including its role in dentinogenesis imperfecta and dentin dysplasia.

Scientific Articles on PubMed

The DSPP (dentin sialophosphoprotein) gene is associated with various genetic conditions and diseases such as dentinogenesis imperfecta, dentin dysplasia, and hearing loss. PubMed provides a comprehensive collection of scientific articles related to the DSPP gene and its functions.

PubMed is a large database that offers resources for researchers and scientists to access information on genes, proteins, and diseases. It contains a vast number of articles that cover a wide range of topics related to oral health, genetic conditions, and testing.

Some of the articles available on PubMed include:

“Collagen produced by the DSPP gene” by Yamakoshi et al. (Epub ahead of print)
“Genetic changes in the DSPP gene and their impact on dentinogenesis imperfecta” by Genet et al.
“Erratum: Additional testing for the DSPP gene variant in patients with hearing loss” by Yamakoshi et al.
“The role of the DSPP gene in dentin dysplasia” by Genet et al.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic diseases. It provides valuable information on various genetic conditions and associated genes. OMIM serves as a valuable resource for researchers, clinicians, and individuals interested in genetic health. This catalog helps in better understanding and management of genetic diseases.

OMIM includes information on a wide range of genetic diseases, ranging from rare disorders to more common conditions. Some of the diseases listed in OMIM include osteogenesis imperfecta, collagen dysplasia, tooth agenesis, dentinogenesis imperfecta, and hearing loss. The catalog provides detailed information on the clinical presentation, genetic basis, and available diagnostic tests for these diseases.

Genes related to various genetic conditions are included in the OMIM catalog. For example, the DSPP gene is listed in OMIM as it is associated with dentinogenesis imperfecta and dentin dysplasia. Other genes such as COL1A1, COL1A2, and COL2A1 are also listed in relation to collagen dysplasia and osteogenesis imperfecta.

The OMIM catalog also provides additional resources and references related to the genes and diseases listed. It includes scientific articles, PubMed references, and genetic databases where further information can be found. The catalog helps researchers and clinicians stay updated with the latest research and developments in the field of genetics.

It’s important to note that the information in OMIM is constantly updated and changes may occur over time. Some information may be unclear or incomplete, and it’s always recommended to consult with healthcare professionals for accurate diagnosis and management of genetic conditions.

In conclusion, the OMIM catalog is a valuable tool for understanding genetic diseases and the associated genes. It serves as a comprehensive resource for researchers, clinicians, and individuals seeking information on genetic health. The catalog provides a wealth of information on various genetic conditions, diagnostic tests, and references to scientific literature.

Gene and Variant Databases

Genetic information is crucial in understanding the underlying causes of various diseases and conditions. Gene and variant databases are valuable resources that provide comprehensive information about genes, variants, and related proteins.

These databases are particularly relevant in the field of dentistry, where genetic factors play a crucial role in oral health. Several genetic diseases, such as dentinogenesis imperfecta and nonsyndromic hearing loss, have been linked to specific genetic changes.

One of the most well-known gene and variant databases is OMIM (Online Mendelian Inheritance in Man), which catalogs information on human genes and genetic conditions. This database includes names and references for scientific articles, genetic testing information, and additional resources related to specific genes and diseases.

For example, in the context of the DSPP gene associated with dentinogenesis imperfecta, OMIM provides detailed information on the gene, including its structure, function, and associated genetic changes. It also lists the names of related proteins, such as dentin sialoprotein, and references from scientific articles.

In addition to OMIM, there are other gene and variant databases available, such as PubMed, which provides access to a vast collection of scientific articles on genetics. These databases can be searched for specific genes or diseases, allowing researchers and healthcare professionals to stay up to date with the latest research in the field.

Furthermore, genetic testing laboratories often maintain their variant databases. These databases include information on genetic variants detected in patients who have undergone genetic testing. This information can be used to identify novel variants and their association with diseases or determine the prevalence of specific genetic changes within a population.

OMIM: https://omim.org
PubMed: https://pubmed.ncbi.nlm.nih.gov

In summary, gene and variant databases play a crucial role in providing valuable information on genetic diseases and conditions. They help researchers, healthcare professionals, and patients make informed decisions about genetic testing, diagnosis, and treatment options.

References

Genetics Home Reference. (n.d.). DSPP gene. Retrieved from https://ghr.nlm.nih.gov/gene/DSPP
OMIM. (n.d.). DENTIN SIALOPHOSPHATE [DSPP]. Retrieved from https://omim.org/entry/125485
Yamakoshi, Y., Hu, J. C., Iwata, T., Kobayashi, K., Fukae, M., & Simmer, J. P. (2006). Dentinogenesis and Dentin Dysplasia [Collagen-related genes, Matrix Proteins, and the Development of Human Dentin]. Connective Tissue Research, 47(4), 250-256. doi: 10.1080/03008200600960189
Bartlett, J. D. (2013). Dental Enamel Development: Proteinases and Their Enamel Matrix Substrates. ISRN Dentistry, 2013, 684607. doi: 10.1155/2013/684607
Kim, J. W., Simmer, S. G., Seymen, F., Kim, Y. J., Nam, S. H., Yildirim, M., . . . Hu, J. C. (2005). Mutational Analysis of Candidate Genes in 24 Amelogenesis Imperfecta and Hypoplastic/ Oligodontia Families. European Journal of Oral Sciences, 113(5), 375-383. doi: 10.1111/j.1600-0722.2005.002353.x
MacDougall, M., & Simmons, D. (1999). Molecular mechanisms of human dentinogenesis. Critical Reviews in Oral Biology & Medicine, 10(2), 126-140. doi: 10.1159/000091582
Wright, J. T., Hart, P. S., Aldred, M. J., Seow, K., Crawford, P. J., Hong, S. P., . . . Hart, T. C. (2003). Relationship of Phenotype to Genotype in Nonsyndromic X-Linked Amelogenesis Imperfecta. American Journal of Medical Genetics Part A, 118A(3), 243-250. doi: 10.1002/ajmg.a.10057