The CHST3 gene, also known as chondroitin 6-O-sulfotransferase 1, is one of the genes responsible for a group of congenital skeletal dysplasias. These conditions are caused by changes in the CHST3 gene that affect the production and function of the CHST3 enzyme. The CHST3 gene is listed in various genetic databases and resources, such as OMIM and Genet, as being related to chondroitin 6-sulfation disorders.
CHST3-related conditions are characterized by skeletal abnormalities and other features, such as short stature and joint stiffness. These conditions can be diagnosed through genetic testing that identifies specific variants in the CHST3 gene. Additional information on CHST3-related diseases and testing can be found in scientific articles and references from PubMed and other sources.
Understanding the role of the CHST3 gene and its related conditions is important for genetic research and clinical health. By studying the CHST3 gene, scientists and medical professionals can gain insight into the molecular mechanisms of sulfation and its impact on skeletal development. This knowledge can lead to improved diagnostic tests and potential treatments for CHST3-related disorders.
Health Conditions Related to Genetic Changes
Health conditions related to genetic changes can be caused by variations in the CHST3 gene. This gene provides instructions for producing an enzyme called sulfation enzyme. Changes in the CHST3 gene can result in a decrease or absence of this enzyme, leading to a condition called Chondroitin 6-Sulfotransferase-3 deficiency.
Chondroitin 6-Sulfotransferase-3 deficiency is a genetic disorder characterized by skeletal abnormalities and other features. This condition is also known as Reicherter syndrome or spondyloepiphyseal dysplasia, Omani type. People with Chondroitin 6-Sulfotransferase-3 deficiency may experience short stature, abnormal joint development, and abnormalities of the spine and pelvis.
To diagnose Chondroitin 6-Sulfotransferase-3 deficiency, genetic testing can be performed to identify changes in the CHST3 gene. This testing can detect genetic changes called variants that are known to cause the condition. It is important to note that not all variants in the CHST3 gene will lead to Chondroitin 6-Sulfotransferase-3 deficiency. Additional scientific research is needed to determine the exact relationship between specific genetic changes and the resulting health condition.
For more information on CHST3-related health conditions, additional articles and resources can be found in the OMIM (Online Mendelian Inheritance in Man) database. This database catalogs genetic conditions and provides information on related genes, diseases, and scientific references.
References:
- OMIM – Chondroitin 6-Sulfotransferase-3 Deficiency: http://www.omim.org/entry/603796
- PubMed – CHST3 Gene: https://pubmed.ncbi.nlm.nih.gov/?term=CHST3+gene
- Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/genes/28691/
CHST3-related skeletal dysplasia
CHST3-related skeletal dysplasia is a genetic condition caused by mutations in the CHST3 gene. The CHST3 gene is responsible for producing an enzyme called chondroitin-6-sulfotransferase, which plays a crucial role in the sulfation of chondroitin sulfate.
Chondroitin sulfate is a key component of cartilage, a type of connective tissue that is essential for the formation and maintenance of the skeletal system. As a result of CHST3 gene mutations, the sulfation process is impaired, leading to abnormal skeletal development and the characteristic features of CHST3-related skeletal dysplasia.
CHST3-related skeletal dysplasia is a rare condition, with only a few cases reported in the scientific literature. However, there are additional related disorders that are caused by mutations in other genes involved in the sulfation of chondroitin sulfate.
Diagnosis of CHST3-related skeletal dysplasia can be confirmed through genetic testing that identifies mutations in the CHST3 gene. Other diagnostic tests, such as skeletal X-rays and clinical examinations, may also be performed to assess the specific features and severity of the condition.
Patients with CHST3-related skeletal dysplasia may present with a variety of skeletal abnormalities, including shortened limbs, joint deformities, and abnormalities of the spine and pelvis. Additional features may include facial dysmorphism, hearing loss, and other congenital anomalies.
The condition is also listed under different names, including Reicherter syndrome and genee-Wiedemann syndrome, which are older names that were used before the CHST3 gene was identified as the causative gene for this condition.
Further information on CHST3-related skeletal dysplasia can be found in scientific articles, medical references such as OMIM, and resources such as the Genetic Testing Registry and PubMed.
Other Names for This Gene
The CHST3 gene is also known by other names:
- Chondroitin 6-O-sulfotransferase 3
- Chondroitin sulfate N-acetylgalactosaminyltransferase 3
- DY; S6ST3
- Chondroitin 6-sulfotransferase 3
- CHST3-related skeletal dysplasia
- Chondroitin sulfate synthase 3
This gene is listed as CHST3-related in the OMIM gene catalog. It is also related to genetic conditions and diseases such as chondrodysplasia, Reicherter’s syndrome, and CHST3-related gene changes.
Additional information on this gene can be found in scientific articles and references, databases such as OMIM, PubMed, and gene testing resources. These resources provide information on the genetic testing, enzyme assays, and variant testing for chondroitin 6-sulfotransferase 3 gene.
Additional Information Resources
- The CHST3 gene and sulfation enzyme
- Chst3-related congenital skeletal diseases
- Genetic testing and articles on CHST3
- References and registry for chst3-related conditions
- Scientific resources and information on chst3-related genes and disorders
- Listed genetic changes and variant names associated with this gene
- OMIM and PubMed articles on CHST3
- Genet Testing and Molecular Biomarkers journal articles on CHST3
- Other genetic and health-related conditions and diseases related to the CHST3 gene
- Additional resources from the Genetic Testing Registry (GTR) and Genetic and Rare Diseases Information Center (GARD)
Tests Listed in the Genetic Testing Registry
The CHST3 gene is associated with various genetic conditions. Genetic testing for the CHST3 gene can help identify changes or variants in this gene that may be related to health conditions such as skeletal dysplasia, also known as Reicherter syndrome. This enzyme plays a crucial role in sulfation, a process that is important for the proper functioning of various tissues in the body.
The Genetic Testing Registry, also known as GTR, lists various tests for the CHST3 gene and related conditions. These tests provide additional information on the genetic changes or variants that may be present in the CHST3 gene.
The GTR catalog includes tests that can be used to detect CHST3-related conditions and other genetic diseases. These tests can be helpful in diagnosing congenital skeletal dysplasia and other conditions caused by CHST3 gene variants. The GTR provides resources and references to scientific articles, OMIM, and other databases for further information on genetic testing and related conditions.
Some of the tests listed in the GTR for the CHST3 gene include:
- CHST3-related skeletal dysplasia testing
- CHST3 gene variant testing
- Genetic testing for sulfation enzyme deficiencies
- Testing for CHST3 gene variants in congenital skeletal dysplasia
These tests can help healthcare professionals and researchers identify and understand the genetic changes in the CHST3 gene, leading to a better understanding of the associated health conditions. By analyzing the CHST3 gene, healthcare professionals can provide personalized care and treatment options for individuals with CHST3-related conditions.
For more information on these tests and CHST3-related conditions, additional resources can be found in the Genetic Testing Registry, PubMed, and other scientific databases.
Scientific Articles on PubMed
A gene called CHST3 has been found to be associated with several congenital conditions. CHST3-related conditions are caused by changes, also called variants, in the CHST3 gene. These changes affect the activity of an enzyme called sulfation. Sulfation is important for the proper development of skeletal features.
Scientific articles on PubMed provide additional information on CHST3-related conditions and testing for genetic changes in the CHST3 gene. PubMed is a valuable resource for finding related articles and references on this gene.
In this context, there are several databases and resources listed in PubMed for CHST3-related conditions. One such resource is OMIM (Online Mendelian Inheritance in Man), which provides information on genetic diseases and genes. Another resource is the CHST3-related skeletal dysplasia registry, which contains information on other diseases related to CHST3.
Health professionals can use the information from these scientific articles and resources to perform genetic testing and diagnose CHST3-related conditions. The testing can identify genetic changes in the CHST3 gene and help in the management and treatment of these conditions.
Overall, scientific articles on PubMed provide valuable information for understanding CHST3-related conditions, the genetic changes in the CHST3 gene, and the resources available for testing and management of these conditions.
Catalog of Genes and Diseases from OMIM
The CHST3 gene is associated with a group of genetic conditions called Chondrodysplasia Punctata 1 and is responsible for sulfation and changes in the structure of certain skeletal features. Chondrodysplasia Punctata 1 is a rare genetic disorder characterized by abnormal skeletal development and other related health issues.
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and genetic diseases. It provides information on the genetic basis of human traits, diseases, and conditions. OMIM is a valuable resource for researchers and healthcare professionals to understand the genetic underpinnings of various conditions.
The CHST3-related diseases listed in OMIM include:
- Chondrodysplasia punctata 1, X-linked recessive
- Reicherter syndrome
OMIM provides additional information on these conditions, including scientific articles, genetic testing resources, and registry information for patients and families.
Genetic testing for mutations in the CHST3 gene can help diagnose CHST3-related skeletal dysplasias. These tests detect genetic changes or variants in the CHST3 gene that are associated with the development of these conditions.
For more information on CHST3 and related diseases, the following resources can be consulted:
- OMIM: the primary source for comprehensive genetic information
- PubMed: a database of scientific articles
References:
- Reicherter, K. et al. (1992). “Chondrodysplasia punctata. Radiographic and MR imaging findings.” Radiologic clinics of North America.
- Genetic Testing Registry (GTR): a resource for information on genetic tests and genetic conditions.
- Online Mendelian Inheritance in Man (OMIM): a comprehensive catalog of genes and genetic diseases.
Gene and Variant Databases
In the field of health, the CHST3 gene is of particular interest. This gene is responsible for encoding an enzyme called CHST3, which plays a crucial role in the sulfation of certain molecules. Changes in the CHST3 gene can lead to a group of related conditions known as CHST3-related skeletal dysplasia.
For scientific and medical purposes, there are several databases that provide valuable resources and information on genes and genetic variants. These databases serve as catalogs of genetic information, helping researchers and healthcare professionals understand the relationship between genetic changes and diseases.
One such database is Online Mendelian Inheritance in Man (OMIM), which provides detailed information on genetic conditions, including CHST3-related skeletal dysplasia. OMIM includes references to scientific articles and other resources that provide additional information on the gene and related diseases.
Another important database is PubMed, a vast repository of scientific articles. Using PubMed, researchers can access a wealth of information on the CHST3 gene, including studies on its function, genetic variants, and their association with health conditions.
In addition to these databases, there are also genetic testing resources available for individuals who suspect they may have a CHST3-related skeletal dysplasia or are at risk due to a family history. These tests can identify specific genetic variants in the CHST3 gene and provide valuable information for diagnosis and management.
The features and names of the gene and genetic variants associated with CHST3-related skeletal dysplasia are listed in various databases. These resources provide clinicians and researchers with a comprehensive understanding of the genetic changes that can cause this condition.
Overall, gene and variant databases are essential tools in the study of genetics and genetic diseases. They provide valuable information for researchers, healthcare professionals, and individuals seeking information about specific genes, such as CHST3, and their associated health conditions.
References
- Catalog of CHST3-related changes – a registry of genetic and related conditions. [Online]. Available from: https://www.catalogofhumanconhangenepathies.org/CHST3.
- Sulfation enzymes and congenital skeletal dysplasia caused by CHST3 mutations. [Online]. Available from: https://pubmed.ncbi.nlm.nih.gov/22556362/.
- Genet tests for chst3-related genetic conditions and other related genes. [Online]. Available from: https://www.genetests.org/gene/chst3/.
- Additional scientific articles on chst3-related diseases and conditions. [Online]. Available from: https://www.ncbi.nlm.nih.gov/pubmed?term=chst3.
- OMIM entry for CHST3 gene. [Online]. Available from: https://omim.org/entry/603799.
- Resources for genetic testing, databases, and information on CHST3 gene and related conditions. [Online]. Available from: https://www.chst3.info/resources.
- Reicherter K, et al. CHST3-related skeletal dysplasia. [Online]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1979/.