The COL1A2 gene is a gene that encodes for the type I collagen alpha 2 chain. It is responsible for the assembly of collagen, a protein found in connective tissues. Changes in this gene can result in various conditions, including osteogenesis imperfecta and Ehlers-Danlos syndrome.
Scientific research on the COL1A2 gene has been conducted to understand the genetic causes of these disorders. Many articles and references on COL1A2 can be found in scientific databases, such as PubMed and OMIM. These resources provide valuable information on the gene and its associated diseases.
In addition to osteogenesis imperfecta and Ehlers-Danlos syndrome, rare syndromes have also been associated with variants in the COL1A2 gene. These gene changes can lead to problems with collagen assembly and are characterized by various health problems.
Testing for genetic disorders related to the COL1A2 gene can be done through various methods, including genetic testing and registry resources. Testing can help identify individuals with these disorders and provide additional information for management and treatment.
Overall, the COL1A2 gene plays a crucial role in the formation of collagen, and changes or variants in this gene can lead to a range of disorders. Understanding the gene and its associated conditions is important in the field of genetics and can help improve health outcomes for affected individuals.
Health Conditions Related to Genetic Changes
Genetic changes in the COL1A2 gene can result in various health conditions. These conditions are listed below, along with other tests and resources that provide more information on the genetic changes related to this gene:
Osteogenesis Imperfecta
Osteogenesis Imperfecta, also known as brittle bone disease, is a group of genetic disorders primarily caused by mutations in the COL1A2 gene. It is characterized by fragile bones that break easily. Some forms of Osteogenesis Imperfecta are caused by changes in other collagen-related genes as well.
References: PubMed, OMIM
Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome is a group of genetic disorders characterized by abnormalities in collagen, including that produced by the COL1A2 gene. There are various types of Ehlers-Danlos Syndrome, each caused by changes in different genes involved in collagen production and assembly.
References: PubMed, Ehlers-Danlos Society
Other Health Conditions
In addition to Osteogenesis Imperfecta and Ehlers-Danlos Syndrome, genetic changes in the COL1A2 gene have been associated with other rare health conditions. These include Alport Syndrome, some types of Stickler Syndrome, and Zschocke syndrome.
Testing and Resources
If you suspect a genetic change in the COL1A2 gene or want to learn more about these health conditions, genetic testing and resources are available. Some of the testing and resources include:
- Genetic Testing: Genetic testing can be conducted to identify changes in the COL1A2 gene. This can help in diagnosing and managing the associated health conditions.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic changes, associated health conditions, and related genes.
- PubMed: PubMed is a scientific database that contains articles and research papers on genetic changes, disorders, and their links to the COL1A2 gene.
- Collagen Registry: The Collagen Gene Variant Database is a resource that catalogues genetic changes in collagen-related genes, including COL1A2.
These resources can provide valuable information for healthcare professionals, researchers, and individuals affected by genetic changes in the COL1A2 gene.
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome (EDS) refers to a group of genetic disorders that affect the connective tissues, primarily collagen. Collagen is a protein that provides strength and elasticity to various tissues in the body. EDS is characterized by a defect in collagen production or structure, leading to a range of symptoms and abnormalities.
There are different types of EDS, each caused by mutations in different genes. The most common types include:
- Ehlers-Danlos syndrome, hypermobility type (EDS-HT)
- Ehlers-Danlos syndrome, classical type (EDS-CT)
- Ehlers-Danlos syndrome, vascular type (EDS-VT)
Each of these types has distinct clinical features, inheritance patterns, and associated health problems.
The EDS genes, such as the COL1A2 gene, encode for collagen chains involved in the assembly of collagen molecules. Abnormal changes in these genes can result in the production of abnormal collagen, leading to the development of EDS.
Diagnosis of EDS is often challenging due to its rarity and the overlapping symptoms with other conditions. Genetic testing can help identify mutations in the relevant genes, providing additional information for diagnosis. Resources like the Online Mendelian Inheritance in Man (OMIM) database, scientific articles from PubMed, and gene databases offer valuable scientific information related to EDS and its subtypes.
Management of EDS focuses on addressing the specific symptoms and complications associated with the syndrome. This may include physical therapy, pain management, surgical interventions, and lifestyle adjustments.
Additionally, individuals with EDS may benefit from joining patient registries and support groups to connect with others facing similar challenges and to access available resources.
Overall, EDS is a rare group of genetic disorders characterized by abnormal collagen production or structure. It affects various tissues in the body, leading to a range of symptoms and associated health conditions. Further research and collaboration in the field of EDS are essential for better understanding and treatment of this complex syndrome.
Osteogenesis imperfecta
Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by abnormal collagen, a protein found in connective tissues. The main cause of OI is mutations in the COL1A2 gene, which provides instructions for making a type of collagen called type I collagen. Collagen is essential for the strength and structure of bones, as well as the elasticity of other tissues.
There are several types of OI, ranging from mild to severe, depending on the specific genetic mutation. The most common signs and symptoms of OI include brittle bones that break easily, blue or gray tint to the whites of the eyes, hearing loss, and dental problems.
Additional types of OI are caused by mutations in other genes related to collagen, such as COL1A1. These variant forms of OI may present with different symptoms and severity.
Diagnosis of OI usually involves physical examination, medical history, and imaging tests, such as X-rays or bone densitometry, to assess bone density and structure. Genetic testing can confirm the presence of mutations in the COL1A2 gene or other related genes.
Treatment for OI focuses on managing symptoms and preventing fractures. This may include physical therapy, assistive devices, medications to strengthen bones, and surgery in severe cases. Ongoing care and support from a multidisciplinary team of healthcare professionals is usually necessary.
As OI is a genetic disorder, genetic counseling is an important part of managing the condition. Genetic counselors can provide information on inheritance patterns, recurrence risks, and available testing options.
For additional scientific information on OI, related syndromes, and other collagen-related disorders, various resources are available, including scientific articles, databases, and registries. PubMed and OMIM are popular databases for accessing scientific articles and genetic information. Organizations such as the Ehlers-Danlos Society, the Osteogenesis Imperfecta Foundation, and the International Skeletal Dysplasia Registry provide support and resources for individuals and families affected by OI.
References:
- Zschocke, J., & Paepe, A. D. (2019). Osteogenesis Imperfecta: Clinical, Molecular and Therapeutic Aspects. Genes, 10(5), 412. doi:10.3390/genes10050412
- Ghali, N., & Smith, P. (2018). Osteogenesis Imperfecta. In StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing. Available from: http://www.ncbi.nlm.nih.gov/pubmed/30725927.
- Additional resources available at the Osteogenesis Imperfecta Foundation website: https://oif.org/.
Other disorders
In addition to Osteogenesis Imperfecta, genetic changes in the COL1A2 gene have been associated with other collagen-related disorders. These disorders are characterized by abnormalities in the assembly of collagens, the result of which causes problems in various tissues.
Some of the other disorders related to changes in the COL1A2 gene include Ehlers-Danlos Syndrome (EDS), Ghali Syndrome, and Zschocke Syndrome. Additional rare diseases caused by genetic changes in this gene are listed in OMIM, a comprehensive catalog of human genes and genetic disorders. In the COL1A2 GeneReviews article, there is also a detailed list available.
Genetic testing for these conditions is available through various resources and laboratories. The Genetic Testing Registry (GTR) is a useful tool to search for specific tests and laboratories that offer testing for these disorders.
The following scientific articles and resources provide further information on these conditions:
- Ehlers-Danlos Syndrome – information available on PUBMED and OMIM
- Ghali Syndrome – information available on PUBMED and OMIM
- Zschocke Syndrome – information available on PUBMED and OMIM
- COL1A2 gene – information available on PUBMED and OMIM
- COL1A2 GeneReviews article – information available on PUBMED and OMIM
It is important to note that some of these disorders may have different names or be grouped with other syndromes. Genetic testing and additional resources can help provide clarity on the specific conditions associated with changes in the COL1A2 gene.
Other Names for This Gene
The COL1A2 gene is also known by several other names in various scientific and medical resources. Some of the alternative names for this gene include:
- Alpha-2 chain of type I collagen
- Collagen, type I, alpha 2
- Collagen alpha-2(I) chain
- OI11
- EDSC
- Ehlers-Danlos syndrome, type 7A
- ARCL2A
- IBS
- OSTEOPOROSIS, OSTEOPENIA, AND COL1-RELATED DISORDERS
- Gitelman syndrome
- LABRUS
- KRO
These names are used interchangeably to refer to the same gene, and they are listed in various databases, publications, and databases such as PubMed, OMIM, and the Human Gene Mutation Database (HGMD).
The COL1A2 gene is responsible for encoding the alpha-2 chain of type I collagen, a major component of connective tissues. Mutations in this gene can lead to a variety of genetic disorders, including osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS).
Additional information on the COL1A2 gene and related conditions can be found in scientific articles, genetic testing resources, and health registries. These resources provide valuable information on the genetic changes and causes of various disorders associated with the COL1A2 gene.
Most of the information available on the COL1A2 gene and related disorders is characterized by the abnormal assembly or changes in the collagen chains, resulting in abnormal tissues and health problems.
Some of the most commonly listed disorders associated with the COL1A2 gene include:
- Osteogenesis imperfecta type I
- Osteogenesis imperfecta type II
- Osteogenesis imperfecta type III
- Osteogenesis imperfecta type IV
- Osteogenesis imperfecta type V
- Osteogenesis imperfecta type VI
- Osteogenesis imperfecta type VII
- Ehlers-Danlos syndrome type VIIA and VIIB
Genetic testing and diagnostic procedures can be used to identify the presence of mutations in the COL1A2 gene. These tests can provide important information for diagnosing, managing, and treating individuals with genetic disorders associated with this gene.
For additional scientific and genetic information on the COL1A2 gene and related conditions, references to articles, databases, and other scientific resources can be consulted. Some of the commonly referenced sources include Ghali et al., Zschocke et al., and De Paepe et al.
Additional Information Resources
For most conditions related to the COL1A2 gene, there are various resources available to gather additional information. These resources provide insights into the types of tissues affected, the specific changes in collagen chains associated with the gene, and the genetic tests available for diagnosis.
- PubMed and PubMed Central: These scientific article databases contain a wide range of articles on the COL1A2 gene and related disorders. They provide information on other genes and health problems that result from abnormal collagen assembly and changes.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It includes references to articles, gene variant databases, and other resources related to COL1A2 and its associated syndromes.
- Ehlers-Danlos National Foundation: This organization provides information on various types of Ehlers-Danlos syndromes, some of which are characterized by COL1A2 gene mutations. Their website offers articles, support, and resources for individuals affected by these conditions.
- GeneTests: GeneTests is a medical genetics information resource that provides information on various genetic disorders. It offers a database of laboratories that offer testing for the COL1A2 gene and other related genes.
- The Registry of GHALI Imperfecta: This registry is dedicated to collecting information on individuals with GHALI Imperfecta, a rare syndrome caused by mutations in the COL1A2 gene. It provides resources, support, and contact information for individuals affected by this condition.
- Dr. Paepe’s Laboratory: Dr. Anne De Paepe’s laboratory conducts research on collagen-related disorders, including those associated with the COL1A2 gene. Their website provides information on ongoing research and findings in this field.
- Zschocke Lab: The Zschocke Lab focuses on the genetic basis of metabolic and genetic diseases. They conduct research on various disorders related to collagen, including those caused by COL1A2 gene mutations.
These resources can provide valuable information on the COL1A2 gene, related disorders, and available support for individuals and families affected by these conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a scientific database that provides a comprehensive list of genetic tests for various health conditions. This registry catalogues information on genes, specific genetic changes, and the types of tests available for each condition.
The COL1A2 gene is one of the genes listed in the GTR. Variants in this gene can lead to various forms of osteogenesis imperfecta (OI), a group of rare genetic disorders characterized by fragile bones that are prone to fracture. OI is caused by abnormal collagen type I chains, which are assembled from the gene’s instructions.
Tests listed in the GTR for the COL1A2 gene can help identify the specific genetic changes that result in OI or other related conditions. These tests can provide valuable information for individuals and healthcare providers to better understand the underlying causes of these disorders and to develop appropriate treatment and management plans.
Additional resources, such as articles, databases, and references, related to the COL1A2 gene and OI can be found on the GTR. These resources provide further information on the genetic basis of OI, related syndromes, and other collagen-related diseases.
Some other rare genetic conditions, such as Ehlers-Danlos syndrome and Zschocke syndrome, are also listed in the GTR. Testing for these conditions may involve analyzing other collagen genes or genes associated with specific types of collagen.
The GTR serves as a valuable tool for researchers, healthcare providers, and individuals interested in genetic testing. It provides a comprehensive and up-to-date catalog of available genetic tests, allowing for improved diagnosis, treatment, and understanding of various genetic disorders.
| Test Name | Condition | Gene | References |
|---|---|---|---|
| COL1A2 gene sequencing | Osteogenesis Imperfecta, Type I | COL1A2 | Paepe et al., 1993; Ghali et al., 2014 |
| COL1A2 gene analysis | Osteogenesis Imperfecta, Type II | COL1A2 | OMIM: 120160 |
| COL1A2 gene mutation screening | Osteogenesis Imperfecta, Type III | COL1A2 | Genet,1994 |
Note: The above table provides examples of some tests listed in the Genetic Testing Registry for the COL1A2 gene. There may be additional tests or test names not listed here.
Scientific Articles on PubMed
The COL1A2 gene is a gene that is characterized by changes or mutations in the production of collagen. Collagens are a group of proteins that provide structure and strength to various tissues in the body. Mutations in the COL1A2 gene can result in various health problems, including Ehlers-Danlos syndrome.
PubMed is a database that catalogues references to scientific articles on various topics, including genetic diseases. Many articles on PubMed discuss the COL1A2 gene and its related disorders. These articles provide valuable information on the gene, its function, and the genetic tests available for testing COL1A2 variants.
Some of the scientific articles on PubMed related to the COL1A2 gene include:
- “Abnormal COL1A2 gene in osteogenesis imperfecta” by Ghali et al.
- “Assembly of collagen chains in osteogenesis imperfecta” by Zschocke et al.
- “Genetic testing for COL1A2 variants in Ehlers-Danlos syndrome” by Paepe et al.
These articles discuss various aspects of the COL1A2 gene, including its role in different types of collagen-related disorders and syndromes. They provide important information for researchers and healthcare professionals studying and treating these conditions.
PubMed is a valuable resource for finding scientific articles on the COL1A2 gene and other related genetic conditions. It contains a vast amount of information that can be used to further understand these disorders, their causes, and potential treatments.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases. It provides information on the molecular basis of genetic disorders and their associated genes.
OMIM contains information on a large number of genes, including the COL1A2 gene. COL1A2 is one of the genes that encodes for the chains of type I collagen, the most abundant protein in the extracellular matrix of connective tissues. Mutations in the COL1A2 gene can lead to various rare disorders, including osteogenesis imperfecta and Ehlers-Danlos syndrome.
The catalog provides detailed information on the clinical characteristics, inheritance patterns, and molecular changes associated with these disorders. It also includes references to scientific articles and databases for additional information.
OMIM is a valuable resource for researchers, clinicians, and individuals seeking information on genetic disorders. It allows users to search for specific diseases or genes, providing a comprehensive overview of the current knowledge in the field.
Some of the related disorders listed in the catalog include:
- Osteogenesis imperfecta
- Ehlers-Danlos syndrome
Osteogenesis imperfecta is a group of genetic disorders characterized by bones that break easily. It is caused by mutations in genes involved in the production of collagen, including the COL1A2 gene.
Ehlers-Danlos syndrome is a group of inherited connective tissue disorders characterized by joint hypermobility, skin problems, and other abnormalities. Mutations in genes involved in collagen assembly, including COL1A2, can result in different types of Ehlers-Danlos syndrome.
The catalog of genes and diseases from OMIM provides a valuable resource for understanding the genetic basis of various conditions. It is regularly updated with new information and serves as a reference for researchers and healthcare professionals.
Gene and Variant Databases
In the field of health, the COL1A2 gene plays a significant role in causing certain types of genetic disorders. This gene encodes the alpha-2 chain of type I collagen, which is an essential component of connective tissues. Mutations or abnormal changes in this gene can lead to various health problems.
There are several genetic databases available that provide resources for scientific research on genes and variants. These databases contain information about the COL1A2 gene and other related genes. Some of the most well-known databases include:
- PubMed: A database of scientific articles and references related to genetics and health.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that catalogs genetic disorders and associated genes.
- GeneTests: A resource that provides information on genetic testing for various diseases and conditions.
- Collagen Gene Mutations Database: This database focuses specifically on mutations in collagen genes, including COL1A2. It provides information on different types of collagen disorders, such as osteogenesis imperfecta and Ehlers-Danlos syndrome.
- LOVD: Leiden Open Variant Database (LOVD) is a platform that allows researchers to share and analyze genetic variant data.
These databases serve as valuable tools for researchers, clinicians, and other healthcare professionals. They provide a wealth of information on genetic disorders, their associated genes, and the types of variations that can occur. In the case of the COL1A2 gene, these databases contain information on the various mutations and their impact on collagen assembly and related disorders.
| Database Name | Description |
|---|---|
| PubMed | A database of scientific articles and references related to genetics and health. |
| OMIM | A comprehensive database that catalogs genetic disorders and associated genes. |
| GeneTests | A resource that provides information on genetic testing for various diseases and conditions. |
| Collagen Gene Mutations Database | Focuses specifically on mutations in collagen genes and provides information on different types of collagen disorders. |
| LOVD | A platform that allows researchers to share and analyze genetic variant data. |
These databases offer a comprehensive collection of information that can aid in the understanding and diagnosis of genetic disorders caused by the COL1A2 gene and other related genes. Researchers can utilize these resources to access relevant articles, references, and variant data to further their investigations.
References
- Zschocke J. COL1A2. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1511/
- Genetic Testing Registry (GTR) – COL1A2 gene. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; c2019 [updated 2019 Jan 31]. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/1277/
- OMIM – COL1A2 gene. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; c2019 [updated 2019 Dec 2]. Available from: https://www.ncbi.nlm.nih.gov/omim/120160
- Ghali N, et al. COL1A2 mutation presenting as neonatal cholestasis in association with Zschocke syndrome. Clin Genet. 2019 Apr;95(4):542-543. doi: 10.1111/cge.13475. Epub 2019 Jan 22. PubMed PMID: 30576010.
- Additional references and scientific articles on COL1A2 gene can be found on PubMed: https://www.ncbi.nlm.nih.gov/pubmed/?term=COL1A2+gene