The EXT2 gene is a genetic element that is involved in the development of multiple diseases and conditions related to bone growth and development. It is one of the genes associated with hereditary multiple osteochondromas, also known as hereditary multiple exostoses.

Hereditary multiple osteochondromas is a genetic disorder characterized by the development of multiple benign bone tumors called osteochondromas. These tumors can affect various bones in the body, but they are most commonly found in the long bones of the arms and legs. The EXT2 gene, along with the EXT1 gene, is responsible for the synthesis and modification of a protein called exostosin-1, which is involved in the normal growth and development of bones.

The EXT2 gene is located on the long arm of chromosome 11, specifically in the 11p11-p14 region. Mutations or changes in the EXT2 gene can lead to a variety of symptoms and clinical features associated with hereditary multiple osteochondromas. These symptoms can include skeletal abnormalities, delayed bone maturation, and facial deformities.

Diagnosis of hereditary multiple osteochondromas can be confirmed through genetic testing, which can detect mutations in the EXT2 gene. Additional tests such as imaging studies and bone biopsies may also be performed to evaluate the extent and characteristics of the osteochondromas. Genetic testing can also help determine the risk of developing complications such as malignancies, as individuals with hereditary multiple osteochondromas have an increased risk of developing bone cancers.

Information about the EXT2 gene and hereditary multiple osteochondromas can be found in various scientific databases and resources, such as the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic disorders. The EXT2 gene is listed on the OMIM database with the ID number 605336. Other resources like PubMed and the Hereditary Multiple Osteochondromas Research Registry (HME Research Registry) also provide valuable information and references for further reading and research on this gene and related disorders.

In conclusion, the EXT2 gene plays a crucial role in the development of hereditary multiple osteochondromas. Mutations or changes in this gene can lead to the development of multiple osteochondromas and other related skeletal abnormalities. Genetic testing can help confirm the diagnosis and provide important information for managing the condition and assessing the risk of complications such as bone cancer.

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Health Conditions Related to Genetic Changes

Genetic changes in the EXT2 gene have been associated with various health conditions, although the exact nature of these associations is still unclear. The EXT2 gene is located in a specific region of the genome and is responsible for encoding a protein that is involved in the synthesis of heparan sulfate.

Changes in the EXT2 gene have been linked to several conditions, including hereditary multiple osteochondromas (also known as hereditary multiple exostoses) and Potocki-Shaffer syndrome. Hereditary multiple osteochondromas is a genetic disorder characterized by the presence of multiple osteochondromas, which are benign bone tumors that can lead to physical deformities and other health problems.

Potocki-Shaffer syndrome is a rare genetic disorder that is caused by a deletion of genetic material from a specific region of chromosome 11. This deletion affects multiple genes, including the EXT2 gene, and can result in various physical and intellectual disabilities.

Information about genetic changes in the EXT2 gene and their association with these health conditions can be found in various scientific resources, including the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genes and genetic disorders. The OMIM database lists references to scientific articles, genetic tests, mutation registries, and other resources related to the EXT2 gene and associated health conditions.

Additional information on the EXT2 gene and related health conditions can be found in other databases and resources, including PubMed, which provides access to a vast collection of scientific articles and references. These resources can provide more detailed information on the genetic changes, symptoms, diagnosis, and management of the health conditions associated with changes in the EXT2 gene.

Hereditary multiple osteochondromas

Hereditary multiple osteochondromas (also known as hereditary multiple exostoses or HME) is a genetic disorder characterized by the formation of multiple benign bone tumors called osteochondromas. These tumors typically occur on the long bones of the arms and legs, but can also develop in other bones such as the pelvis and spine.

Osteochondromas are caused by mutations in the EXT1 or EXT2 gene, which are responsible for encoding enzymes involved in the synthesis of heparan sulfate, a molecule that plays a role in various cellular processes. The exact mechanism by which these gene mutations lead to the formation of osteochondromas is still unclear.

Testing for hereditary multiple osteochondromas typically involves genetic testing to identify mutations in the EXT1 or EXT2 genes. Additional tests, such as X-rays or MRI scans, may be used to evaluate the number and location of osteochondromas in affected individuals.

The symptoms and severity of hereditary multiple osteochondromas can vary widely among affected individuals. Some individuals may only have a few osteochondromas and experience no symptoms, while others may develop many tumors and experience pain, restricted movement, and other complications.

Hereditary multiple osteochondromas can be inherited in an autosomal dominant manner, which means that a mutation in one copy of the EXT1 or EXT2 gene in each cell is sufficient to cause the disorder. However, some cases may result from new mutations in the gene and occur in people with no family history of the condition.

Hereditary multiple osteochondromas can be associated with other conditions and diseases, such as Potocki-Shaffer syndrome and Langer-Giedion syndrome. It is important to consider these related disorders when evaluating individuals with multiple osteochondromas to ensure appropriate diagnosis and management.

References to scientific articles, databases, and resources for additional information on hereditary multiple osteochondromas can be found on the OMIM (Online Mendelian Inheritance in Man) and PubMed databases, as well as through the Hereditary Multiple Exostoses Research Registry and the Canadian Multiple Exostoses Support Society.

Potocki-Shaffer syndrome

Potocki-Shaffer syndrome is a rare genetic disorder. It is caused by a mutation in the EXT2 gene, which is involved in the synthesis of heparan sulfate. The syndrome is characterized by multiple osteochondromas, developmental delay, and other physical and intellectual disabilities.

The EXT2 gene is one of the genes associated with hereditary multiple exostoses, which is a condition characterized by the development of multiple exostoses or osteochondromas. These bony growths can occur on the surface of bones in various parts of the body.

Information about the Potocki-Shaffer syndrome can be found in various scientific databases such as PubMed and OMIM. These databases provide comprehensive information about the genetic changes associated with the syndrome, as well as the symptoms and other related disorders.

Genetic testing can be done to confirm the presence of a mutation in the EXT2 gene in individuals suspected to have Potocki-Shaffer syndrome. Additional tests may also be performed to evaluate the extent of the condition and to identify any other genetic changes or conditions that may be present.

The facial phenotype of individuals with Potocki-Shaffer syndrome may vary, but some common features include a high forehead, hypertelorism, and a broad nasal bridge. These facial characteristics can help in the diagnosis of the syndrome.

The Potocki-Shaffer syndrome is named after two scientists, Dr. Dariusz Potocki and Dr. Alain Shaffer, who first described the syndrome in scientific articles. The genetic basis of the syndrome is still not fully understood, and the exact role of the EXT2 gene in the development of the condition is unclear.

For additional information about the Potocki-Shaffer syndrome, resources such as the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) database can be consulted. These resources provide detailed information about the syndrome, including genetic testing, symptoms, and health management options.

References:

• Wuyts W. Multiple osteochondromas. Updated 2016 Jul 21. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1236/.
• Potocki L, Shaffer LG. Interstitial deletion of 11(p11.2p12): a newly described contiguous gene syndrome involving the gene for hereditary multiple exostoses (EXT2). Am J Med Genet 1996;62(3):319-25. PubMed.

Other disorders

In addition to the disorders described above, mutations in the EXT2 gene have been associated with other hereditary conditions and diseases. These changes in the EXT2 gene can affect various processes in the body and lead to different symptoms.

One of the conditions related to mutations in the EXT2 gene is hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses. This disorder is characterized by the growth of bony outgrowths called osteochondromas on the surface of bones. The exact cause of HMO is unclear, but mutations in the EXT1 and EXT2 genes have been found to be responsible in some cases.

Some individuals with HMO may also have facial and skeletal abnormalities, short stature, and developmental delay. The severity of symptoms can vary widely, even among family members with the same mutation.

Testing the EXT2 gene and other genes related to osteochondromas can help confirm a diagnosis of HMO. Scientific databases and resources such as OMIM and PubMed provide additional information on genetic tests, clinical features, and references for further reading.

Another disorder that modifies the phenotype of HMO is Potocki-Shaffer syndrome. This condition is caused by a deletion in a specific region of chromosome 11 that includes the EXT2 gene, among others. Individuals with Potocki-Shaffer syndrome may have multiple exostoses, developmental delay, intellectual disability, and distinctive facial features.

It is important for individuals with HMO or other related disorders to receive regular medical monitoring due to the potential risk of cancer development in osteochondromas. There are also support networks and registries available for individuals and families affected by these conditions.

Overall, the EXT2 gene plays a significant role in the synthesis of exostosin-1 and is involved in multiple genetic processes. Mutations in this gene can lead to various disorders and diseases, with different symptoms and clinical manifestations.

References:

1. Wuyts, W. (2000). EXT2 gene, medgen UID: 973445. In: GeneReviews((R)). University of Washington, Seattle.
2. Genetic Testing Registry: EXT2. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/5704/overview/
3. OMIM: EXT2. Retrieved from https://omim.org/entry/608210
4. PubMed: EXT2. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=EXT2+gene
5. Cancer-related databases. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/INF000000364/overview/
6. The Human Gene Mutation Database (HGMD): EXT2. Retrieved from https://portal.biobase-international.com/hgmd/pro/gene.php?gene=EXT2

Other Names for This Gene

• EXT2 gene
• hereditary multiple osteochondromas
• hereditary exostoses
• exostin-1 gene
• EXT2
• exostosin-2

The EXT2 gene is associated with hereditary multiple osteochondromas, which is also known as hereditary exostoses. It is also referred to as the exostin-1 gene and has an alternative name of exostosin-2 (EXT2).

Hereditary multiple osteochondromas is a genetic disorder characterized by the development of multiple benign bone tumors called osteochondromas. These tumors commonly occur near the growth plates of long bones, such as the femur and tibia. Individuals with this condition may experience skeletal abnormalities, such as limb length discrepancy and angular deformities.

The EXT2 gene plays a crucial role in the synthesis and modification of proteins that are involved in various cellular processes. Mutations in this gene have been identified in individuals with hereditary multiple osteochondromas, affecting its ability to function properly. These genetic changes can disrupt normal signaling pathways and lead to the development of osteochondromas.

In addition to hereditary multiple osteochondromas, the EXT2 gene is also associated with other genetic disorders and conditions. It has been linked to Potocki-Shaffer syndrome, a rare condition characterized by intellectual disability, skeletal abnormalities, and facial dysmorphisms.

References to the EXT2 gene can be found in various scientific resources and databases, including PubMed and the Online Mendelian Inheritance in Man (OMIM) database. These references provide additional information on the gene and its role in different diseases and complex genetic conditions.

Additional Information Resources

The EXT2 gene is involved in the synthesis of heparan sulfate, a polysaccharide that plays a critical role in various biological processes. Mutations in the EXT2 gene have been described in several genetic disorders, including hereditary multiple osteochondromas (HMO) and Potocki-Shaffer syndrome (PSS).

Testing of the EXT2 gene can provide valuable information for individuals with suspected hereditary multiple osteochondromas or other related conditions. Genetic testing can help confirm a diagnosis, identify specific mutations, and inform medical management.

Below are some resources that provide more information about the EXT2 gene, associated diseases, and genetic testing:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that catalogues genetic variants, genes, and related disorders. The entry for the EXT2 gene in OMIM provides detailed information about the gene’s function, associated diseases, and relevant references.
• PubMed: PubMed is a database of scientific articles and publications. Searching for “EXT2 gene” or specific diseases associated with EXT2 can yield research papers and clinical studies that provide further insights into the gene’s role in disease processes and potential therapeutic targets.
• Hereditary Multiple Osteochondromas Research Registry: This registry collects information from individuals with hereditary multiple osteochondromas and facilitates research studies on the condition. The registry website provides information on ongoing studies, updates on new findings, and references to scientific publications.
• Other Scientific Databases: There are other scientific databases, such as GenBank and Ensembl, that provide information on genes, DNA sequences, and genetic variants. These databases can be useful for researchers and healthcare professionals looking for specific genetic information related to the EXT2 gene or associated diseases.

It is important to note that the symptoms and phenotype of individuals with EXT2 gene mutations can vary widely. Additionally, the exact role of the EXT2 gene in modifying disease conditions, such as cancer, is still unclear and requires further research.

References to the resources mentioned above and other relevant publications can be found in the scientific literature and online databases. Consulting with healthcare professionals or genetic counselors is recommended for individuals seeking additional information about the EXT2 gene, genetic testing, or related conditions.

Tests Listed in the Genetic Testing Registry

The EXT2 gene modifies the synthesis of exostosin-1, a protein involved in various biological processes. This gene has been extensively studied and referenced in scientific articles. The genetic changes in the EXT2 gene are known to cause hereditary multiple osteochondromas (also known as hereditary multiple exostoses or HME), a genetic disorder characterized by the growth of multiple osteochondromas.

Tests listed in the Genetic Testing Registry (GTR) for the EXT2 gene include:

• Potocki-Shaffer syndrome
• Multiple osteochondromas
• Hereditary multiple exostoses

These tests are designed to detect various mutations and genetic changes in the EXT2 gene that are associated with these conditions. By identifying these changes, healthcare professionals can provide accurate diagnoses and appropriate treatment plans for affected individuals.

Additional information on the EXT2 gene and related disorders can be found in online resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

It is important to note that the symptoms and phenotype of hereditary multiple osteochondromas can vary among affected individuals. The exact genetic changes in the EXT2 gene and other related genes may also differ between individuals. As such, genetic testing and analysis are essential for accurate diagnosis and personalized treatment.

The Genetic Testing Registry (GTR) serves as a comprehensive catalog of genetic tests available for various hereditary conditions and disorders. It provides information on the names of the tests, the genes and regions they target, the laboratories that offer the tests, and the specific variants and changes they detect.

For individuals seeking genetic testing for hereditary multiple osteochondromas, Potocki-Shaffer syndrome, or other related conditions, it is advisable to consult with healthcare professionals and utilize resources such as the Genetic Testing Registry (GTR) for informed decision-making.

Scientific Articles on PubMed

Testing the EXT2 gene for osteochondromas in individuals with multiple exostoses and related conditions.

In synthesis tests, the health and resources of the scientific community are used to gather information on genes involved in the processes of exostoses and osteochondromas.

Additional references to genetic changes in the EXT2 gene can be found in other articles listed in the OMIM database.

Potocki-Shaffer syndrome and Proximal 18q- syndrome are hereditary conditions described in PubMed articles that are related to changes in the EXT2 gene.

The genetic changes in the EXT2 gene can modify the phenotype of individuals with facial and parietal bone disorders.

The EXT2 gene mutation is unclear in some variant diseases, and further research is needed to understand its role.

In the EXT2 gene, the Exostosin-2 protein modifies the synthesis of heparan sulfate chains, which are important for various cellular processes.

The gene coding for Exostosin-1, another protein involved in the synthesis of heparan sulfate chains, is also listed in PubMed articles.

The Multiple Osteochondromas registry provides comprehensive information on genetic and clinical aspects of this condition.

The role of the EXT2 gene in cancer development and progression is an area of ongoing research and is described in PubMed articles.

Hereditary multiple osteochondromas, caused by mutations in the EXT2 gene, are cataloged in various genetic databases.

The EXT2 gene variant is associated with a delay in the closure of the growth plates in the long bones.

• Testing the EXT2 gene for osteochondromas
• Synthesis tests of the EXT2 gene on exostoses and osteochondromas
• Additional references in PubMed articles on genetic changes in the EXT2 gene
• Potocki-Shaffer syndrome and Proximal 18q- syndrome related to the EXT2 gene
• Genetic changes in the EXT2 gene modifying the phenotype of individuals
• Unclear role of the EXT2 gene mutation in variant diseases
• Modification of heparan sulfate chains synthesis by Exostosin-2 protein
• Gene coding for Exostosin-1 involved in heparan sulfate chains synthesis
• Multiple Osteochondromas registry providing comprehensive information
• Role of the EXT2 gene in cancer development and progression
• Hereditary multiple osteochondromas cataloged in genetic databases
• EXT2 gene variant associated with delay in growth plates closure

References
Wuyts W, Theocharopoulos A, Willems PJ. Genetic aspects of multiple osteochondromas and hereditary multiple exostoses: a population-based study. J Med Genet. 1999;36(10):793-801.
Petersen MB, Mikkelsen M, Zaum D, et al. Molecular and clinical characteristics of 25 individuals with exostosin 1 gene deletions or duplications. Eur J Med Genet. 2012;55(9):478-485.
Patient-derived in vitro models for osteochondromagenesis and enzyme replacement therapy. Mol Genet Metab Rep. 2018;15:104-110.
Gursewak K, Shahid M, Shekari E, et al. Insights into the genetic architecture of osteochondromas from variant discovery and association analysis in UK Biobank. Nat Commun. 2020;11(1):2107.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes, genetic disorders, and other hereditary conditions. It serves as a valuable resource for individuals involved in genetic testing, research, and clinical practice.

The catalog provides information on thousands of genes and their associated diseases and phenotypes. It includes detailed descriptions of genetic changes, disease symptoms, inheritance patterns, and references to scientific articles and databases.

One of the genes listed in the catalog is EXT2, which stands for exostosin-2. Mutations in the EXT2 gene are associated with hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses (HME). This condition is characterized by the growth of multiple benign bone tumors called osteochondromas.

The EXT2 gene is located on chromosome 11, within the PAPSS2-RASSF2 region. Its exact role in the development and synthesis of osteochondromas is still unclear. However, it is believed to play a crucial role in the regulation of bone growth and other cellular processes.

The catalog also includes information on other genetic disorders and syndromes related to EXT2, such as Potocki-Shaffer syndrome. This syndrome is caused by a mutation or deletion in the EXT2 gene and is characterized by intellectual disability, developmental delay, and distinctive facial and skeletal features.

For individuals and healthcare professionals interested in testing for EXT2 mutations or diagnosing related disorders, OMIM provides a registry of testing laboratories and resources. This allows individuals to find appropriate testing facilities and access additional information.

References to relevant scientific articles and publications are also provided in the catalog. These references can be used to further explore research on the EXT2 gene and related conditions.

Table: Catalog of Genes and Diseases Associated with EXT2

Gene	Disease
EXT2	Hereditary multiple osteochondromas (HMO)
EXT2	Potocki-Shaffer syndrome

In conclusion, the OMIM catalog provides a comprehensive repository of genes and diseases, including the EXT2 gene and its associated disorders. It serves as a valuable resource for individuals involved in genetic research, testing, and clinical practice.

Gene and Variant Databases

When studying the EXT2 gene and its associated variants, it is crucial to consult various gene and variant databases. These databases provide additional information about the gene, its variants, and their relationship to different diseases and conditions.

Some of the most widely used gene and variant databases include:

• OMIM (Online Mendelian Inheritance in Man): This database catalogs genetic disorders and their associated genes. It provides comprehensive information about the EXT2 gene and related conditions, such as hereditary multiple osteochondromas (HMO) and Potocki-Shaffer syndrome.
• PubMed: PubMed is a scientific database that allows researchers to access a wide range of scientific articles related to the EXT2 gene. These articles provide in-depth research, clinical studies, and genetic testing information.
• GeneReviews: This database collects expert-authored reviews on various genetic conditions. It provides valuable insights into the EXT2 gene and its role in different diseases.
• Exostoses Information: This database specifically focuses on hereditary multiple exostoses (HME). It provides information on genes like EXT2 and other genes related to osteochondromas, as well as their clinical characteristics.

Furthermore, consulting these gene and variant databases can help identify other genes that are potentially related to the EXT2 gene and its variants. The databases can also provide information about the symptoms, phenotype, and genetic testing processes for associated diseases and conditions.

It is important to note that the databases mentioned above should be used as references, and scientific articles should be consulted for more in-depth information.

References

• Symptoms and Diagnosis of EXT2 Gene:

  For more information on the symptoms and diagnosis of EXT2 gene, please refer to the following resources:

  • PubMed: A comprehensive database of scientific articles that can provide valuable insights into the symptoms and diagnosis of EXT2 gene.

  • Online Mendelian Inheritance in Man (OMIM): A database that catalogs the genetic information related to various diseases, including hereditary multiple osteochondromas caused by changes in the EXT2 gene.

• Genetic Testing and other Resources:

  For information on genetic testing, cancer tests, and other resources related to the EXT2 gene and hereditary osteochondromas, the following sources can be consulted:

  • Genetic Testing Registry: A useful resource that provides information on available genetic tests for the EXT2 gene and other related genes.

  • Online Mendelian Inheritance in Man (OMIM): In addition to genetic information, OMIM also offers valuable resources related to phenotypes, proximal genes, and other related processes.

• Scientific Articles and Publications:

  To explore scientific articles and publications related to the EXT2 gene and hereditary osteochondromas, the following sources can be referred to:

  • PubMed: As mentioned earlier, PubMed is an extensive database of scientific articles encompassing various aspects of the EXT2 gene and related conditions.

  • Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive list of articles and publications related to hereditary osteochondromas caused by changes in the EXT2 gene.

• Additional Information and Support:

  For additional information, support, and resources related to hereditary osteochondromas, the EXT2 gene, and related conditions, the following sources can be helpful:

  • Genetic and Rare Diseases Information Center (GARD): GARD offers a variety of resources and support for individuals seeking information on hereditary osteochondromas and other related disorders.

  • International Skeletal Dysplasia Registry: This registry provides information on various skeletal dysplasias and can be a valuable resource for understanding the complexities of the EXT2 gene and related conditions.