EXT1 gene – Austra Health

The EXT1 gene, also known as exostosin-1, is a gene that is associated with multiple conditions and syndromes. It has been extensively researched and documented in scientific literature, including articles on Pubmed and OMIM databases. The EXT1 gene is related to a group of genes called the exostosin glycosyltransferase family, which are involved in the biosynthesis of heparan sulfate proteoglycans.

One of the syndromes associated with mutations in the EXT1 gene is hereditary multiple osteochondromas (HME), also known as multiple hereditary exostoses (MHE). This syndrome is characterized by the development of multiple benign bone tumors called osteochondromas. Other related conditions and syndromes include trichorhinophalangeal syndrome, type II (TRPS2) and a variant of hereditary multiple osteochondromas.

The EXT1 gene is listed in various genetic resources, such as Genetests, GeneReviews, and the Online Mendelian Inheritance in Man (OMIM) database. These resources provide information about the gene, its associated diseases and conditions, and the tests available for genetic testing. The EXT1 gene is considered to be part of a complex testing panel, as mutations or changes in other genes can also lead to hereditary multiple osteochondromas.

The EXT1 gene and its related proteins play a crucial role in the regulation of skeletal development and bone formation. Mutations in the EXT1 gene can disrupt the normal function of these proteins, leading to the development of osteochondromas and other skeletal abnormalities. Understanding the role of the EXT1 gene and its variants is essential for diagnosing and managing related syndromes and conditions.

This article will provide an overview of the EXT1 gene, its associated syndromes and conditions, and the scientific references and resources available for further reading and research.

Health Conditions Related to Genetic Changes

Genetic changes in the EXT1 gene are associated with trichorhinophalangeal syndrome type II, which is a hereditary condition. This syndrome is characterized by skeletal abnormalities, such as short stature, cone-shaped epiphyses, and distinctive facial features including a bulbous nose. It is also associated with intellectual disability and other developmental delays.

To learn more about this syndrome and other related health conditions, you can refer to the Online Mendelian Inheritance in Man (OMIM) database. This scientific resource provides comprehensive information on various genetic disorders and their associated genes.

The hereditary multiple exostoses (HME) syndrome, which is characterized by the development of multiple osteochondromas, is another health condition related to changes in the EXT1 gene. Osteochondromas are benign bone tumors that can lead to bone deformities and other complications. The HME syndrome has variable expressivity and can affect multiple family members.

For additional information on these conditions and the EXT1 gene, you can also consult other genetic databases and resources, including the Seattle Genetics Testing Registry. These resources provide comprehensive information on genetic variants, gene names, and testing options.

Scientific articles related to these health conditions and genes can be found in PubMed, a database of biomedical literature. These articles can provide further insights into the molecular mechanisms and clinical manifestations of these diseases.

Overall, changes in the EXT1 gene are associated with trichorhinophalangeal syndrome type II and hereditary multiple exostoses syndrome. Understanding the genetic basis of these conditions can help in diagnosis, genetic counseling, and potential treatment strategies.

Hereditary multiple osteochondromas

Hereditary multiple osteochondromas (HMO) is a genetic condition characterized by the presence of multiple osteochondromas, which are benign bone tumors. These tumors typically develop during childhood or adolescence and can affect any bone in the body. HMO is also known as hereditary multiple exostoses (HME) or multiple hereditary exostoses (MHE).

HMO is listed as a type of hereditary skeletal disorder, and it is primarily caused by mutations in the EXT1 or EXT2 genes. These genes provide instructions for making proteins that are involved in the normal development and maintenance of bones and other connective tissues.

Testing for mutations in the EXT1 and EXT2 genes can confirm a diagnosis of HMO. Genetic testing can be performed using a variety of methods, including sequencing the entire coding region of these genes or targeted mutation analysis.

Additional information on hereditary multiple osteochondromas can be found in various databases and scientific articles. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders and provides detailed information on HMO. The Genetic Testing Registry (GTR), maintained by the National Institutes of Health (NIH), can also provide information on available genetic tests for HMO.

References to studies and articles related to HMO can be found in the PubMed database, which is a widely used resource for accessing scientific literature in the field of medicine.

Trichorhinophalangeal syndrome type II is a related condition that can display overlapping features with HMO. It is caused by mutations in the EXT2 gene, which is closely related to the EXT1 gene.

In conclusion, hereditary multiple osteochondromas (HMO) is a complex genetic disorder that can be caused by mutations in the EXT1 or EXT2 genes. There are additional resources and databases available to gather more information on this condition, including the OMIM and GTR. Testing for mutations in these genes can confirm a diagnosis of HMO, and overlapping features with other conditions like trichorhinophalangeal syndrome type II should be considered.

Trichorhinophalangeal syndrome type II

Trichorhinophalangeal syndrome type II is a genetic disorder characterized by multiple conditions, including abnormalities of the hair, nose, and fingers. It is caused by mutations in the EXT1 gene, which is located on chromosome 8.

The EXT1 gene encodes a protein called exostosin-1, which is involved in the production of a complex molecule called heparan sulfate. Heparan sulfate plays a role in several biological processes, including cell signaling and the development of connective tissues.

Trichorhinophalangeal syndrome type II is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene to develop the disorder. However, some cases may be due to new mutations in the EXT1 gene and occur in people with no family history of the condition.

Diagnosis of Trichorhinophalangeal syndrome type II can be confirmed through genetic testing. This involves analyzing the patient’s DNA for changes in the EXT1 gene. Several resources, including the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry, provide information on available tests and laboratories offering testing for this syndrome.

There is currently no cure for Trichorhinophalangeal syndrome type II. Treatment focuses on managing the symptoms and preventing complications. This may include surgery to correct skeletal abnormalities, physical therapy to improve joint function, and speech therapy for speech and language delays.

For more information on Trichorhinophalangeal syndrome type II, including scientific articles and references, the following resources may be helpful:

OMIM: Online Mendelian Inheritance in Man
Genetic Testing Registry
Seattle Children’s Hospital: Trichorhinophalangeal Syndrome

Additional information on related conditions and genes, including EXT2 mutations and osteochondromas, can also be found in these resources.

Other Names for This Gene

The EXT1 gene is also known by other names:

Exostosin-1
Exostosin glycosyltransferase 1
Exostosin-1-related
EXT1 variant

This gene is associated with multiple diseases and conditions:

Hereditary multiple osteochondromas
Trichorhinophalangeal syndrome, type II
Hereditary multiple osteochondromas and trichorhinophalangeal syndrome

The EXT1 gene is related to other genes such as:

EXT2 (Exostosin-2)
TRAP1 (Trichorhinophalangeal syndrome, type I)

More information on the EXT1 gene can be found in the following resources:

The Genetic Testing Registry
The OMIM database
The Seattle Children’s Hospital gene testing catalogs
The PubMed database for scientific references

This gene is associated with various mutations and changes. Additional tests for this gene can be done for hereditary multiple osteochondromas and trichorhinophalangeal syndrome, as well as other related conditions.

Additional Information Resources

For more information on the EXT1 gene and related hereditary conditions:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the EXT1 gene, as well as genetic variants and their association with various diseases, including osteochondromas. Visit the OMIM website for additional resources.
Trichorhinophalangeal Syndrome Registry: The Trichorhinophalangeal Syndrome Registry is a scientific database that contains information on hereditary conditions linked to mutations in the EXT1 gene. This registry collects data from individuals and families affected by trichorhinophalangeal syndrome, multiple osteochondromas, and other related conditions.
Genetic Testing: Genetic testing can help identify changes or mutations in the EXT1 gene. This testing is typically done to diagnose conditions such as hereditary multiple osteochondromas or trichorhinophalangeal syndrome. Consult with a healthcare professional or genetic counselor to determine if genetic testing is appropriate for you or your family.
Seattle Children’s Hospital: Seattle Children’s Hospital offers genetic testing and counseling services for individuals with suspected EXT1 gene mutations or related conditions. Visit their website for more information on testing options and resources.
PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information on the EXT1 gene, as well as related proteins and genes. Search PubMed for additional articles and references on the EXT1 gene and associated conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a resource that provides information about genetic tests for hereditary conditions. It includes tests for the EXT1 gene and related genes.

The EXT1 gene, also known as exostosin-1, is associated with the hereditary condition known as hereditary multiple osteochondromas (also called hereditary multiple exostoses or HME). This condition is characterized by the development of multiple osteochondromas, which are benign bone tumors that grow on the surface of bones.

Tests listed in the GTR for the EXT1 gene include:

OMIM: This test analyzes mutations in the EXT1 gene to determine a genetic diagnosis of hereditary multiple osteochondromas.
Trichorhinophalangeal Syndrome Type II: This test examines mutations in the EXT1 gene to diagnose trichorhinophalangeal syndrome type II, a rare genetic disorder characterized by distinctive facial features, skeletal abnormalities, and other symptoms.
Hereditary Multiple Exostoses: This test looks for mutations in the EXT1 gene to identify hereditary multiple exostoses, a genetic condition that causes the growth of multiple osteochondromas.

The GTR provides additional information about the tests, including scientific references, variant and disease information, testing resources, and changes to the test over time.

Other databases, such as PubMed and the Seattle Children’s Hospital Database, may also have information about tests for the EXT1 gene and related genes. These resources can provide more information about genetic testing options and other conditions associated with mutations in these genes.

Overall, the tests listed in the GTR and other databases can help healthcare professionals and individuals make informed decisions about genetic testing for conditions related to the EXT1 gene and related genes.

Scientific Articles on PubMed

Below is a list of scientific articles related to the EXT1 gene and its associated proteins. These articles provide valuable information and references for researchers and healthcare professionals interested in studying or testing for hereditary conditions related to this gene.

Article 1: “Mutations in the EXT1 gene in patients with hereditary multiple exostoses” – This article explores the role of EXT1 mutations in the development of hereditary multiple exostoses, a condition characterized by the growth of multiple osteochondromas.
Article 2: “Exostosin-2 (EXT2) gene and hereditary multiple osteochondromas” – This article discusses the function of the EXT2 gene and its involvement in the development of hereditary multiple osteochondromas.
Article 3: “Genetic changes in the EXT1 gene in patients with trichorhinophalangeal syndrome type II” – This article investigates the genetic changes in the EXT1 gene associated with trichorhinophalangeal syndrome type II.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and diseases. It serves as a valuable resource for scientific research, genetic testing, and health professionals.

The catalog contains information on a wide range of genetic conditions, including rare diseases and complex syndromes. It provides detailed descriptions of the genes involved, as well as the specific changes or variants that are associated with each disease.

One example of a syndrome listed in the OMIM catalog is Trichorhinophalangeal syndrome type II. This hereditary condition is caused by changes in the EXT1 gene, which codes for the exostosin-2 protein. Individuals with this syndrome may experience various health issues, such as skeletal abnormalities and multiple osteochondromas.

The OMIM catalog also provides additional resources for further research, such as references to scientific articles and databases like PubMed. It allows users to access relevant information on related genes, diseases, and other conditions.

Genetic testing labs and healthcare professionals can utilize the OMIM catalog to find information on specific genes or diseases. It helps them understand the underlying genetic causes of various conditions and aids in the diagnosis and management of patients.

The OMIM catalog serves as a registry for genetic diseases and provides a centralized database for researchers and healthcare professionals. It facilitates the sharing of knowledge and promotes collaboration in the field of genetics.

Overall, the OMIM catalog is a valuable resource for obtaining comprehensive information on genes, diseases, and their associations. It plays a crucial role in advancing our understanding of genetics and improving patient care.

Gene and Variant Databases

When researching genetic diseases, it is important to have access to reliable and comprehensive gene and variant databases. These databases provide valuable information on the genes and variants associated with various diseases and conditions.

OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database of human genes and genetic conditions. It provides detailed information on the genes, proteins, and mutations associated with different diseases, including the EXT1 gene and its related conditions such as Trichorhinophalangeal syndrome.
GeneReviews: GeneReviews is a valuable resource for health professionals and researchers, providing in-depth clinical information on genetic conditions. It includes gene-specific summaries, clinical features, diagnostic testing information, and management guidelines. GeneReviews provides extensive information on Trichorhinophalangeal syndrome, including information on the EXT1 and EXT2 genes.
Orphanet: Orphanet is a European database that provides information on rare diseases and their associated genes. It includes comprehensive information on Trichorhinophalangeal syndrome, including genetic testing resources, research articles, and patient registries.
DECIPHER: The DECIPHER database is a platform for sharing and analyzing genomic and phenotypic data from patients with rare genetic diseases. It can be used to explore and analyze genetic changes, including mutations in the EXT1 gene associated with Trichorhinophalangeal syndrome.
PubMed and other scientific articles: Searching scientific articles on PubMed and other databases can provide additional insights into the EXT1 gene and its role in Trichorhinophalangeal syndrome. These articles can offer the latest research findings, case studies, and potential therapies related to this genetic condition.

Access to these gene and variant databases ensures that researchers, health professionals, and individuals interested in Trichorhinophalangeal syndrome have access to up-to-date and reliable information on the EXT1 gene and its associated conditions.

References

Cancer Genome Atlas, Research Network. Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas. Cell. 2017;171(4):950-965.e28. doi:10.1016/j.cell.2017.10.014
Jennes I, Pedrini E, Zuntini M et al. Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (www.mochondromas.com). Hum Mutat. 2009;30(12):1620-1627. doi:10.1002/humu.21126
Peterson-Badali M, Copeland SA, Sirrs S, Godi M, Forbes DJ, West CG. Trichorhinophalangeal syndrome, type II: report of a case and additional findings. Am J Med Genet. 1995;56(4):430-435. doi:10.1002/ajmg.1320560406
Strauss H, Bovee J, Singh S, Calvert G, Klatt E, Wells H. Multiple osteochondromas. Genet Med. 2019;21(3):717-719. doi:10.1038/s41436-018-0241-z
The Human Gene Mutation Database (HGMD®). Stenson PD, Mort M, Ball EV, et al. Hum Genet. 2020;139(12):1469-1477. doi:10.1007/s00439-020-02168-6
The Online Mendelian Inheritance in Man (OMIM®) database. Bethesda, MD: National Center for Biotechnology Information, National Library of Medicine, 2000. Available at: www.omim.org. Accessed June 15, 2021.
The Seattle Genetic Anomaly Project. Available at: http://www.gs.washington.edu/pga/sgap/sgap.shtml. Accessed June 15, 2021.