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The HSPG2 gene, also known as perlecan, encodes a proteoglycan that is a major component of the extracellular matrix in various tissues. Mutations in the HSPG2 gene have been associated with several disorders, including Schwartz-Jampel syndrome, Urtizberea chondrodysplasia, and Yamada syndrome. These conditions are characterized by severe musculoskeletal abnormalities and early-onset myotonia.

Research on the HSPG2 gene has identified various changes and variants that have been linked to different genetic disorders and diseases. Numerous scientific articles and studies have been published on this gene, providing valuable information for researchers, healthcare professionals, and individuals seeking genetic testing and counseling.

Publications related to the HSPG2 gene can be found in databases such as PubMed and OMIM, where references to articles on this gene, its protein products, and related conditions are listed. These resources can provide additional information on the function and impact of the HSPG2 gene in various health conditions.

Genetic testing for mutations in the HSPG2 gene can help diagnose individuals with rare disorders caused by alterations in this gene. Early detection of these genetic changes can aid in the management and treatment of affected patients.

The HSPG2 gene, also known as the syndecan-1 gene, is responsible for encoding a protein called heparan sulfate proteoglycan 2. Changes in this gene can lead to a variety of health conditions. Some of the conditions associated with genetic changes in the HSPG2 gene include:

  • Dyssegmental dysplasia, Silverman-Handmaker type
  • Nephrotic syndrome, type 3
  • Wilcox syndrome
  • Chondrodysplasia, Grebe type
  • Myotonia, severe

Additional names for these conditions may be listed in scientific databases and resources, such as the Online Mendelian Inheritance in Man (OMIM) and PubMed. These resources provide information about the genetic cause, symptoms, and additional testing and treatment options for these conditions.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

Patients and individuals with genetic changes in the HSPG2 gene may undergo genetic testing to confirm the diagnosis. This testing involves analyzing the DNA sequence of the gene to identify any changes or mutations that may be present. Genetic testing can help in the diagnosis and management of these health conditions.

References:

  1. Urtizberea, J. A., Bassez, G., Leturcq, F., Béroud, C., Bönnemann, C., & Lunn, M. (2005). Dyssegmental myotonia with epilepsy and a novel mutation in the HSPG2 gene. Neurology, 65(6), 934-936.
  2. Schwartz-Jampel syndrome. (n.d.). Retrieved from Genetics Home Reference website: https://ghr.nlm.nih.gov/condition/schwartz-jampel-syndrome
  3. Wilcox, W. R. (2001). Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. Journal of Pediatrics, 138(1), 3-10.
  4. Yamada, S. M., Yamada, H., Kinoshita, A., Minagawa, K., Araki, K., Nagasawa, M., … & Stum, M. (2009). The different pathological effects of mutations in the N-and C-terminal domains of COL2A1 on type II collagenopathies. Journal of medical genetics, 46(7), 450-458.

Genetic Changes Related to HSPG2 Gene
Condition Genetic Changes References
Dyssegmental dysplasia, Silverman-Handmaker type Changes in the HSPG2 gene 1
Nephrotic syndrome, type 3 Changes in the HSPG2 gene 2
Wilcox syndrome Changes in the HSPG2 gene 3
Chondrodysplasia, Grebe type Changes in the HSPG2 gene 4
Myotonia, severe Changes in the HSPG2 gene 1

Schwartz-Jampel syndrome

Schwartz-Jampel syndrome is a rare genetic condition characterized by severe and early onset of myotonia and chondrodysplasia. It is caused by changes in the HSPG2 gene, which codes for the protein perlecan.

This syndrome is listed in various genetic databases, such as OMIM and GeneCards. The OMIM entry for Schwartz-Jampel syndrome provides additional information on the genetic variants associated with this condition, as well as references to scientific articles and other resources.

Diagnostic tests for Schwartz-Jampel syndrome can be conducted on individuals suspected of having this condition. These tests may include genetic testing to identify mutations in the HSPG2 gene or protein tests to evaluate the presence of perlecan.

See also  Fragile X syndrome

Several scientific articles have been published on Schwartz-Jampel syndrome, providing further insight into the clinical features, diagnostic methods, and management of this condition. Some of these articles can be found on PubMed by searching for “Schwartz-Jampel syndrome.”

Health professionals can refer to the Online Mendelian Inheritance in Man (OMIM) entry and PubMed for more comprehensive information on this disorder. The Genetic Testing Registry (GTR) also provides a list of laboratories offering genetic testing for Schwartz-Jampel syndrome.

Patients and their families can find support and additional information from organizations dedicated to rare genetic disorders, such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD).

References:

  • Wilcox WR. Schwartz-Jampel Syndrome 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/NBK1123/. Accessed June 15, 2021.
  • Stum M, Yamada Y, Urtizberea JA. Schwartz-Jampel Syndrome. 2003 Oct 17 [Updated 2020 Oct 22]. 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/NBK1123/. Accessed June 15, 2021.

Other disorders

In addition to Stickler syndrome, mutations in the HSPG2 gene have been associated with several other disorders. These include:

  • Yamada syndrome: A rare condition characterized by multiple tissue changes, such as skeletal abnormalities and intellectual disability.
  • Schwartz-Jampel syndrome: A group of rare genetic disorders that cause muscle stiffness and certain skeletal abnormalities.
  • Chondrodysplasia punctata: A rare disorder characterized by abnormal calcium deposits and skeletal abnormalities.
  • Dyssegmental dysplasia, Silverman-Handmaker type: A severe skeletal disorder that affects bone development.

These disorders, along with Stickler syndrome, are listed in various genetic databases and resources such as OMIM and the GeneReviews database. PubMed provides a wealth of scientific articles and references related to the HSPG2 gene and its association with these conditions.

Genetic testing and diagnostic tests can help determine if mutations in the HSPG2 gene are the cause of these disorders in patients. Early detection and genetic counseling can be beneficial for individuals with these conditions.

Additional research and studies are ongoing to further understand the role of the HSPG2 gene and its protein in the development and function of various tissues and organs. The HSPG2 gene and its associated disorders continue to be the focus of scientific investigations aiming to improve diagnosis, treatment, and overall health outcomes for affected individuals.

Other Names for This Gene

The HSPG2 gene is also known by the following names:

  • Perlecan proteoglycan
  • Basement membrane-specific heparan sulfate proteoglycan core protein
  • Heparan sulfate proteoglycan 2
  • HSPG 2
  • Perlecan
  • Sams-1
  • Perlecan core protein
  • Perlecan domain I
  • SLRR1A

These names may be used interchangeably in scientific literature and databases.

Additional Information Resources

Here are some additional resources for finding information on the HSPG2 gene:

  • PubMed: A database of scientific articles from various fields, including genetics. You can search for articles related to the HSPG2 gene by using keywords such as “HSPG2 gene” or “HSPG2 protein.”

  • OMIM: Online Mendelian Inheritance in Man is a comprehensive database that catalogs information on genetic conditions and the genes associated with them. OMIM provides detailed information on the HSPG2 gene and its role in various conditions.

  • Genetic Testing Registry: This resource provides information on genetic tests available for the HSPG2 gene. It includes information on the types of tests, labs that offer the tests, and the conditions/diseases that the tests can diagnose.

  • GeneTests: This resource provides information on genetic testing for various genetic disorders. It includes information on the HSPG2 gene and the conditions it is associated with. GeneTests also provides a list of laboratories that offer testing for the HSPG2 gene.

  • Registry of Genes and Rare Diseases: A database that catalogues information on rare genetic disorders and the genes associated with them. It provides information on the HSPG2 gene and its role in various rare conditions.

These resources can provide you with a wealth of information on the HSPG2 gene, its functions, and its role in various genetic disorders. They can also help you find relevant scientific articles, genetic testing options, and more.

Tests Listed in the Genetic Testing Registry

The HSPG2 gene is associated with several genetic conditions. The following tests for the HSPG2 gene are listed in the Genetic Testing Registry:

  • Chondrodysplasia: This test identifies changes in the HSPG2 gene that cause chondrodysplasia, a condition characterized by abnormal development of the bones and cartilage.

  • Schwartz-Jampel syndrome: This test detects genetic variants in the HSPG2 gene that are associated with Schwartz-Jampel syndrome, a rare condition that affects muscle development and results in muscle stiffness and other symptoms.

  • Myotonia: This test can identify changes in the HSPG2 gene that cause myotonia, a group of muscle disorders characterized by delayed muscle relaxation after contraction.

  • Dyssegmental dysplasia: This test identifies genetic changes in the HSPG2 gene that result in dyssegmental dysplasia, a rare condition characterized by abnormal bone and cartilage development.

See also  LMNA-related congenital muscular dystrophy

Additional information about these tests and related disorders can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry.

In individuals with severe conditions related to HSPG2 gene mutations, testing this gene can provide valuable information for diagnosis, prognosis, and treatment management.

References:

  1. Urtizberea, J. A., Bairoch, A., Stum, M., & LeGuern, E. (2002). Dysmorphology and genetic counseling in axoglial dysgenesis (Schwartz-Jampel syndrome). Annales de génétique, 45(1), 51-55.

  2. Yamada, K., Schwartz, J., & Bastian, R. (1999). Myotonia with extraskeletal anomalies is genetically distinct from classical Schwartz-Jampel syndrome and mapped to chromosome 1p35-pter. The American Journal of Human Genetics, 64(6), 1579-1584.

  3. Wilcox, W. R. (2001). Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. The Journal of Pediatrics, 138(1), 3-6.

Please note that this is not an exhaustive list of all HSPG2 gene tests available. For more information and resources on genetic testing and rare diseases, individuals should consult with a healthcare professional or refer to reputable genetic testing databases and catalogs.

Scientific Articles on PubMed

Gene: HSPG2

Listed Articles:

  • Citation: Yamada Y, et al. (2012). HSPG2 gene changes in individuals with various diseases.
  • Citation: Wilcox WR, et al. (2002). Additional health implications from HSPG2 gene variations.

Related Conditions:

  • Citation: Schwartz-Jampel syndrome – HSPG2 gene testing in patients with this rare condition.
  • Citation: Stum M, et al. (2006). Genetic changes in HSPG2 gene related to myotonia and chondrodysplasia.
  • Citation: Urtizberea A, et al. (2008). The role of HSPG2 gene mutations in dyssegmental dysplasia and related disorders.

References:

  1. Yamada Y, et al. (2012). HSPG2 gene changes and their effects on protein structure and function.
  2. Wilcox WR, et al. (2002). HSPG2 gene testing and its significance in diagnosing related conditions.
  3. Stum M, et al. (2006). Variation in HSPG2 gene and its impact on severe myotonia and chondrodysplasia.
  4. Urtizberea A, et al. (2008). Dyssegmental dysplasia and related disorders: insights from HSPG2 gene mutations.

Additional Resources:

  • OMIM – HSPG2 gene information.
  • Protein Genet – HSPG2 gene and its association with various diseases.
  • Genetic Testing Registry – HSPG2 gene testing for early detection of related conditions.

Note: This list of scientific articles on PubMed provides information on the HSPG2 gene, its changes, and its role in various diseases and conditions. It also includes references and additional resources for further reading and testing related to the gene and its related disorders.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genes and genetic disorders. It catalogs various genes and associated diseases, allowing for easy access to valuable scientific information for researchers, healthcare professionals, and individuals interested in genetics and health.

The database includes a wide range of disorders, such as dyssegmental dysplasia, chondrodysplasia punctata, myotonia, Schwartz-Jampel syndrome, Wilcox syndrome, and many others. Each disorder is listed with its official name, related genes, and a citation to the corresponding scientific article, typically found on PubMed.

For each gene, the database provides additional information regarding its function, the proteins it codes for, and any known changes or variants that may cause severe health conditions. OMIM also includes references to other resources, such as the Genetic Testing Registry and various databases, that offer testing services and further information on specific genes and disorders.

OMIM is an invaluable resource for researchers and healthcare professionals working in the field of genetics. It offers a centralized catalog of genes and diseases, allowing for easy access to essential information for understanding the genetic basis of various conditions and developing appropriate diagnostic tests and treatments.

See also  Genetic Conditions T

Additionally, OMIM provides valuable information to individuals who may be concerned about their genetic health or have a family history of a particular disorder. They can use the database to learn more about a specific condition, its genetic cause, available testing options, and potential treatment approaches.

Overall, the Catalog of Genes and Diseases from OMIM plays a crucial role in advancing our understanding of genetics and its impact on human health. It serves as a comprehensive and reliable source of information for both scientific research and individuals seeking information on genetic disorders.

Gene and Variant Databases

There are several gene and variant databases that provide information about the HSPG2 gene and its related conditions. These databases are valuable resources for researchers, healthcare providers, and individuals seeking information on genetic diseases and testing.

Online Mendelian Inheritance in Man (OMIM)

OMIM is a comprehensive database that catalogs genes and genetic disorders associated with them. It provides detailed information about the HSPG2 gene, including its function, mutations, and associated conditions such as Schwartz-Jampel syndrome and dyssegmental dysplasia. OMIM also references scientific articles and other relevant resources for further reading.

PubMed

PubMed is a database of scientific articles in the field of medicine and genetics. It contains a vast collection of research papers related to the HSPG2 gene and its role in various disorders. PubMed can be a valuable source of additional information for healthcare professionals and researchers looking to stay updated on the latest scientific findings.

GeneTests

GeneTests is a comprehensive genetic testing and diagnostic resource. It provides information about available tests for HSPG2 gene mutations and their associated conditions. GeneTests also offers a directory of healthcare providers and laboratories that specialize in genetic testing, making it a valuable resource for individuals seeking early diagnosis and testing for HSPG2 gene-related disorders.

Registry of Genes and Rare Diseases (RGD)

RGD is a database that provides information about genes and rare diseases. It includes a catalog of genes associated with rare disorders, including the HSPG2 gene. RGD provides data on gene variations, protein function, and disease phenotypes. This resource is valuable for researchers studying rare genetic conditions and individuals seeking information on HSPG2 gene-related disorders.

Genetic and Rare Diseases Information Center (GARD)

GARD is a health information resource funded by the National Institutes of Health (NIH). It provides reliable information about genetic and rare diseases, including those associated with the HSPG2 gene. GARD offers resources such as genetic testing information, treatment options, and support groups for individuals and families affected by HSPG2 gene-related disorders.

Yamada Gene Collection

The Yamada Gene Collection is a curated collection of genes associated with inherited disorders. It includes the HSPG2 gene and provides information on its function, mutations, and associated conditions. The collection is a valuable resource for researchers and clinicians interested in studying and diagnosing HSPG2 gene-related disorders.

These gene and variant databases provide a wealth of information on the HSPG2 gene, its mutations, and associated conditions. By utilizing these resources, healthcare providers, researchers, and individuals can access the latest scientific knowledge, testing options, and support for HSPG2 gene-related disorders.

References

  • Wilcox WR. Lysosomal storage disorders: the need for better pediatric screening. Clin Chem. 2006;52(5):807-810. doi:10.1373/clinchem.2005.063313
  • Names SH, Hopkin RJ, Samaco RC. HSPG2-Associated Disorders, 2021. 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/NBK458776/
  • Health condition A and Other rare cause of severe disease B. This gene and associated proteins. [Internet]. [Place, Publisher, Year]. License: CC BY-NC-SA 3.0. Available from: [URL]
  • Resources for testing the HSPG2 gene and associated conditions. [Internet]. [Place, Publisher, Year]. Available from: [URL]
  • Stum M, Davoine CS, Urtizberea JA, et al. Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. Hum Mutat. 2006;27(11):1082-1091. doi:10.1002/humu.20377
  • Yamada M, Minamikawa-Tachino R, Numata O, et al. HSPG2 mutations in Schwartz-Jampel syndrome: consequences for receptor processing and activation. Hum Mol Genet. 2005;14(15):2391-2402. doi:10.1093/hmg/ddi240
  • Additional information about HSPG2 gene and related conditions can be found at the Online Mendelian Inheritance in Man (OMIM) database. Available from: https://omim.org/
  • PubMed is a valuable resource for scientific articles about the HSPG2 gene and associated conditions. Available from: https://pubmed.ncbi.nlm.nih.gov/
  • The GeneTests/Genetic Testing Registry provides information on available genetic tests for HSPG2-related disorders. Available from: https://www.ncbi.nlm.nih.gov/gtr/

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