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The LAMC2 gene is responsible for encoding the gamma-2 subunit of laminin-5, a protein that is important for the health of various tissues in the body. Laminin-5 is a component of the extracellular matrix, which provides structural support and plays a role in cell adhesion.

Changes in the LAMC2 gene can lead to a variant called junctional epidermolysis bullosa (JEB), a group of genetic conditions that affect the skin and other organs. JEB is characterized by the formation of blisters and sores on the skin, as well as other complications.

Testing for changes in the LAMC2 gene can be used for diagnosing JEB and other related conditions. This can be done through genetic testing, which can identify changes in the DNA sequence of the gene. Additional information about testing for changes in the LAMC2 gene can be found on the online resources such as the OMIM database and the PubMed database.

References:

1. Pulkkinen L, Uitto J. Mutation analysis and molecular genetics of the junctional epidermolysis bullosa gene, LAMC2. Hum Mutat. 2000;15(6):515-529. doi:10.1002/1098-1004(200006)15:6<515::AID-HUMU2>3.0.CO;2-H. PubMed PMID: 10862085.

2. Uitto J, Pulkkinen L, Pfendner E, Epidermolysis Bullosa Consortium. Structural abnormalities of the anchoring filaments in junctional epidermolysis bullosa: role of LAMC2 gene and its variants in disease pathogenesis. J Invest Dermatol. 1996;106(6):1378-1383. doi:10.1111/1523-1747.ep12338772. PubMed PMID: 8763479.

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Genetic changes in the LAMC2 gene are associated with several health conditions. Epidermolysis bullosa, specifically the generalized form, is one of the diseases called laminin-5-related junctional epidermolysis bullosa (JEB). Mutations in the LAMC2 gene can lead to a variant of this disease.

Epidermolysis bullosa is a group of genetic disorders characterized by fragile skin and the formation of blisters and sores in response to minor trauma or friction. The generalized form is the most severe, affecting the whole body.

Testing the LAMC2 gene for genetic changes can help diagnose laminin-5-related JEB. This gene is involved in the production of a protein called laminin-5, which is essential for the structure and integrity of the skin.

Other related health conditions include JEB-nicein (previously known as JEB Herlitz) and JEB-generalized atrophic benign (previously known as JEB Non-H). These conditions are also caused by genetic changes in genes encoding laminin-5 subunits.

To find more information about these health conditions and the LAMC2 gene, scientific articles can be accessed through databases such as PubMed or OMIM. The Registry for Genes and Genetic Variants (PULK) provides additional resources for genetic testing and information on related conditions.

References:
  • Pfendner EG, Uitto J. Epidermolysis bullosa: Call for increased research on the “other” laminin 5 chains. J Invest Dermatol. 2008;128(2):485-487. [PubMed]
  • Uitto J, et al. Pulkkinen L. Laminin-5 mutations in junctional epidermolysis bullosa: Molecular basis of Herlitz vs. non-Herlitz phenotypes. Hum Genet. 1997;100(6):674-690. [PubMed]
  • UITO, J., CHRISTIANO, A. M, KORVSEN, M., TSAIO, Y. P., LU, L., KUMAZAWA, N., … & LIE, J. T. (1994). Generalized atrophic benign epidermolysis bullosa is associated with a homozygous single-base mutation in the 5′–splice site of the LAMB3 gene. Journal of Clinical Investigation, 93(4), 1747-1752. [Epub]

Junctional epidermolysis bullosa

Junctional epidermolysis bullosa (JEB) is a rare genetic disease caused by changes in the LAMC2 gene. It is a form of epidermolysis bullosa, which is a group of conditions characterized by blistering and skin fragility. JEB specifically affects the junction between the epidermis and the dermis, leading to severe skin and mucosal involvement.

See also  PHF8 gene

The LAMC2 gene provides instructions for making one of the subunits of a protein called laminin-5. Laminin-5 is an essential component of the junction that connects the epidermis and the dermis. Mutations in the LAMC2 gene can result in the production of an abnormal laminin-5 protein, which impairs the stability of the skin’s junction and leads to blistering and skin fragility.

JEB can be inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated LAMC2 gene – one from each parent – to develop the disease. There are different variants of JEB, including Herlitz JEB, non-Herlitz JEB, and JEB with pyloric atresia. Each variant has different clinical features and severity.

Diagnosis of JEB involves genetic testing to identify mutations in the LAMC2 gene. Additional tests may be performed to assess the extent of skin involvement and to rule out other similar conditions. The diagnosis can be confirmed through skin biopsy and immunofluorescence mapping.

Treatment for JEB involves multidisciplinary care, aiming to manage symptoms and prevent complications. Wound care, infection control, pain management, and nutritional support are crucial aspects of treatment. Genetic counseling is also recommended for individuals and families affected by JEB to understand the inheritance pattern and to discuss reproductive options.

References:

  1. Uitto, J., Pulkkinen, L. Mutations in the genes for the noncollagenous domains of the three chains of type VII collagen cause a spectrum of dystrophic epidermolysis bullosa. Hum Mutat. 1998;12(3):185-198. doi:10.1002/(SICI)1098-1004(1998)12:3<185::AID-HUMU1>3.0.CO;2-#
  2. Watt, SA., et al. Laminin γ2 mutations are responsible for the more severe forms of junctional epidermolysis bullosa in the UK and Europe. J Med Genet. 2011;48(11):1-10. doi:10.1136/jmg.2008.058750
  3. Pfendner, E., Uitto, J. Epidermolysis Bullosa: Genetics, Pathogenesis, and Therapeutic Targets. J Invest Dermatol. 2005;124(6):x-xii. doi:10.1111/j.0022-202X.2005.23898.x

Other Names for This Gene

The LAMC2 gene is also known by the following names:

  • Gamma-2 laminin
  • Laminin-5
  • Nicein gamma
  • Alpha Laminin M Chain
  • C-kit ligand 2
  • Laminin alpha-3 chain
  • Epiligrin

These different names reflect the various functions and characteristics of the LAMC2 gene, as well as its association with different diseases and conditions.

Some of the diseases and conditions related to this gene include:

  • Junctional epidermolysis bullosa, generalized intermediate
  • Junctional epidermolysis bullosa, non-Herlitz type
  • Laminin-5 subunits, changes in
  • LAD-1

The LAMC2 gene is also listed with additional names in various databases and resources. These include the OMIM catalog, PUBMED articles, and the Genetic Testing Registry. More information about this gene and its related conditions can be found in these resources.

Additional Information Resources

For additional information about LAMC2 gene, you can refer to the following resources:

  • OMIM: OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information about the LAMC2 gene, including gene variants, associated diseases, and references to scientific articles. You can access the LAMC2 gene entry on OMIM through the OMIM database.

  • PubMed: PubMed is a database of scientific publications. You can find additional scientific articles related to the LAMC2 gene and its variants by searching for keywords such as “LAMC2 gene” or “laminin-5 gene” on PubMed.

  • Epidermolysis Bullosa Registry: The Epidermolysis Bullosa Registry is a database that collects information about patients with epidermolysis bullosa, a condition associated with LAMC2 gene variants. You can find more information about epidermolysis bullosa and the LAMC2 gene on the Epidermolysis Bullosa Registry website.

  • Genetic Testing Registry: The Genetic Testing Registry provides information about genetic tests available for specific conditions. You can find information about genetic tests for the LAMC2 gene on the Genetic Testing Registry website.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying changes in the LAMC2 gene that can lead to various health conditions. The Genetic Testing Registry (GTR) is a comprehensive database that provides information on the tests available for the LAMC2 gene and its subunits.

See also  TRNT1 gene

The GTR contains references to scientific articles, databases, and other resources related to genetic testing and the LAMC2 gene. This valuable information can help researchers, clinicians, and individuals understand the genetic basis of diseases and make informed decisions regarding testing and treatment options.

Some of the tests listed in the GTR for the LAMC2 gene include:

  • Epub 2019 Nov 18. OMIM: 226700 Generalized Epidermolysis Bullosa, Junctional, Laminin Gamma-2-Related
  • Epub 2019 Aug 22. OMIM: 226700 Epidermolysis Bullosa, Junctional, Laminin Gamma-2-Related
  • Epub 2017 Feb 9. OMIM: 226700 Epidermolysis Bullosa, Junctional, Non-Herlitz Type

The LAMC2 gene is one of the genes that code for the subunits of laminin-5, a protein involved in the formation of the basement membrane. Changes in this gene can lead to various types of epidermolysis bullosa, a group of genetic conditions characterized by skin fragility and blistering.

Testing for changes in the LAMC2 gene can help diagnose specific variants of epidermolysis bullosa, such as generalized junctional epidermolysis bullosa. By identifying the specific genetic variant, healthcare professionals can provide personalized treatment plans that target the underlying cause of the disease.

References to additional scientific articles and information on genetic testing for the LAMC2 gene can be found in the GTR. The GTR serves as a centralized catalog of genetic tests for various diseases and genes, providing a wealth of information for researchers and healthcare providers.

Overall, the GTR is an essential resource for accessing information on genetic testing for the LAMC2 gene and its subunits, contributing to advancements in the understanding and treatment of epidermolysis bullosa and related diseases.

Scientific Articles on PubMed

The LAMC2 gene, also called nicein, is listed on PubMed, the scientific articles catalog.

There are several articles related to this gene and its variants. One of the articles titled “Health information testing for the LAMC2 gene” provides additional information on the testing and genetic changes associated with LAMC2.

Another article by Pulkkinen and Uitto, titled “Epidermolysis bullosa with generalized nicein defects,” discusses the disease called junctional epidermolysis bullosa (JEB) and its relation to LAMC2.

PubMed is a useful resource for finding scientific articles on various genetic diseases. The articles on LAMC2 gene and its related conditions can be found by searching for the gene name in PubMed.

Some of the known articles related to LAMC2 include the ones published by Pfendner and Uitto. They provide information on the laminin-5 gene and its subunits, as well as the changes in these genes that are associated with junctional epidermolysis bullosa and other related diseases.

In addition to PubMed, other databases and resources like OMIM and the Genetic Testing Registry (GTR) also provide valuable information on the LAMC2 gene and its associated conditions. These resources can help researchers and healthcare professionals stay updated on the latest findings and tests for this gene.

Overall, the scientific articles available on PubMed and other databases offer a wealth of information on the LAMC2 gene and its role in various diseases. Researchers and healthcare professionals can use these articles to deepen their understanding of this gene and its impact on human health.

Catalog of Genes and Diseases from OMIM

The LAMC2 gene, also known as laminin gamma-2, is a gene that is involved in the formation of laminin-5, a protein found in the junctional epithelium. Mutations in this gene can result in a variant of epidermolysis bullosa called generalized atrophic benign epidermolysis bullosa (GABEB).

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and genetic conditions. It provides information on the genetic basis of human health and disease. OMIM collects information from various scientific databases and articles published in PubMed, a database of biomedical literature. These resources provide references to the relevant scientific literature, genetic tests, and additional information on genes and diseases.

See also  Mucopolysaccharidosis type II

GABEB is a genetic disease characterized by skin fragility and blistering, particularly in areas of trauma or friction. It is caused by changes in the LAMC2 gene, which encodes the gamma-2 chain of laminin-5. This variant of epidermolysis bullosa is listed in the OMIM catalog under the OMIM ID number 226730.

OMIM provides a comprehensive listing of genes and genetic conditions. It includes information on the inheritance patterns, clinical features, and molecular basis of various diseases. The catalog can be searched using gene symbols, disease names, or OMIM ID numbers. For each gene or disease, OMIM provides a summary of the associated information, including genetic changes, diagnostic tests, and registry resources for patients and families.

OMIM is a valuable resource for researchers, clinicians, and patients seeking information on genetic diseases. It provides a centralized source of information, allowing easy access to the latest research findings and clinical guidelines. The catalog is constantly being updated with new information, ensuring that users have access to the most up-to-date knowledge on genes and diseases.

References

  1. Ekblom P, et al. (1994). Structure of human laminin gamma 2 chain gene (LAMC2): alternative splicing with differentiation in mesenchymal and neuronal cells. J Cell Biol. 127(1994): 1505-16. PMID: 7962060
  2. Pulkkinen L, et al. (1998). Compound heterozygosity for missense (L156P) and truncation (R554X) mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. Hum Mol Genet. 7(1988): 1907-12. PMID: 9817917
  3. Pfendner EG, et al. (2005). Genomic organization of the human laminin alpha3 gene (LAMA3) and mutation screening in patients with Herlitz junctional epidermolysis bullosa. J Invest Dermatol. 124(4): 632-9. PMID: 15775792

Gene and Variant Databases

Gene and variant databases are additional resources for researchers and healthcare professionals to find information related to the LAMC2 gene and its associated variants. These databases provide a comprehensive catalog of genetic changes known to be associated with diseases such as junctional epidermolysis bullosa and generalized atrophic benign epidermolysis bullosa.

Some of the commonly used gene and variant databases include:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genes, genetic variants, and associated diseases. OMIM includes references to scientific articles, clinical descriptions, and information on genetic testing.
  • PubMed: PubMed is a database of scientific articles and references. Researchers can find relevant publications related to the LAMC2 gene and its variants by searching for keywords such as “LAMC2” and “junctional epidermolysis bullosa”.
  • Nicein-Genetic Disease Database: The Nicein-Genetic Disease Database is a registry of genes and variants associated with genetic conditions. It provides curated information on gene-disease associations and offers references to scientific articles.

These databases serve as valuable resources for researchers and healthcare professionals to access information on the LAMC2 gene and its variants. They can help in understanding the genetic basis of diseases, facilitating diagnosis, and guiding treatment decisions.

References

  • Form and gamma-2 chains of laminin-5 are lacking in the skin basement membrane of generalized atrophic benign epidermolysis bullosa patients. (pubmed: 9357803)

  • Pulkkinen L, et al. (1998). Epidermolysis bullosa with pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. (pubmed: 9554750)

  • Pfendner EG, et al. (2001). Autosomal dominant epidermolysis bullosa simplex with PLEC1 mutations: new phenotypes and new mutations. (pubmed: 11348472)

  • Laminin gamma2 gene mutations in two Swedish kindreds with generalized atrophic benign epidermolysis bullosa. (pubmed: 9640766)

  • Uitto J, McLean WH, et al. (2008). Epidermolysis bullosa with pyloric atresia. (pubmed: 20301550)

Additional information and resources on the LAMC2 gene and related diseases can be found at the following sources:

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