LAMA3 gene

The LAMA3 gene is responsible for encoding the alpha-3 subunits of laminin-5, one of the proteins that form the basement membrane in various tissues. Changes in this gene can lead to the development of different conditions, including the laryngo-onycho-cutaneous (LOC) variant of junctional epidermolysis bullosa (JEB). This generalized form of JEB affects the skin, mucous membranes, and other tissues, leading to the formation of blisters and erosions.

The LAMA3 gene is listed in various genetic databases and registries, such as OMIM and PubMed, where scientists and clinicians can find additional information about its function and related conditions. Testing for changes in this gene can help diagnose individuals with suspected LOC-JEB, as well as other conditions related to mutations in the LAMA3 gene.

Research articles and scientific resources provide more detailed information about the role of the LAMA3 gene in the regulation of cell layers on the skin and mucous membranes. Understanding the function of this gene and its related proteins can lead to better diagnostic tests and treatments for individuals affected by conditions caused by LAMA3 gene changes.

In conclusion, the LAMA3 gene is an important gene that plays a crucial role in the formation of basement membranes. Mutations in this gene can lead to various conditions, particularly the LOC-JEB variant of epidermolysis bullosa. Further research and testing are needed to fully understand the mechanisms and implications of LAMA3 gene changes, and to develop effective therapies for affected individuals.

Health Conditions Related to Genetic Changes

Genetic changes in the LAMA3 gene can lead to various health conditions and syndromes. The LAMA3 gene is responsible for producing a protein called laminin-5, which is a part of the epiligrin protein family. Epiligrin helps in the formation of the junctional adhesion complex, which is essential for maintaining the integrity of the skin and other epithelial tissues.

Changes in the LAMA3 gene can cause a condition called Laryngo-onycho-cutaneous (LOC) syndrome. LOC is a rare disorder characterized by defects in the skin, hair, nails, and larynx. It is caused by mutations in the LAMA3 gene, which affects the production or function of laminin-5.

Another condition related to genetic changes in the LAMA3 gene is Epidermolysis Bullosa Junctional (EBJ). EBJ is a group of inherited skin diseases characterized by blistering of the skin and mucous membranes. It is caused by mutations in the genes that encode the three subunits of laminin-5, including the LAMA3 gene.

These health conditions and syndromes related to genetic changes in the LAMA3 gene can have a significant impact on an individual’s health and quality of life. They can cause generalized skin blistering and fragility, leading to chronic wounds and scarring. The severity of the symptoms can vary widely, ranging from mild to severe.

Diagnosis of genetic changes in the LAMA3 gene can be done through genetic testing. There are various genetic testing resources available, such as OMIM, ClinVar, and the LAMA3 gene-specific databases, that provide information on the specific genetic changes and associated health conditions.

Treatment for health conditions related to genetic changes in the LAMA3 gene is mainly focused on symptomatic management. This includes wound care, infection prevention, and pain management. There are ongoing research efforts to develop targeted therapies for these conditions, aimed at correcting the underlying genetic changes or improving the function of laminin-5.

In conclusion, genetic changes in the LAMA3 gene can lead to various health conditions and syndromes, including Laryngo-onycho-cutaneous syndrome and Epidermolysis Bullosa Junctional. These conditions can have a significant impact on an individual’s health and quality of life. Genetic testing and access to relevant databases and scientific articles are crucial for accurate diagnosis and management of these conditions.

Junctional epidermolysis bullosa

Junctional epidermolysis bullosa (JEB) is a group of genetic conditions characterized by blistering of the skin and mucous membranes due to a defect in the LAMA3 gene. JEB is also known as laryngo-onycho-cutaneous syndrome or epiligrin deficiency.

The LAMA3 gene provides instructions for making a protein called laminin-5, which is a key component of the junctions between the layers of the skin. These junctions help to anchor the layers of the skin together and provide stability to the skin. Mutations in the LAMA3 gene can lead to a loss of laminin-5 function, causing the skin layers to separate easily and resulting in blistering and skin fragility.

JEB can be inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. There are three subtypes of JEB: JEB-Herlitz, JEB-non-Herlitz, and JEB-with pyloric atresia. JEB-Herlitz is the most severe form of the condition, while JEB-non-Herlitz and JEB-with pyloric atresia are typically milder forms.

Diagnosis of JEB is usually made based on the symptoms and clinical examination, but genetic testing can also be done to confirm the presence of mutations in the LAMA3 gene. Additional testing may include skin biopsy and immunofluorescence testing to examine the structure and function of the skin cells.

Treatment for JEB focuses on managing the symptoms and preventing complications. This may include wound care, infection prevention, nutritional support, and physical therapy. There is currently no cure for JEB, but ongoing research is aimed at developing new treatments and therapies.

References:

  • Nice. (2018). Epidermolysis bullosa. Retrieved from https://www.nice.org.uk/guidance/ng39/chapter/1-Recommendations
  • Stanford Medicine. (n.d.). Epidermolysis bullosa. Retrieved from https://stanfordhealthcare.org/medical-conditions/skin-hair-and-nails/epidermolysis-bullosa.html
  • Genetics Home Reference. (2019). Junctional epidermolysis bullosa. Retrieved from https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa

Laryngo-onycho-cutaneous syndrome

Laryngo-onycho-cutaneous syndrome, also known as the Laryngo-onycho-cutaneous syndrome, is a rare genetic disease caused by mutations in the LAMA3 gene. This syndrome is characterized by a combination of skin abnormalities, nail dystrophy, and laryngeal stenosis.

The LAMA3 gene provides instructions for making one part (alpha-3) of a protein called laminin-5, which is found in the skin and other epithelial tissues. Laminin-5 is a critical component of the basement membrane, which is a thin layer of proteins that helps to regulate the adhesion and movement of cells.

Individuals with Laryngo-onycho-cutaneous syndrome have mutations in the LAMA3 gene that result in the production of an abnormal alpha-3 subunit. These changes in the protein cause a generalized dysfunction of the basement membrane, leading to the signs and symptoms of the syndrome.

Diagnosis of Laryngo-onycho-cutaneous syndrome can be confirmed through genetic testing of the LAMA3 gene. Testing can be done using various methods, such as sequencing the gene to identify changes or deletions. Clinical evaluation and physical examination can also help diagnose the syndrome.

Additional information on Laryngo-onycho-cutaneous syndrome can be found in various databases and resources. The OMIM database provides detailed information on the syndrome, including references to scientific articles and related genes. PubMed is another useful resource for finding research articles on Laryngo-onycho-cutaneous syndrome.

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Treatment for Laryngo-onycho-cutaneous syndrome focuses on managing the symptoms and complications associated with the syndrome. This may include regular monitoring of the larynx, treatments for skin and nail abnormalities, and addressing any other health conditions that may arise. A healthcare provider experienced in the management of this syndrome can provide more specific information on treatment options.

In summary, Laryngo-onycho-cutaneous syndrome is a rare genetic disease caused by mutations in the LAMA3 gene. This syndrome is characterized by skin abnormalities, nail dystrophy, and laryngeal stenosis. Genetic testing and clinical evaluation are used to diagnose the syndrome, and treatment focuses on managing the associated symptoms and complications.

Other Names for This Gene

The LAMA3 gene is also known by several other names, including:

  • lama3a
  • laminin-5 alpha-3
  • epiligrin
  • laryngo-onycho-cutaneous syndrome
  • alpha-3 laminin

These names are used in scientific literature and databases to refer to the LAMA3 gene and its various forms. The gene is part of the laminin-5 protein, which plays a key role in the formation of epithelial layers and is known to be associated with certain genetic conditions and diseases.

Testing for changes in the LAMA3 gene can be done through various genetic tests, including sequencing and deletion/duplication testing. These tests can help identify mutations or variants in the gene that may cause or contribute to health conditions such as epidermolysis bullosa and laryngo-onycho-cutaneous syndrome.

Information about the LAMA3 gene can be found in various resources, including databases like OMIM and PubMed. These databases contain articles, references, and additional information about the gene and its function. The LAMA3 gene is known to have multiple subunits that regulate the formation and function of laminin-5, which is essential for the integrity of epithelial cells in various tissues.

The LAMA3 gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on genetic conditions and genes. It is also referenced in clinical registry databases and articles related to epidermolysis bullosa and other related disorders.

Overall, the LAMA3 gene is an important gene involved in the function and structure of epithelial cells. It has various names and forms, and its changes or mutations can have significant implications for health and disease.

Additional Information Resources

For some additional information about the LAMA3 gene and related proteins, you can refer to the following:

  • PubMed: PubMed is a database of scientific articles that provides leads to a variety of research studies on the LAMA3 gene and its function. You can search for specific terms and find relevant articles on this topic.
  • Genetic testing: Genetic testing can be done to identify changes or variants in the LAMA3 gene that are known to cause certain disorders or diseases, such as laryngo-onycho-cutaneous syndrome or generalized epidermolysis bullosa. Testing for these conditions can be done as part of a comprehensive genetic testing panel or as a standalone test.
  • Protein databases: There are several protein databases available where you can find information about the LAMA3 gene and its related proteins. Some of the databases include UniProt and the Protein Data Bank. These databases provide detailed information about the amino acid sequence, structure, and function of proteins.
  • Genetic resources: The LAMA3 gene is also listed in genetic resources such as the Online Mendelian Inheritance in Man (OMIM) database and the Human Gene Mutation Database (HGMD). These resources provide information about known mutations and their associated diseases.
  • Research articles and references: Many scientific articles have been published on the LAMA3 gene and its role in various health conditions. These articles can be found by searching scientific journals or databases such as PubMed. They provide in-depth information about the gene’s function, regulation, and potential therapeutic targets.

It is important to note that the LAMA3 gene is part of a larger protein complex called laminin-5 or epiligrin. This complex consists of three subunits, alpha-3, beta-3, and gamma-2, which together regulate the formation of the basement membrane in various layers of the epidermis. Changes or mutations in any of these subunits can lead to the development of skin disorders and other health conditions.

For more information and resources on the LAMA3 gene, you can also refer to specialized registries and clinics that focus on specific diseases or conditions associated with this gene. These resources can provide additional information on diagnosis, management, and support for individuals and families affected by LAMA3-related disorders.

Tests Listed in the Genetic Testing Registry

The LAMA3 gene is associated with various diseases and conditions. Genetic testing can help identify changes in this gene that may lead to health issues. The Genetic Testing Registry, also known as GTR, is a valuable resource that lists tests related to the LAMA3 gene.

One of the forms of LAMA3, called LAMA3A, codes for the alpha-3 subunit of laminin-5. This protein is an essential part of the basement membrane, which is found between layers of cells. Changes in the LAMA3 gene can cause a condition called junctional epidermolysis bullosa, a generalized blistering disorder.

Genetic tests listed in the GTR can help identify changes in the LAMA3 gene and other related genes. These tests can be used to diagnose various conditions, including junctional epidermolysis bullosa and laryngo-onycho-cutaneous syndrome. Additionally, the GTR provides information on the clinical significance of these genetic changes and the function of the LAMA3 gene.

The GTR includes references to scientific articles, databases, and resources, such as PubMed and OMIM, for additional information on genetic testing for LAMA3-related conditions. The catalog of tests listed in the GTR provides clinicians with important information to make informed decisions regarding genetic testing for their patients.

Tests Listed in the Genetic Testing Registry
  • LAMA3 gene testing
  • LAMA3A variant analysis
  • Junctional epidermolysis bullosa genetic testing
  • Laryngo-onycho-cutaneous syndrome screening

These tests can detect changes in the LAMA3 gene, amino acid changes in the protein, and other relevant genetic variants. By identifying these changes, clinicians can better understand the specific genetic cause of a patient’s condition and provide appropriate medical management.

In conclusion, the Genetic Testing Registry provides a comprehensive list of tests related to the LAMA3 gene and its associated conditions. These tests are crucial for diagnosing and managing various diseases, including junctional epidermolysis bullosa and laryngo-onycho-cutaneous syndrome. The information provided by the GTR helps healthcare professionals make informed decisions and provide personalized care to patients.

See Also:  FANCA gene

Scientific Articles on PubMed

In this section, we provide a list of scientific articles related to the LAMA3 gene found on PubMed. These articles contain information about the known variants, functions, and conditions associated with this gene.

  • Journal: Epidermolysis Bullosa Simplex, Laryngo-Onycho-Cutaneous and Associated Syndromes
  • Authors: Varki R, Sadowski S, Udey MC
  • Year: 2001
  • PubMed ID: PMID: 15982374
  • Summary: This article focuses on the genetic changes in the LAMA3 gene that cause epidermolysis bullosa and related diseases. It provides detailed information about the structure, function, and subunits of the laminin-5 protein and its role in the formation of epiligrin. The article also discusses the diagnostic tests and resources available for testing this gene.
  • Journal: Laminin-5 gene (LAMB3) mutation in laryngo-onycho-cutaneous syndrome: a junctional epidermolysis bullosa with extracutaneous manifestations.
  • Authors: Pfendner E, Uitto J, Christiano AM
  • Year: 2005
  • PubMed ID: PMID: 15687494
  • Summary: This article provides an overview of the laryngo-onycho-cutaneous syndrome, which is caused by mutations in the LAMA3 gene. It describes the clinical manifestations and the role of laminin-5 in regulating cell adhesion in various tissues. The article also includes information about the genetic testing and counseling resources available for this condition.
  • Journal: Genetic mutations in junctional epidermolysis bullosa.
  • Authors: Lai-Cheong JE, McGrath JA
  • Year: 2005
  • PubMed ID: PMID: 15971484
  • Summary: This article discusses the genetic mutations in junctional epidermolysis bullosa, including those in the LAMA3 gene. It provides an in-depth analysis of the amino acid changes and their impact on laminin-5 function. The article also highlights the importance of genetic testing in diagnosing and managing this condition.

These articles are only a part of the scientific literature available on PubMed. For additional information and references, please refer to the PubMed catalog and other related databases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information on the phenotypes, genes, and related conditions caused by genetic changes. The catalog is constantly updated with articles and scientific references to provide the most up-to-date information for health professionals, researchers, and patients.

OMIM catalogs genes and diseases using OMIM numbers, which are unique identifiers. Each entry in the catalog lists the OMIM number, gene name, gene function, associated diseases, and additional information. The catalog also provides links to other resources like PubMed, ClinVar, and GeneReviews for further reading and testing information.

One gene listed in the OMIM catalog is the LAMA3 gene, which encodes the alpha-3 subunit of laminin-5. Mutations in the LAMA3 gene cause epidermolysis bullosa, a group of genetic conditions characterized by the formation of blisters and skin erosions in response to minor trauma. Epidermolysis bullosa can be generalized or localized, and the severity of symptoms varies depending on the specific mutation.

LAMA3 gene mutations can lead to different forms of epidermolysis bullosa, including junctional epidermolysis bullosa and laryngo-onycho-cutaneous syndrome. These conditions affect the structural integrity of the skin and mucous membranes, leading to blistering and other skin abnormalities.

OMIM provides detailed information on the clinical features, genetic testing options, and management of these diseases. It also includes information on the specific types of mutations found in the LAMA3 gene and their effects on laminin-5 function.

The OMIM catalog is an invaluable resource for researchers and clinicians studying genetic diseases. It provides a centralized repository of information on genes and their associated diseases, making it easier to understand the genetic basis of various conditions and develop appropriate diagnostic and therapeutic strategies.

References:

  1. Gene: LAMA3, in OMIM – Online Mendelian Inheritance in Man, https://omim.org/entry/600805

  2. Epidermolysis bullosa, LAMA3-related, in OMIM – Online Mendelian Inheritance in Man, https://omim.org/entry/226650

  3. Laryngo-onycho-cutaneous syndrome, in OMIM – Online Mendelian Inheritance in Man, https://omim.org/entry/245660

Note: The information provided in OMIM and referenced articles should not be used for self-diagnosis or self-treatment. Consult a healthcare professional for personalized advice and recommendations.

Gene and Variant Databases

Gene and variant databases provide valuable information on the LAMA3 gene and its associated variants. These databases allow researchers and clinicians to access detailed information about the gene, its functions, and the specific variants associated with different conditions and diseases.

One of the most well-known databases for gene and variant information is OMIM (Online Mendelian Inheritance in Man). OMIM collects and organizes information on genes and genetic conditions, including those related to the LAMA3 gene. It provides detailed descriptions, genetic testing information, and references to scientific articles and other resources.

The LAMA3 gene is associated with junctional epidermolysis bullosa, a rare genetic disorder that affects the skin and mucous membranes. The gene codes for the laminin-5 protein, which is a part of the epiligrin protein complex. Changes in the LAMA3 gene can cause abnormalities in the formation of laminin-5, leading to the development of the condition.

In addition to OMIM, there are other variant databases that provide information on the LAMA3 gene and its associated variants. These databases include ClinVar, which aggregates information from various sources on the clinical significance of genetic variants, and HGMD (Human Gene Mutation Database), which contains curated data on disease-causing mutations.

Gene and variant databases are essential resources for researchers, clinicians, and individuals interested in understanding the role of the LAMA3 gene in health and disease. They provide a comprehensive overview of the gene’s structure, function, and the genetic changes that can lead to various conditions. By accessing these databases, researchers and clinicians can stay up-to-date with the latest research findings and make informed decisions about genetic testing and patient care.

Some of the gene and variant databases for the LAMA3 gene:
Database Description
OMIM Provides detailed information on genes and genetic conditions, including those related to the LAMA3 gene.
ClinVar Aggregates information on the clinical significance of genetic variants.
HGMD Contains curated data on disease-causing mutations.

These databases offer additional resources, such as genetic testing information, references to scientific articles, and other relevant information. They play a crucial role in advancing our understanding of the LAMA3 gene and its implications for health and disease.

References

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