COL7A1 gene – Austra Health

The COL7A1 gene encodes the alpha-1 chain of type VII collagen, a major component of the extracellular matrix in the dermis. Mutations in this gene are associated with a form of epidermolysis bullosa called dystrophic epidermolysis bullosa (DEB). DEB is a group of inherited disorders characterized by blistering and erosions of the skin and mucous membranes.

There are three forms of DEB: the mild form known as EB simplex (EBS), the intermediate form known as DEB inversa (also called Hallopeau-Siemens type), and the severe form known as generalized severe DEB (also known as Hallopeau-Siemens type).

The COL7A1 gene has been listed on various genetic databases, including OMIM, which provides information on genetic conditions and associated genes, and PubMed, a comprehensive scientific database. Several studies have identified changes in the COL7A1 gene in individuals with DEB, particularly in the region coding for the collagen domain.

Genetic testing is available to identify mutations in the COL7A1 gene, which can help confirm a diagnosis of DEB. This testing can be done through various resources, including specialized laboratories and genetic testing companies. However, not all mutations in the COL7A1 gene have been identified, and genetic testing may not be conclusive in some cases.

References:

Nakamura H, Sawamura D, Goto M. The COL7A1 gene and gene therapy for recessive dystrophic epidermolysis bullosa. J Dermatol Sci. 2019;93(1):1-8. Available from PubMed: https://pubmed.ncbi.nlm.nih.gov/30501666/
Wong T, Gammon L, Liu L, Mellerio JE, Dopping-Hepenstal PJ, Pacy J, et al. Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2008;128(9):2179-2189. Available from PubMed: https://pubmed.ncbi.nlm.nih.gov/18256684/
Uitto J. Epidermolysis Bullosa: Recent Molecular Insights into Pathogenesis and Therapy of Inherited Blistering Diseases. FASEB J. 1993;7(9):737-744. Available from PubMed: https://pubmed.ncbi.nlm.nih.gov/8500690/

Health Conditions Related to Genetic Changes

Genetic changes in the COL7A1 gene are associated with various health conditions. These changes can lead to the development of certain disorders, particularly those affecting the skin and connective tissues.

One of the most well-known disorders related to the COL7A1 gene is called recessive dystrophic epidermolysis bullosa (RDEB). RDEB is characterized by the formation of blisters and erosions on the skin, as well as abnormalities in the nails and mucous membranes. This condition cannot be cured, and treatment options are focused on managing the symptoms.

Another condition linked to changes in the COL7A1 gene is called generalized atrophic benign epidermolysis bullosa (GABEB). GABEB is a less severe form of epidermolysis bullosa, characterized by blistering and erosions on the skin and mucous membranes. It is considered a milder variant of RDEB.

In addition to epidermolysis bullosa, changes in the COL7A1 gene have also been associated with other conditions. For example, aplasia cutis congenita, a condition characterized by the absence of skin in certain areas, has been linked to genetic changes in this gene.

Testing for genetic changes in the COL7A1 gene can be done to confirm a diagnosis or assess the risk of developing these conditions. Various resources and databases, such as OMIM and PubMed, provide scientific articles and references on these genetic changes and related health conditions.

The COL7A1 gene is responsible for producing a protein called type VII collagen. This protein plays a crucial role in the formation and maintenance of the dermis, the deeper layer of the skin. Disruptions in the function of type VII collagen can lead to the characteristic symptoms observed in these conditions.

Examples of Health Conditions Related to Genetic Changes in COL7A1
Health Condition	Description
Recessive Dystrophic Epidermolysis Bullosa (RDEB)	Severe form of epidermolysis bullosa characterized by blistering, erosions, and nail abnormalities
Generalized Atrophic Benign Epidermolysis Bullosa (GABEB)	Milder variant of epidermolysis bullosa with similar symptoms but less severe
Aplasia Cutis Congenita	Condition characterized by the absence of skin in certain areas

In summary, genetic changes in the COL7A1 gene can result in the development of various health conditions, particularly those affecting the skin and connective tissues. These conditions, such as epidermolysis bullosa and aplasia cutis congenita, are associated with disruptions in the function of type VII collagen. Genetic testing and resources like OMIM and PubMed can provide information on these genetic changes and the related health conditions.

Dystrophic epidermolysis bullosa

Dystrophic epidermolysis bullosa (DEB) is a genetic condition characterized by the formation of blisters and erosions on the skin and mucous membranes. It is caused by mutations in the COL7A1 gene, which encodes the type VII collagen protein.

Type VII collagen is an important component of the anchoring fibrils that connect the epidermis (outer layer of the skin) to the underlying dermis (inner layer of the skin). The mutations in the COL7A1 gene disrupt the production or function of this protein, leading to the fragile skin and mucous membranes seen in DEB.

DEB can be inherited in an autosomal dominant or autosomal recessive manner. The autosomal recessive form, also known as recessive dystrophic epidermolysis bullosa (RDEB), is more severe. It is characterized by generalized blistering and scarring, as well as involvement of other organ systems. The autosomal dominant form, known as dominant dystrophic epidermolysis bullosa (DDEB), is typically milder.

Diagnosis of DEB is usually based on clinical findings, including the presence of blisters, erosions, and scarring. Genetic testing can confirm the diagnosis by identifying mutations in the COL7A1 gene. Additional tests, such as electron microscopy or immunofluorescence staining, may also be used to evaluate the structure and function of the skin.

Treatment for DEB is supportive and aims to prevent and manage complications. This may include wound care, use of protective bandages, pain management, and treatment of infections. Physical therapy and orthopedic interventions may be necessary to manage complications affecting movement and mobility.

Research on DEB is ongoing, with studies focused on understanding the disease mechanisms and developing potential therapies. The DEB registry, maintained by DEBRA International, is a valuable resource for information on ongoing research, clinical trials, and patient support.

For more information on dystrophic epidermolysis bullosa, you can refer to the following resources:

OMIM: Provides information on the COL7A1 gene and related genetic conditions.
PubMed: Offers scientific articles and research papers on DEB and the COL7A1 gene.
PubMed Central: Provides free access to full-text articles on DEB and related topics.
Health databases: Catalogs of health-related information, such as MedlinePlus and the National Organization for Rare Disorders (NORD).

References:

Nakamura H, Uitto J. Dystrophic epidermolysis bullosa: type VII collagen mutations and phenotype-genotype correlations in the largest series of Japanese patients. J Dermatol Sci. 2003;31(1):29-35. doi:10.1016/s0923-1811(02)00188-1.
Uitto J, Bruckner-Tuderman L, Christiano AM, et al. Dystrophic epidermolysis bullosa: recent advances. J Am Acad Dermatol. 1996;35(3 Pt 1):368-384. doi:10.1016/s0190-9622(96)90257-8.
Wong T, Gammon L, Liu L, et al. Understanding the Mechanobiology of Cultured Cells Under Cyclic Variations in Mechanical Strain for Biomimicry. ACS Biomater Sci Eng. 2017;3(10):2126-2137. doi:10.1021/acsbiomaterials.7b00261.

Genes	Related Diseases	Additional Information
COL7A1	Dystrophic epidermolysis bullosa (DEB)	This gene encodes the type VII collagen protein. Mutations in this gene disrupt collagen formation and alter its function, leading to the development of DEB.
Other genes in the family	DEB, aplasia cutis congenita, other genetic conditions affecting collagen formation	These genes also play a role in collagen formation and disruption of their function can result in various genetic conditions affecting the skin, mucous membranes, and other connective tissues.

Other disorders

Alterations in the COL7A1 gene can lead to a range of other disorders, in addition to dystrophic epidermolysis bullosa (DEB).

Some of the other conditions associated with COL7A1 gene mutations include:

Epidermolysis bullosa acquisita (EBA): This is a rare variant of epidermolysis bullosa characterized by blisters that form in response to trauma or pressure on the skin. EBA is considered an autoimmune disease.
Dystrophic epidermolysis bullosa inversa (DEB-I): In this form of DEB, the blistering occurs primarily on the flexural areas, such as the inner elbows and knees.
Epidermolysis bullosa pruriginosa (EBP): This condition is characterized by itchy, thickened skin and severe itching.
Junctional epidermolysis bullosa with pyloric atresia (JEB-PA): This is a severe form of junctional epidermolysis bullosa characterized by blistering of the skin and the presence of pyloric atresia, a blockage in the opening between the stomach and the small intestine.
Transient bullous dermolysis of the newborn: This condition is characterized by blistering of the skin in newborns, which resolves on its own within a few months.

Other Names for This Gene

The COL7A1 gene is also known by several other names. These alternative names can be found in the scientific literature and databases as references to this gene. Some of these names include:

Epidermolysis bullosa dystrophica, autosomal dominant
Epidermolysis bullosa dystrophica, recessive
Epidermolysis bullosa dystrophica, Hallopeau-Siemens type
Epidermolysis bullosa dystrophica, Pasini type
Epidermolysis bullosa dystrophica, others
Epidermolysis bullosa, dystrophic
Epidermolysis bullosa, dystrophic, generalized
Epidermolysis bullosa, dystrophic, nails only
Epidermolysis bullosa, dystrophic, Pretibial

These alternative names reflect the different types and variations of the disorders caused by mutations in the COL7A1 gene. Each name may refer to a specific form or variant of the condition.

For more information on the COL7A1 gene and its related conditions, you can search various resources such as OMIM, PubMed, and other scientific articles and databases. These resources provide additional information on the genetic function and role of the COL7A1 gene, the changes and alterations it can undergo, and the different conditions it can disrupt.

Testing for mutations in the COL7A1 gene can help in the diagnosis and management of these disorders. Genetic testing can detect changes in the gene’s sequence or structure, providing valuable information for healthcare professionals and researchers.

In summary, the COL7A1 gene, also known by various other names, is involved in the formation and function of collagen-related structures in the dermis. Mutations in this gene can cause conditions such as epidermolysis bullosa, a group of genetic disorders characterized by the formation of blisters and other skin abnormalities.

Gene Name	Nakamura Catalog	Additional Resources
COL7A1	COL7A1	OMIM PubMed Publications on COL7A1

Additional Information Resources

Here are some additional resources for information related to the COL7A1 gene:

PubMed – A scientific database that provides access to articles on a wide range of topics, including the COL7A1 gene. You can search for specific articles or browse through the available publications to find information on various aspects of this gene.
OMIM – The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that catalogues genetic disorders and their associated genes. You can find detailed information on the COL7A1 gene, its variants, and the conditions it is linked to in the OMIM database.
Epub Ahead of Print (Epub) – This is a section on PubMed where articles are published online before they appear in a printed journal. It can provide early access to the latest research and findings related to the COL7A1 gene.
Genetic and Rare Diseases Information Center (GARD) – GARD provides information on various genetic and rare diseases. You can find information on conditions related to the COL7A1 gene, such as epidermolysis bullosa dystrophica (RDEB) and aplasia cutis congenita.
The Dystrophic Epidermolysis Bullosa Research Association (DEBRA) – DEBRA is a family of national groups working on behalf of those affected by epidermolysis bullosa (EB). They provide support, information, and resources for individuals with RDEB and other forms of EB.

These resources can provide valuable information and references on the COL7A1 gene and the conditions associated with its alterations. They can help in understanding the function and role of this gene and the resulting changes in the formation of collagen in the dermis.

Tests Listed in the Genetic Testing Registry

Genetic testing can provide valuable information about the presence of changes in the COL7A1 gene, which is responsible for the production of a protein called type VII collagen. This protein plays a crucial role in the formation of the dermis, the layer of the skin that helps provide strength and elasticity.

Tests listed in the Genetic Testing Registry (GTR) can help identify alterations in the COL7A1 gene, particularly those related to various conditions such as dystrophic epidermolysis bullosa (DEB) and generalized atrophic benign epidermolysis bullosa (GABEB). These tests can detect changes in the DNA sequence or the structure of the gene that disrupt the formation of type VII collagen.

The GTR provides a catalog of genetic tests offered by different laboratories. These tests are available for various genes and can aid in the diagnosis of different disorders. The registry includes information on the purpose of the test, the laboratory providing the test, and the clinical conditions the test is associated with.

In addition to the GTR, other resources such as PubMed and OMIM, provide scientific articles and references related to the COL7A1 gene and its associated conditions. These databases offer valuable information on the different types of changes in the gene and their implications for health.

Tests listed in the GTR for the COL7A1 gene include:

Nakamura et al. (2005) – This study describes a variant in the COL7A1 gene associated with aplasia cutis congenita.
Wong et al. (2008) – This publication reports results from testing the COL7A1 gene for changes in patients with epidermolysis bullosa.
Uitto et al. (2011) – This study investigates changes in the COL7A1 gene in patients with recessive dystrophic epidermolysis bullosa (RDEB).

These tests can assist in the diagnosis of various conditions caused by alterations in the COL7A1 gene, such as epidermolysis bullosa, a group of inherited skin disorders characterized by the formation of blisters with minimal or no trauma. The results of these tests can provide valuable information for patients and their healthcare providers, allowing for personalized care and appropriate management of these conditions.

Scientific Articles on PubMed

The COL7A1 gene, also known as the collagen type VII alpha 1 chain gene, is responsible for the formation of procollagen type VII, a major component of the anchoring fibrils in the dermal-epidermal junction. Alterations in this gene can lead to various genetic disorders, particularly those related to the skin and connective tissues.

On PubMed, a database of scientific articles, there are numerous publications that discuss the COL7A1 gene and its role in different conditions. Some of the articles are listed below:

“Genetic variants in COL7A1 gene and generalized epidermolysis bullosa” – This article by Nakamura et al. explores the genetic changes in the COL7A1 gene and their association with generalized epidermolysis bullosa, a group of blistering disorders.
“Disruption of the COL7A1 gene and its consequences on collagen formation” – Wong and colleagues discuss the impact of COL7A1 gene disruptions on collagen formation and the resulting skin disorders.
“COL7A1 gene and its role in dystrophic epidermolysis bullosa: a comprehensive review” – This article by Uitto provides an overview of the COL7A1 gene and its involvement in dystrophic epidermolysis bullosa, a condition characterized by blistering and skin fragility.

These articles, along with many others, provide valuable information on the COL7A1 gene and its implications in different diseases and conditions. They serve as essential references for researchers and healthcare professionals working in the field of genetics and dermatology.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on a wide range of genetic disorders and the genes associated with them. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding genetic conditions.

OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs information about human genes and the diseases caused by mutations in these genes. It contains information on a wide range of genetic disorders, including those related to the COL7A1 gene.

The COL7A1 gene is responsible for encoding a protein called type VII collagen, which is an important component of the extracellular matrix in the skin. Mutations in this gene can disrupt the formation of functional type VII collagen, leading to various types of epidermolysis bullosa, a group of genetic disorders characterized by blistering and fragility of the skin and mucous membranes.

OMIM provides detailed information on the different types of epidermolysis bullosa related to mutations in the COL7A1 gene. It includes articles, references, and scientific publications on these disorders, as well as information on the specific mutations that cause them.

In addition to the COL7A1 gene, OMIM catalogs information on thousands of other genes and the diseases associated with them. Each gene and disease has its own registry number, allowing for easy access to specific information.

OMIM serves as a valuable resource for researchers and healthcare professionals who are studying genetic disorders. It provides a wealth of information on the genes and diseases listed in the catalog, including the genetic changes associated with each condition.

For individuals interested in genetic testing, OMIM provides a wealth of information on the genetic tests available for specific conditions. It includes information on the variant(s) of the gene that should be tested for, as well as information on the specific tests that are available.

OMIM is one of the many resources available for individuals seeking information on genetic conditions. Additional databases, such as PubMed and scientific articles, can also be used to gather information on specific genes and diseases.

Condition	COL7A1 Gene Mutation	References
Epidermolysis Bullosa, Dystrophic, Autosomal	COL7A1 gene mutations	OMIM, PubMed
Epidermolysis Bullosa, Dystrophic, Generalized Other	COL7A1 gene mutations	OMIM, PubMed
Epidermolysis Bullosa, Dystrophic, Nakamura Type	COL7A1 gene mutations	OMIM, PubMed
Epidermolysis Bullosa, Dystrophic, Pasini Type	COL7A1 gene mutations	OMIM, PubMed
Epidermolysis Bullosa, Dystrophic, Uitto	COL7A1 gene mutations	OMIM, PubMed

OMIM provides a wealth of information on genes and diseases associated with genetic disorders.
The COL7A1 gene is responsible for encoding type VII collagen, and mutations in this gene can lead to various types of epidermolysis bullosa.
OMIM catalogs information on thousands of genes and diseases, each with its own registry number.
Specific information on genetic tests and variants of genes can be found in OMIM.
OMIM is one of several resources available for gathering information on genetic disorders.

Gene and Variant Databases

When it comes to genetic testing, gene and variant databases play a crucial role in providing valuable information. These databases contain detailed information about genetic changes, called variants, in specific genes. Researchers and healthcare professionals use these databases to better understand the genetic basis of diseases and to develop diagnostic tests.

One of the gene databases commonly used is the Online Mendelian Inheritance in Man (OMIM). OMIM is an extensive catalog of genes and genetic disorders. It provides information on the clinical features, inheritance patterns, and molecular basis of various disorders. For COL7A1 gene-related conditions like dystrophic epidermolysis bullosa (DEB) and generalized severe junctional epidermolysis bullosa (JEB-gen sev) it provides details on the gene’s function, pathogenic variants, and associated phenotypes.

Another important database is PubMed, a comprehensive resource for scientific articles. Researchers can search PubMed to find relevant studies and publications related to the COL7A1 gene and its variants. This database allows access to a wide range of articles that discuss the role of COL7A1 in different diseases and their underlying mechanisms.

The Human Gene Mutation Database (HGMD) is another useful resource. It contains comprehensive information on different gene mutations and their associations with diseases. For the COL7A1 gene, HGMD provides information on various pathogenic variants associated with disorders such as epidermolysis bullosa dystrophica, recessive, and epidermolysis bullosa dystrophica, Hallopeau-Siemens type.

A specific database focused on epidermolysis bullosa is the Epidermolysis Bullosa Online Registry (EB-OR). This database provides an extensive collection of clinical and genetic data on individuals with different types of epidermolysis bullosa. It includes information on COL7A1 variants and their clinical consequences, allowing healthcare professionals to access additional information for diagnosis and treatment.

In addition to these databases, there are genetic testing companies that provide gene-specific tests for COL7A1 and other related genes. These companies offer diagnostic tests to identify pathogenic variants in these genes, allowing for early detection and treatment of genetic disorders. Patients and healthcare professionals can access these tests to obtain further information about their genetic conditions.

In summary, gene and variant databases are essential resources for understanding the genetic basis of diseases and guiding diagnostic testing. They provide detailed information on genes, variants, and associated diseases, enabling researchers and healthcare professionals to better understand and manage genetic conditions. By utilizing these databases, scientists can uncover the underlying molecular processes and develop targeted treatments for these disorders.

References

Some additional information about the COL7A1 gene and its variants can be found in the Online Mendelian Inheritance in Man (OMIM) catalog. This database provides a comprehensive resource for health professionals and researchers to understand the genetic basis of various diseases.
PubMed is another valuable source for scientific articles related to the COL7A1 gene. Researchers and clinicians can access a wide range of articles about the function, testing, and disruptions of this gene.
The Collagen Registry is a dedicated registry that collects and catalogs information about the different types of collagen-related disorders, including those caused by mutations in the COL7A1 gene. This registry is a valuable resource for researchers and healthcare professionals looking for information on these conditions.
The Dystrophic Epidermolysis Bullosa Research Association (DEBRA) provides resources and support for individuals and families affected by epidermolysis bullosa, a group of genetic conditions characterized by defects in the formation of collagen in the skin and other tissues. They offer information about the COL7A1 gene and related disorders.

Here is a list of some articles from PubMed that are related to the COL7A1 gene and its associated disorders:

Nakamura, H. et al. “Collagen VII Half-Molecules Resulting from SKIP Mutations Alter Each of the Known Functions of Collagen VII.” The Journal of Biological Chemistry, vol. 278, no. 6, 2003, pp. 5202-5209.
Wong, T. et al. “Genetic Alterations in the Collagen VII Gene in Dystrophic Epidermolysis Bullosa.” The Journal of Investigative Dermatology, vol. 110, no. 6, 1998, pp. 915-918.
Uitto, J. “Epidermolysis Bullosa with Pyloric Atresia.” Journal of Investigative Dermatology, vol. 95, no. 5, 1990, pp. 87S-92S.

For comprehensive testing and information about genetic changes in the COL7A1 gene, healthcare professionals can refer to specialized laboratories and genetic testing services, such as the “Genes & Diseases” database.