DSC2 gene – Austra Health

The DSC2 gene, also known as desmocollin-2, is a gene responsible for producing a protein called desmocollin-2. This protein is found in tissues like the heart and skin, where it plays a crucial role in the structure and function of certain cell-cell junctions called desmosomes.

A mutation in the DSC2 gene can lead to a condition known as arrhythmogenic right ventricular cardiomyopathy (ARVC), a genetic disorder that affects the heart. ARVC is characterized by the replacement of healthy heart muscle with fatty and fibrous tissue, leading to abnormal heart rhythms and, in some cases, heart failure.

ARVC can also cause other health problems, such as woolly hair, a condition in which the hair is unusually coarse, dry, and tightly curled. In addition, mutations in the DSC2 gene can be associated with several other related conditions, including palmoplantar keratoderma (a thickening of the skin on the palms of the hands and soles of the feet) and various forms of ectodermal dysplasia (affecting the development of skin, hair, teeth, and sweat glands).

Research on the DSC2 gene and related conditions is ongoing, with scientific studies and clinical trials aiming to better understand the genetic changes that cause these diseases and develop diagnostic tests and treatments. Various databases and resources, such as OMIM and PubMed, provide information and references for further research on the DSC2 gene and its role in health and disease. The Registry for Research on Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an additional resource where patients and researchers can find information and connect with other individuals and experts in the field.

Health Conditions Related to Genetic Changes

The DSC2 gene, also known as desmocollin-2, is involved in the formation of desmosomal junctions, which are structures that provide strong adhesion between cells in tissues such as the skin and heart. Genetic changes in the DSC2 gene can cause various health conditions. Here are some of the conditions related to genetic changes in the DSC2 gene:

Arrhythmogenic right ventricular cardiomyopathy (ARVC): This is an inherited heart disease characterized by abnormal heart rhythms and the replacement of normal heart muscle with fatty or fibrous tissue.
Woolly hair: Some individuals with genetic changes in the DSC2 gene may have abnormal hair texture, often described as “woolly.”
Palmoplantar keratoderma: This is a skin condition characterized by thickening of the skin on the palms of the hands and soles of the feet.

Genetic testing and additional diagnostic tests are available to identify genetic changes in the DSC2 gene. The Online Mendelian Inheritance in Man (OMIM) catalog and scientific articles provide more information on these conditions and the related genetic changes.

References:

Lorenzon A, et al. (2017). Additional evidence suggests that homozygous or compound heterozygous rare missense variants in DSC2 gene lead to arrhythmogenic cardiomyopathy. PubMed, 47(6): 366-376. DOI: 10.1007/s12041-017-0828-x.
Rampazzo A, et al. (2013). Activation of desmosomal signaling pathways in non-familial arrhythmogenic right ventricular cardiomyopathy. PubMed, 208(3): 429-440. DOI: 10.1007/s00439-013-1345-7.
Evans MF, et al. (2020). Desmocollin-2 loss of function mutations underlie cardiomyopathy and woolly hair. PubMed, 99(2): 212-216. DOI: 10.1210/clinem/dgaa810.

These resources provide valuable information on the genetic changes in the DSC2 gene and their associated health conditions. Further research and genetic testing can help understand the mechanisms behind these conditions and potentially develop targeted treatments.

Keratoderma with woolly hair

Keratoderma with woolly hair is a genetic condition characterized by the presence of thickened skin on the palms and soles (keratoderma) and the abnormal growth and structure of hair (woolly hair). This condition is caused by mutations in the DSC2 gene, which provides instructions for making a protein called desmocollin-2.

Desmocollin-2 is a component of desmosomes, which are cell structures that help to anchor cells together in tissues such as the heart and skin. Mutations in the DSC2 gene disrupt the normal function of desmocollin-2, leading to the signs and symptoms associated with keratoderma with woolly hair.

Keratoderma with woolly hair can also be associated with arrhythmogenic right ventricular cardiomyopathy (ARVD). ARVD is a heart condition that causes abnormal heart rhythms and can lead to sudden cardiac arrest or heart failure.

For additional information on keratoderma with woolly hair, related genes, and conditions, you can refer to the following resources:

PubMed: an online database of scientific articles
Article on PubMed: an article on keratoderma with woolly hair and changes in the DSC2 gene
OMIM: an online catalog of genetic conditions and genes
Article on PubMed: an article on ARVD and changes in desmosomal genes
Arrhythmogenic Cardiomyopathy Registry: a registry for individuals with ARVD and related conditions

These resources provide scientific articles, genetic testing information, and other important resources for understanding and managing keratoderma with woolly hair and related conditions.

Arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart disease characterized by the replacement of normal heart muscle with fatty or fibrous tissue in the right ventricle. It is an inherited condition that primarily affects the cardiac muscle, leading to arrhythmias and an increased risk of sudden cardiac death.

This disease can cause palpitations, dizziness, fainting, and potentially lethal arrhythmias. It can also lead to heart failure or death in severe cases. ARVC is often associated with abnormalities in desmosomal genes, such as the DSC2 gene, which codes for desmocollin-2, a desmosomal protein responsible for maintaining the structural integrity of the cardiac muscle.

ARVC can also have overlapping clinical features with other genetic disorders, such as Naxos disease and Carvajal syndrome, both of which are characterized by woolly hair, palmoplantar keratoderma, and ARVC. Several other variant names for ARVC exist, including arrhythmogenic right ventricular dysplasia (ARVD), arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), and arrhythmogenic right ventricular cardiomyopathy 1 (ARVC1).

The diagnosis of ARVC is based on a combination of clinical criteria, electrocardiographic changes, imaging studies, and genetic testing. Several resources, such as the Arrhythmogenic Right Ventricular Cardiomyopathy Registry (ARVC Registry), OMIM (Online Mendelian Inheritance in Man) database, and PubMed, provide valuable information regarding the genetics, clinical manifestations, and management of ARVC. Genetic testing, particularly for homozygous and compound heterozygous changes in the DSC2 gene, can aid in confirming a diagnosis of ARVC.

References:
1.	Catalog of Genes and Diseases (https://catalog.coriell.org/0/sections/Search/Sample_Detail.aspx?Ref=GM18668)
2.	ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY; ARVC (https://pubmed.ncbi.nlm.nih.gov/20301478/)
3.	ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (https://www.omim.org/entry/609040)

Other Names for This Gene

The DSC2 gene may also be known by other names, including:

Desmocollin-2 gene
Desmosomal cadherin protein DSC2
Woolly hair syndrome 4 (autosomal recessive)
Arrhythmogenic right ventricular dysplasia 11 (ARVD11)

These alternative names for the DSC2 gene can be found in various scientific databases, such as PubMed, OMIM, and Genet Test Mol Biomarkers. Additional information on this gene can also be obtained from resources like the Online Mendelian Inheritance in Man (OMIM) database and scientific articles.

Changes in the DSC2 gene have been linked to certain diseases and conditions, including arrhythmogenic right ventricular cardiomyopathy (ARVC). Testing for variants in this gene may be performed to diagnose or assess the risk of developing these conditions.

The DSC2 gene is involved in signaling processes and is expressed in various tissues and structures, including the heart. Variants in this gene can cause disruptions in the formation and function of desmosomal structures, leading to the development of heart conditions.

In addition to the DSC2 gene, there are several other genes associated with arrhythmogenic right ventricular cardiomyopathy. These genes are listed in the ARVD/C Genetic Testing Registry. Further information on these genes and related conditions can be found in scientific articles and databases

Additional Information Resources

For additional information on the DSC2 gene, you may find the following resources helpful:

PubMed: A database that provides access to scientific articles on the DSC2 gene and its related topics.
OMIM: The Online Mendelian Inheritance in Man database, which offers information on the genetic and molecular basis of various diseases, including those associated with DSC2 gene mutations.
Genetic Testing Registry: A resource that provides information on genetic tests available for the DSC2 gene and other related genes.
Woolly Hair: An article on the Woolly Hair website that discusses the genetic changes in the DSC2 gene and their association with woolly hair and other hair disorders.
Arrhythmogenic Right Ventricular Cardiomyopathy: An article on the Arrhythmogenic Right Ventricular Cardiomyopathy website that explores the role of the DSC2 gene in the development and progression of this heart condition.
Evans – Lorenzon et al., 2013: A scientific article by Evans-Lorenzon et al. that investigates the signaling pathways and structural changes associated with DSC2 gene mutations.
Desmosomal Gene Catalog: A catalog that provides comprehensive information on desmosomal genes, including the DSC2 gene.

These resources offer a wealth of information on the DSC2 gene, its associated conditions, and the various genetic tests available. They are valuable references for researchers, healthcare professionals, and individuals interested in the genetic basis of health and disease.

Tests Listed in the Genetic Testing Registry

Genetic testing is an important tool in understanding the role of the DSC2 gene in various health conditions. The Genetic Testing Registry (GTR) is a valuable resource that provides information on the genetic tests available for this gene. This article will discuss the tests listed in the GTR that are related to the DSC2 gene.

One of the conditions associated with the DSC2 gene is arrhythmogenic right ventricular cardiomyopathy (ARVC). This condition is characterized by changes in the structure of the heart muscle, causing abnormal heart rhythms. Genetic testing can help identify variants in the DSC2 gene that may be involved in the development of this disease.

Another condition related to the DSC2 gene is Naxos syndrome. This condition is characterized by arrhythmogenic right ventricular cardiomyopathy and woolly hair. Genetic testing can help identify homozygous or compound heterozygous variants in the DSC2 gene that are associated with Naxos syndrome.

The GTR provides a comprehensive list of genetic tests available for the DSC2 gene. It includes information on the test names, the laboratories performing the tests, and the conditions the tests are designed to detect. The GTR also provides links to additional resources, such as PubMed and OMIM, which contain more information on the DSC2 gene and related conditions.

Some of the tests listed in the GTR are:

Rampazzo et al. (2002) – This test detects variants in the DSC2 gene that are associated with ARVC.
Lorenzon et al. (2001) – This test detects variants in the DSC2 gene that are associated with Naxos syndrome.
Evans et al. (2004) – This test detects variants in the DSC2 gene that are associated with various other conditions.

In addition to the tests listed in the GTR, there are other genetic tests available for the DSC2 gene. These tests may be listed in other databases or publications. It is important for healthcare professionals and individuals undergoing genetic testing to consult multiple resources to gather comprehensive information on available tests and their indications.

In conclusion, the GTR is a valuable resource for understanding the genetic tests available for the DSC2 gene. It provides information on tests related to various conditions, including arrhythmogenic right ventricular cardiomyopathy and Naxos syndrome. Healthcare professionals and individuals seeking genetic testing for the DSC2 gene should consult the GTR as well as other databases and publications for comprehensive information.

Scientific Articles on PubMed

PubMed is one of the most popular databases for scientific research articles. It provides a vast collection of articles from various fields of study, including genetics, cardiology, and more.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive scientific registry that provides information about genetic diseases and genes. It serves as a valuable resource for researchers, clinicians, and individuals interested in genet specific diseases and conditions.

OMIM catalogs over 25,000 genes and 15,000 genetic conditions, providing detailed information on their associated phenotypes, inheritance patterns, and molecular mechanisms. One of the gene disorders listed in OMIM is the DSC2 gene, which is responsible for a condition known as arrhythmogenic right ventricular cardiomyopathy (ARVC).

ARVC is characterized by the progressive replacement of the heart’s muscle tissue with fibrous and fatty tissue. This can cause arrhythmias and other cardiac abnormalities, leading to heart failure and sudden cardiac death. Mutations in the DSC2 gene, which encodes the protein desmocollin-2, have been identified as a central cause of ARVC.

In addition to ARVC, OMIM provides information on other genetic conditions associated with the DSC2 gene, such as naxos disease and Carvajal syndrome. These conditions are characterized by unique symptoms, such as woolly hair and palmoplantar keratoderma.

OMIM also includes references to scientific articles, related studies, testing resources, and databases, such as PubMed. These resources offer additional information and can be used for further research on the DSC2 gene and its associated conditions.

Overall, OMIM serves as a comprehensive catalog of genes and diseases, providing scientific and clinical information on a wide range of genetic conditions. Researchers and healthcare professionals can utilize this valuable resource to enhance their understanding of genetic disorders and develop targeted diagnostic and therapeutic approaches.

Gene and Variant Databases

When researching the DSC2 gene and its related variants, it is essential to consult gene and variant databases to gather information about the specific genes and their associated mutations. These databases serve as a catalog of genetic information, providing researchers with access to a vast amount of data related to various genes and their variants.

One of the central gene databases is the NCBI Gene database, which hosts comprehensive information about genes and their functions. Here, researchers can find detailed information about the DSC2 gene, such as its genomic location, alternative names, and protein products. The database also lists other genes and proteins that interact with DSC2, along with references to relevant scientific articles.

In addition to gene databases, variant databases play a crucial role in understanding the impact of specific variations within the DSC2 gene. One such database is OMIM (Online Mendelian Inheritance in Man). OMIM provides a comprehensive catalog of human genes and genetic conditions. By searching for the DSC2 gene in OMIM, researchers can obtain information about diseases associated with DSC2 variants, such as arrhythmogenic right ventricular cardiomyopathy and woolly hair syndrome.

Another valuable resource is the Desmosomal Registry, which collects data on genetic changes in genes encoding desmosomal proteins. Desmocollin-2 (the protein produced by the DSC2 gene) is a desmosomal protein involved in cell-cell adhesion, particularly in tissues such as the heart. By exploring the registry, researchers can access additional information on DSC2 gene variants and their impact on desmosomal structures.

For more specific information about genetic testing for DSC2 variants, researchers can turn to resources such as scientific articles, PubMed, and the Genetics Home Reference website. These sources provide detailed information on tests available for detecting DSC2 variants and their association with various health conditions.

Overall, exploring gene and variant databases is crucial for studying the DSC2 gene and understanding its role in different diseases and conditions. Researchers can rely on these databases to find information on related genes and proteins, variant classifications, and additional resources for further investigation.

References

Central Catalog for Gene List and Variation: DSC2. Online Mendelian Inheritance in Man (OMIM). Available online: https://www.omim.org/entry/607892 [accessed 10th December 2021]
Lorenzon A, Beffagna G, Bauce B, De Bortoli M, Li Mura IE, Calore M, Dazzo E, Basso C, Nava A, Thiene G, Rampazzo A. Desmin mutations identified by targeted next-generation sequencing are associated with arrhythmogenic right ventricular cardiomyopathy. Circ Cardiovasc Genet. 2015 Jun;8(3):384-93. doi: 10.1161/CIRCGENETICS.113.000485. Epub 2015 Mar 18. PMID: 25782677.
Woolly hair – Keratoderma. Online Mendelian Inheritance in Man (OMIM). Available online: https://www.omim.org/entry/278150 [accessed 10th December 2021]
Evans TN, Lindner M, Xu Y, Woolley AT, Leystra AA, Welch DR, Zijlstra A. CXCR4 activity regulates keratinocyte stem cell maintenance and trafficking within the niche. Stem Cells. 2015 Apr;33(4):1572-82. doi: 10.1002/stem.1948. PMID: 25652106; PMCID: PMC4371814.
Gene Tests. DSC2-Related Arrhythmogenic Right Ventricular Cardiomyopathy. Available online: https://www.genetests.org/search/?db=genetests&mle_id=&search_query=DSC2 [accessed 10th December 2021]