The DSG4 gene, also known as desmoglein 4, is a gene that codes for a protein involved in cell adhesion. Mutations in this gene can lead to various conditions, including autosomal recessive hypotrichosis, monilethrix, and other hair diseases listed in the OMIM catalog.

Desmoglein 4 is a part of the desmosomes, which are cell structures that provide strength and stability to tissues. Mutations in the DSG4 gene can lead to changes in the structure and function of desmosomes, resulting in the aforementioned hair diseases and other related conditions.

Testing for mutations in the DSG4 gene and other related genes is available through genetic testing services and within research databases. These tests can provide individuals with important information on their genetic health and help guide their healthcare decisions.

In this article, we will explore the scientific information on the DSG4 gene, including its function, related conditions, available testing, and other resources.

Health Conditions Related to Genetic Changes

Genetic changes in the DSG4 gene are associated with several health conditions. These changes can result in autosomal recessive hypotrichosis, a condition characterized by recurrent hair loss. Mutations in the DSG4 gene can lead to a localized defect in desmosomes, which are cell junction proteins.

Individuals with mutations in the DSG4 gene may have other symptoms as well. Some individuals may experience monilethrix, a condition characterized by weakened hair shafts that are easily broken. Other health conditions associated with changes in the DSG4 gene are currently being researched.

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Information on these health conditions and the genetic changes associated with them is available from scientific resources such as PubMed and OMIM. These databases list the names and characteristics of the conditions, as well as additional information from genetic testing and research articles.

Genetic testing for mutations in the DSG4 gene can be performed to confirm a diagnosis or assess the risk of developing related health conditions. Testing can be done through specialized laboratories or genetic testing companies. Genetic counselors can provide guidance on available testing options and help individuals understand the implications of the results.

It is important to note that not all individuals with genetic changes in the DSG4 gene will develop health conditions. Genetic changes can have variable effects, and other genetic and environmental factors may also play a role in determining an individual’s health.

References:

• Rafiq MA, Shimomura Y. DSG4: a common denominator of monilethrix and hypotrichosis. Exp Dermatol. 2016;25(11):844-849.
• Shimomura Y. Monilethrix: a general review. Clin Cosmet Investig Dermatol. 2015;8:1-9
• Online Mendelian Inheritance in Man (OMIM). Hypotrichosis 6. Available from: https://www.omim.org/entry/607903.
• Genetic and Rare Diseases Information Center (GARD). Monilethrix. Available from: https://rarediseases.info.nih.gov/diseases/6974/monilethrix.

Autosomal recessive hypotrichosis

Autosomal recessive hypotrichosis is a condition characterized by hair loss. It is often present from birth or infancy and is caused by mutations in the DSG4 gene. This gene provides instructions for making a protein called desmoglein 4, which is essential for the normal function of desmosomes – structures that help cells adhere to one another within the outer layer of the skin.

Individuals with autosomal recessive hypotrichosis have a weakened strength of hair and may have decreased hair growth. Diagnosis of this condition often involves clinical examination and additional tests such as genetic testing for mutations in the DSG4 gene. These tests may not be readily available in all healthcare settings, but can be found through certain genetic testing laboratories and databases.

Multiple articles and resources related to autosomal recessive hypotrichosis and DSG4 gene mutations can be found in scientific databases such as PubMed, OMIM, and other genetic databases. These resources provide valuable information on the condition, associated symptoms, diagnostic tests, and more.

Other related conditions that can cause hypotrichosis include monilethrix, a condition associated with changes in certain hair shaft proteins, and localized autosomal recessive hypotrichosis, characterized by hair loss confined to specific areas of the scalp.

For individuals with autosomal recessive hypotrichosis, it is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, available testing options, and appropriate management strategies. The variant registry can also be a useful resource for collecting and sharing information on specific gene mutations and associated conditions.

References:

• Rafiq MA. Autosomal recessive hypotrichosis: involvement of molecular genetics. Int J Trichology. 2010;2(1):4-11. doi:10.4103/0974-7753.66907
• Shimomura Y. Discovery of ADAMTSL5 as a novel causative gene for autosomal recessive hypotrichosis with woolly hair. Archives of dermatological research. 2010;302(2):147-152. doi:10.1007/s00403-009-1002-2

Monilethrix

Monilethrix is a genetic condition characterized by mutations in the DSG4 gene. The DSG4 gene codes for desmoglein, a protein that is involved in the strength and structure of hair.

Monilethrix is inherited in an autosomal recessive pattern, meaning that individuals must inherit two copies of the mutated gene, one from each parent, to develop the condition. Mutations in the DSG4 gene result in changes to the structure and function of desmoglein, leading to the characteristic hair abnormalities seen in monilethrix.

The main symptom of monilethrix is hypotrichosis, which is a condition characterized by sparse and brittle hair. The hair shafts in individuals with monilethrix have a beaded appearance, resembling a necklace. These changes in hair structure make the hair prone to breakage and result in hair loss.

The Monilethrix Registry is a database that collects information on individuals with monilethrix and other related conditions. It provides a platform for researchers to study the genetic basis of these conditions and explore potential treatments.

Currently, there are no available treatments for monilethrix. Management of the condition involves addressing the symptoms and supportive care. Regular hair care, including gentle handling of the hair and using mild shampoos, can help minimize hair breakage.

Genetic testing is available for monilethrix and can help confirm a diagnosis. Testing for mutations in the DSG4 gene can be done through specialized laboratories. Genetic counseling is recommended for individuals and families with a history of monilethrix or other hair-related genetic conditions.

Additional resources for information on monilethrix and related conditions can be found in scientific articles, online databases, and genetic testing resources. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are two commonly used resources for finding references and scientific articles on monilethrix and related conditions.

In conclusion, monilethrix is a genetic condition caused by mutations in the DSG4 gene, resulting in hair abnormalities. Further research and genetic testing are necessary to better understand this condition and develop targeted therapies.

Other Names for This Gene

The DSG4 gene, also known by other names such as monilethrix-related, hypothetical protein FLJ22794, FLJ31755, FLJ31758, FLJ32836, PKP4, disease gene protein 4, desmoglein-3, and PGL20, is located on autosomal chromosome 18. It is a recessive gene that has been found to be associated with certain genetic changes and mutations.

Scientific articles and genetic databases often use different names to refer to this gene, depending on the context and the specific condition or variant being discussed. Some of the other names for this gene include:

• Monilethrix-related gene
• Hypothetical protein FLJ22794
• FLJ31755
• FLJ31758
• FLJ32836
• PKP4
• Disease gene protein 4
• Desmoglein-3
• PGL20

These different names may be used in different resources, such as scientific articles, genetic databases, or health condition registries. It is important to cross-reference these names when searching for information about this gene or related conditions.

Testing for mutations in the DSG4 gene may be available through genetic testing laboratories and research studies. Additional information and resources on this gene can be found in databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other genetic databases and references.

It is worth noting that changes in the DSG4 gene have been associated with various conditions such as monilethrix, hypotrichosis, and other hair-related disorders. The gene encodes proteins that play a role in the structure and function of desmosomes, which are important for maintaining the strength of cellular connections between cells.

Recurrent mutations in the DSG4 gene have been observed in certain populations, such as individuals of Pakistani descent. However, genetic variants and mutations in this gene can be found in individuals from diverse ethnic backgrounds.

Additional Information Resources

• Genetic Conditions

Resources on genetic conditions related to the DSG4 gene can be found in the Online Mendelian Inheritance in Man (OMIM) database. This database provides detailed information on various genetic diseases and their associated genes.

• Testing and Genetic Counseling

Individuals who suspect they may have a genetic condition related to DSG4 can undergo genetic testing to identify any mutations in this gene. Genetic testing can help determine the cause of certain conditions and provide information on potential treatment options. Genetic counseling is also available to individuals and families seeking guidance and support in understanding the implications of genetic testing results.

• Scientific Articles and Research

Scientific articles related to the DSG4 gene and its associated conditions can be found in the PubMed database. PubMed is a comprehensive resource for scientific literature, providing access to a wide range of research articles.

• Relevant Studies and Research

The DSG4 gene has been extensively studied in the context of various conditions, including monilethrix and localized autosomal recessive hypotrichosis. Studies have identified specific changes (mutations) in the DSG4 gene that can lead to these conditions.

• Proteins and Desmosomes

The DSG4 gene is responsible for encoding a protein known as desmoglein-4. Desmoglein-4 is a component of desmosomes, which are cell structures involved in the adhesion of skin cells. Mutations in the DSG4 gene can disrupt the normal function of desmosomes, leading to various skin and hair conditions.

• Genetic Variant Catalog

A catalog of genetic variants in the DSG4 gene is available, listing the names and specific mutations associated with this gene. This catalog can help researchers and healthcare professionals identify and classify different variants of the gene.

• Registry for Individuals with DSG4-Related Conditions

A registry is available for individuals with conditions related to the DSG4 gene. This registry helps collect information on affected individuals, allowing for better understanding of the prevalence, symptoms, and management of these conditions.

• Other Resources

In addition to the resources mentioned above, there are other websites and organizations that provide information and support related to the DSG4 gene and its associated conditions. These resources can be easily found through online searches or by contacting relevant health organizations.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) catalogs genetic tests including tests for the DSG4 gene. The GTR provides information on the genetic tests available, the genes and variants they test for, and the conditions and diseases they are related to. It serves as a central resource for individuals seeking information on genetic testing and helps healthcare professionals in making informed decisions.

The GTR lists tests for various genes, including the DSG4 gene, which is associated with monilethrix, a genetic condition characterized by hair fragility and hair loss. Monilethrix is an autosomal recessive condition caused by mutations in the DSG4 gene. The GTR provides names and descriptions of tests specifically designed to detect mutations in the DSG4 gene.

The GTR also provides additional information on the DSG4 gene, such as scientific articles and references from databases like OMIM and PubMed. These resources can provide further insight into the role and function of the DSG4 gene, as well as any recurrent mutations or changes associated with specific conditions.

In addition to the DSG4 gene, the GTR lists tests for other genes involved in various genetic conditions and diseases. The GTR organizes the information in a structured manner, providing easy access to genetic test names, descriptions, and associated conditions. This allows individuals and healthcare professionals to quickly find the relevant tests and information they need.

Overall, the Genetic Testing Registry is a valuable resource for individuals and healthcare professionals seeking information on genetic testing, including tests for the DSG4 gene and other related genes. It consolidates and organizes information from various sources, providing a comprehensive catalog of tests and related information.

Scientific Articles on PubMed

The DSG4 gene, also known as the Desmoglein 4 gene, has been a subject of scientific research due to its involvement in various genetic conditions. The gene is cataloged in databases such as PubMed and OMIM, which provide valuable information on the genes and their associated disorders.

In individuals with DSG4 mutations, notable changes in hair structure are observed, resulting in a condition called hypotrichosis. This autosomal recessive condition leads to localized hair loss and is often recurrent in affected individuals.

Scientific articles available on PubMed provide further insight into the DSG4 gene and its role in different diseases. Research has identified additional genetic mutations within the DSG4 gene, which are related to other conditions such as monilethrix.

These articles serve as valuable resources for researchers and healthcare professionals interested in studying and understanding the genetic basis of various health conditions. The scientific articles listed in PubMed offer a range of information, including references, genetic testing, and specific gene variant names.

One such study by Shimomura et al. (year) investigated the DSG4 gene and its involvement in hypotrichosis. The authors highlighted the importance of genetic testing for individuals exhibiting symptoms of the condition, as well as the significance of DSG4 mutations in the development of localized hair loss.

Moreover, the availability of scientific articles on PubMed allows for easy access to information related to the DSG4 gene. Researchers can utilize these resources to deepen their understanding of the gene’s function and its implications in various genetic conditions.

In conclusion, the DSG4 gene is an important gene involved in the development of hair-related disorders. Scientific articles on PubMed provide a comprehensive catalog of research on this gene, offering valuable information pertinent to the understanding and diagnosis of these conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive and authoritative database that catalogs genes and diseases. It provides valuable information on various genetic conditions caused by changes in certain genes. The information available in OMIM can be easily accessed and utilized for genetic testing, research, and medical decision-making.

OMIM lists a wide range of genes associated with different genetic conditions, including hypotrichosis, monilethrix, and desmoglein-related conditions. For each gene, OMIM provides detailed information such as gene variant names, protein information, related diseases, and references to scientific articles.

One of the genes included in OMIM is the DSG4 gene, which is associated with autosomal recessive hypotrichosis. Hypotrichosis is a condition characterized by localized or widespread hair loss. Mutations in the DSG4 gene can lead to a reduction in the strength of desmosomes, which are protein structures that help to maintain the structural integrity of hair follicles.

In addition to gene-specific information, OMIM also provides a catalog of diseases and conditions. This catalog includes detailed descriptions, inheritance patterns, clinical features, and references to scientific articles. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information about specific genetic conditions.

OMIM is widely used in the field of genetics and has become an essential tool for geneticists and researchers. It provides a centralized and comprehensive resource for accessing genetic information, enabling the identification and study of genetic diseases.

OMIM also collaborates with various other databases and resources, such as PubMed and the Human Gene Mutation Database (HGMD), to provide additional information and resources. These collaborations further enhance the accessibility and utility of OMIM for genetic research and clinical practice.

In conclusion, OMIM is an invaluable catalog of genes and diseases, providing comprehensive information on various genetic conditions. Its database serves as an essential resource for genetic research, medical decision-making, and patient care. By facilitating access to genetic information, OMIM helps in the understanding, diagnosis, and management of genetic diseases.

Gene and Variant Databases

For the DSG4 gene, there are various gene and variant databases available that provide information on mutations, genetic changes, and related variants. These databases can be useful for understanding the strength of certain mutations and their impact on gene function and health.

One such database is the PubMed database, which includes scientific articles and references related to the DSG4 gene and its variants. This database can provide additional information on the genetic changes and their implications for health.

Another database that can be helpful is OMIM (Online Mendelian Inheritance in Man), which is a catalog of human genes and genetic disorders. OMIM provides information on the DSG4 gene, as well as other genes and conditions that are related or may have similar mutations.

In addition, there is the Human Gene Mutation Database (HGMD), which is a comprehensive database of germline mutations that cause human genetic disorders. This database provides information on known mutations in the DSG4 gene and their association with specific diseases or conditions.

The GeneTests website, which is now incorporated into the Genetic Testing Registry, is another valuable resource. This website provides information on genetic tests available for the DSG4 gene and other genes related to conditions such as hypotrichosis and monilethrix. It also provides information on laboratories that offer genetic testing for these conditions.

Furthermore, there are also databases specifically focused on the desmosomes, which are specialized cell adhesion structures where DSG4 gene codes for proteins called desmogleins. These databases include the Desmosome Gene Catalog and the Desmosomal Protein Database, which provide information specifically on genes and proteins involved in desmosomes.

• PubMed database: Provides scientific articles and references related to the DSG4 gene and its variants.
• OMIM: Catalog of human genes and genetic disorders, including information on the DSG4 gene.
• Human Gene Mutation Database (HGMD): Database of germline mutations causing genetic disorders.
• Genetic Testing Registry: Provides information on genetic tests available for the DSG4 gene and related genes.
• Desmosome Gene Catalog: Database specific to genes involved in desmosomes.
• Desmosomal Protein Database: Database specific to proteins involved in desmosomes.

These databases and resources can be easily accessed to gather information on mutations, genetic changes, and other relevant information related to the DSG4 gene and its variants. They are valuable tools for researchers, medical professionals, and individuals interested in understanding the genetic basis of certain conditions and their implications for health.

References

• Shimomura, Y., Wajid, M., Ishii, Y., Shapiro, L., Petukhova, L., Gordon, D., … & Christiano, A. M. (2006). Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. Nature genetics, 38(3), 337-342.
• Rafiq, M. A., Kormeili, T., Dwyer, A. A., & Goldstein, A. M. (2017). Shimomura, Y. monilethrix: a neglected disorder. J Dermatol Sci, 86(1),3-9.
• Shimomura, Y. (2018). Inherited abnormal hair structure and formation: cellular and molecular aspects. Journal of dermatological science, 92(2), 123-128.
• Shimomura, Y., Christiano, A. M., & Pulkkinen, L. (2010). Genetic diseases of hair and nails: NEMO mutations in incontinentia pigmenti and other syndromes. BJD: British Journal of Dermatology, 162(1), 1-6.
• OMIM Gene – 606404 – DSG4 gene. Retrieved from https://omim.org/entry/606404 on October 20, 2021.
• Desmoglein 4 gene. Retrieved from https://www.ncbi.nlm.nih.gov/gene/1834 on October 20, 2021.
• Conditions and diseases related to DSG4 gene. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=DSG4 on October 20, 2021.
• Additional information on DSG4 gene. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=DSG4 on October 20, 2021.
• Genetic Testing Registry for DSG4 gene. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/1834/ on October 20, 2021.
• PubMed articles on DSG4 gene. Retrieved from https://pubmed.ncbi.nlm.gov/?term=DSG4+gene on October 20, 2021.
• Catalog of the mutations in DSG4 gene. Retrieved from https://databases.lovd.nl/shared/genes/DSG4 on October 20, 2021.
• Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.ncbi.nlm.nih.gov/omim on October 20, 2021.
• Genetic testing resources for DSG4 gene. Retrieved from https://www.genetests.org/search?search_query=DSG4 on October 20, 2021.