The KRT14 gene, also known as keratin 14, is a genetic variant that is associated with several dermatological conditions. It is one among the many keratin genes that are responsible for the synthesis of keratins, which are proteins that make up the structural framework of tissues such as the skin, hair, and nails. The KRT14 gene specifically produces a type of keratin called keratin 14, which is primarily expressed in basal keratinocytes.

One of the conditions caused by changes in the KRT14 gene is called epidermolysis bullosa simplex, which is a group of recurrent and additional blistering diseases. Another condition related to KRT14 gene changes is dermatopathia pigmentosa reticularis, also known as Naegeli-Franceschetti-Jadassohn syndrome. This condition is characterized by changes in skin pigmentation and the formation of reticular patterns on the skin.

Scientific articles and resources such as PubMed, OMIM, and the Human Gene Mutation Database provide additional information and references on the KRT14 gene and the conditions it may cause. Genetic testing and gene variant catalogs can be used to diagnose these conditions and provide further insights into the genetic changes associated with them.

Health Conditions Related to Genetic Changes

In the context of the KRT14 gene, several health conditions are caused by genetic changes in this gene. These changes can lead to various skin disorders and syndromes.

One of the conditions related to genetic changes in the KRT14 gene is Naegeli-Franceschetti-Jadassohn syndrome, also called Naegeli syndrome. This condition is characterized by the absence of fingerprints and other changes in the skin. It is caused by mutations in the KRT14 gene and is inherited in an autosomal dominant pattern.

Another condition related to KRT14 gene changes is Dermatopathia Pigmentosa Reticularis, also known as Sprecher syndrome. This condition is characterized by hyperpigmented and reticulated skin and is caused by mutations in the KRT14 gene. It is inherited in an autosomal recessive pattern.

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To invest further in the study of these conditions, scientific articles and resources can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide information on the genes involved, genetic changes, and other related information.

Testing for these conditions can be done through genetic testing, which analyzes the DNA for changes in the KRT14 gene. This testing can help confirm a diagnosis and provide information for genetic counseling.

In addition to the KRT14 gene, other genes are also associated with these conditions. For example, the KRT5 gene is involved in epidermolysis bullosa simplex, another skin condition characterized by blistering of the skin and mucous membranes. Various genetic changes in these genes can cause the condition.

For more information on these conditions and the genetic changes associated with them, additional resources and references can be found in the scientific literature and online catalog.

These health conditions related to genetic changes in the KRT14 and KRT5 genes can affect various tissues and result in the formation of abnormal filaments in the skin. The exact mechanisms through which these changes cause the conditions are still being studied.

Genetic testing and the use of databases, such as OMIM and PubMed, provide valuable tools for researchers and healthcare professionals to better understand these conditions and develop appropriate treatments.

As new variant forms and changes related to these health conditions are identified, the information can be added to registries and databases for future reference and research.

Epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS) is a group of genetic skin conditions caused by changes in the KRT14 gene, which provides instructions for making a protein called keratin 14. EBS is characterized by the formation of recurrent blisters and erosions on the skin. This condition has been known by other names, including Naegeli-Franceschetti-Jadassohn syndrome, Dermatopathia pigmentosa reticularis, and EBS with muscular dystrophy.

EBS is classified into different types based on the specific gene mutations involved. Mutations in the KRT14 gene, as well as the KRT5 gene, have been found to cause the various forms of EBS. The mutations affect the production of keratinocytes, which are the cells that make up the outermost layer of the skin.

The signs and symptoms of EBS vary depending on the type. Common features include fragile skin that blisters easily, particularly on areas of friction or pressure, such as the hands, feet, and knees. The severity of symptoms can range from mild to severe, with some forms of EBS causing widespread blistering and scarring.

EBS can be diagnosed through genetic testing, which can identify changes in the KRT14 and KRT5 genes. Additional testing, such as skin biopsy, may be performed to confirm the diagnosis and rule out other conditions.

Treatment for EBS aims to manage the symptoms and prevent complications. This may include wound care, use of protective dressings, and pain management. Genetic counseling may also be recommended to provide information on the inheritance pattern and the risk of passing on the condition to future generations.

Resources:

• PubMed – A database for articles from scientific journals
• OMIM – A catalog of human genes and genetic disorders
• Dermatopathia Pigmentosa Reticularis Registry – A registry for the condition

References:

1. Sprecher, E. (2020). Epidermolysis bullosa simplex. Skin and skin diseases. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK431059/
2. Lemmink, H. H. (2004). Mutations in the keratin 14 gene have been identified in two families with epidermolysis bullosa simplex. Journal of Investigative Dermatology, 4, 330-335. doi: 10.1111/j.0022-202X.2004.22109.x
3. Uitto, J., Richard, G., & Titeux, M. (2020). Epidermolysis bullosa simplex. GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1368/

Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis

Naegeli-Franceschetti-Jadassohn syndrome (NFJS) or dermatopathia pigmentosa reticularis is a genetic condition caused by mutations in the KRT14 gene. It is a rare skin disorder that affects the formation of skin, hair, and nails. NFJS is a form of ectodermal dysplasia, a group of conditions that affect the development of ectodermal tissues.

NFJS is characterized by the presence of reticulate hyperpigmentation, or a net-like pattern of darkened skin. This pigmentation is usually present from birth and persists throughout life. Other features of NFJS may include absence or decrease in sweating, thinning of the outer layer of the skin (epidermis), and small or absent fingerprints.

In addition to the skin abnormalities, individuals with NFJS may have changes in their hair and nails. Hair may be sparse, thin, or absent in certain areas. Nails may be thin, brittle, or ridged. Some individuals with NFJS may also experience dental abnormalities, such as missing or small teeth.

NFJS is inherited in an autosomal dominant pattern, which means a mutation in one copy of the KRT14 gene is sufficient to cause the disorder. The KRT14 gene provides instructions for making a protein called keratin 14, which is found in epithelial tissues throughout the body, including the skin. Mutations in the KRT14 gene result in a defective keratin 14 protein, which alters the normal structure and function of epithelial tissues.

NFJS is a rare condition, and the exact prevalence is unknown. It has been described in only a few dozen families worldwide. The condition is more common in individuals of Swiss descent, with the Naegeli variant specifically associated with the Lemmink family in Switzerland.

Diagnosis of NFJS is based on the clinical features and genetic testing for mutations in the KRT14 gene. Genetic testing can confirm the presence of a mutation in individuals with NFJS and can be helpful for determining the risk of passing the condition to future generations.

Currently, there is no specific treatment for NFJS. Management of the condition primarily involves supportive care. This may include measures to protect the skin, such as avoiding exposure to excessive heat or cold, and using moisturizers or emollients to help alleviate dryness. Regular dental care and dental implants may be needed to address any dental abnormalities.

Genetic counseling may be helpful for individuals and families affected by NFJS. A genetic counselor can provide information about the inheritance pattern of the condition, the risk of passing it on to children, and the options for testing and managing the condition.

References

• Invest. Dermatol. 1997 Dec;109(6):757-60. PubMed PMID: 9406806
• Sprecher E. Dermatopathia pigmentosa reticularis: a clinicopathologic study of 9 cases and review of the litterature. Arch Dermatol. 2004 Sep;140(9):1105-9. PubMed PMID: 15381554
• Uitto J, et al. Naegeli-Franceschetti-Jadassohn Syndrome. In: GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2020. PubMed PMID: 21290718

Other Names for This Gene

The KRT14 gene is also known by several other names, including:

• Epidermolysis bullosa simplex, generalized intermediate, 2 (EBSG2)
• Naegeli-Franceschetti-Jadassohn syndrome
• Naegeli syndrome
• Sprecher type
• Epidermolysis bullosa, white sponge nevus 1
• Dermatopathia pigmentosa reticularis

These names are used to describe different forms or variants of the KRT14 gene, which cause various skin diseases and conditions. Additional information about this gene can be found in scientific articles, genetic databases, and health resources, such as PubMed, OMIM, and the Genetic Testing Registry.

Changes in the KRT14 gene can lead to the production of abnormal keratin proteins in the skin cells called keratinocytes. These changes can result in the formation of different skin conditions, including epidermolysis bullosa simplex, dermatopathia pigmentosa reticularis, and other related diseases.

In some cases, testing for changes in the KRT14 gene may be recommended if a person has symptoms or a family history of these conditions. The results of these tests can provide important information for diagnosis, treatment, and genetic counseling.

References for further information:

1. Lemmink, H., et al. (1993). Mutations in the asp gene of epidermolysis bullosa simplex: multiple alterations in highly conserved residues intragenic mapping and implications for keratin filament structure. Journal of Investigative Dermatology, 100(6), 756-760.
2. Uitto, J., & Richard, G. (2004). Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. Clinical Dermatology, 22(3), 183-197.

Additional Information Resources

• Genes: The KRT14 gene is associated with a variety of skin diseases, including epidermolysis bullosa simplex, Naegeli-Franceschetti-Jadassohn syndrome, dermatopathia pigmentosa reticularis, and related conditions.
• References and Articles: For more information on the KRT14 gene and its role in these diseases, refer to the following scientific articles:
• – Uitto J, Pulkkinen L. Genodermatoses with defects in the keratin filament network. Genet Med. 2010;12(9):641-7.
• – Lemmink HH, Nijenhuis M, Jonkman MF, et al. Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa. Dermatologica 1995; 190:115–119.
• – Invest Ophthalmol Vis Sci. 2007; 48(2):522-9.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides further information and references on the KRT14 gene and its associated conditions. Visit the website https://www.omim.org for more details.
• Genetic Testing: If you suspect a mutation in the KRT14 gene may be causing your condition or if you have a family history of one of the associated diseases, genetic testing can provide a definitive diagnosis. Consult with a healthcare professional for more information on available testing options.
• Registry: The Epidermolysis Bullosa (EB) registry is a database that collects information on individuals with various types of EB, including those caused by KRT14 gene mutations. This registry can provide support, resources, and connections to researchers and healthcare providers. Visit their website https://www.ebresearch.org for more information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of scientific tests available for the KRT14 gene, which is associated with various skin conditions, including epidermolysis bullosa simplex, Naegeli-Franceschetti-Jadassohn syndrome, and dermatopathia pigmentosa reticularis.

These conditions are caused by changes, or variants, in the KRT14 gene, which produces keratinocytes that form the structural protein keratin. Variants in this gene can lead to abnormalities in the formation of keratin, resulting in skin changes and related health conditions.

In the GTR, you can find information on the test names, condition names, genes tested, and the laboratories that offer these tests. The GTR also provides additional resources such as references, databases, and links to relevant scientific articles.

Some specific tests listed include:

• Epidermolysis Bullosa Simplex, KRT14-Related
• Naegeli-Franceschetti-Jadassohn Syndrome, KRT14-Related
• Dermatopathia Pigmentosa Reticularis, KRT14-Related
• Recurrent Pigmentosa Reticularis

These tests can help in the diagnosis and identification of individuals with these conditions or those at risk of developing them. It is important to consult with a healthcare provider or genetic counselor to understand the implications of these test results and to seek appropriate medical advice and management.

For more information on the KRT14 gene and related conditions, you can visit the Online Mendelian Inheritance in Man (OMIM) database or invest in scientific literature.

Scientific Articles on PubMed

Tests for the KRT14 gene can be listed on PubMed, a database of scientific articles. The gene is known to cause several conditions, including epidermolysis bullosa simplex and dermatopathia pigmentosa reticularis. Scientific articles on PubMed provide information on the genetic changes that can be caused by this gene.

Epidermolysis bullosa simplex and dermatopathia pigmentosa reticularis are both conditions that affect the skin. Epidermolysis bullosa simplex is a condition that causes the formation of blisters and sores on the skin, while dermatopathia pigmentosa reticularis causes changes in the color and texture of the skin. Both conditions are caused by changes in the KRT14 gene.

Other related genes, such as KRT5, have also been identified as causing similar conditions. These genes are produced in keratinocytes, which are a type of cell that forms the structural components of the skin. Changes in these genes can lead to the development of various skin conditions.

PubMed provides a valuable resource for scientists and healthcare professionals to access scientific articles on the KRT14 gene and other related genes. By searching PubMed, researchers can find articles on the genetic changes and conditions caused by these genes. The database also provides additional resources, such as the Online Mendelian Inheritance in Man (OMIM) database, which catalogs information on genetic conditions.

One example of a condition related to the KRT14 gene is Naegeli-Franceschetti-Jadassohn syndrome. This condition is characterized by changes in the skin, including reticularis, or a net-like pattern. The gene variant associated with Naegeli-Franceschetti-Jadassohn syndrome has been studied and documented in scientific articles.

Overall, scientific articles on PubMed provide valuable information on the KRT14 gene and its related genes. These articles help researchers and healthcare professionals understand the genetic basis of various skin conditions and provide insights into potential treatments and testing methods.

Catalog of Genes and Diseases from OMIM

The Keratin 14 (KRT14) gene is associated with various skin conditions. Mutations in this gene can cause changes in the formation of keratinocytes, which are the main cells in the epidermis responsible for the production of keratin filaments. The OMIM catalog provides information about the diseases and conditions related to variants in the KRT14 gene.

One of the conditions caused by changes in the KRT14 gene is called Naegeli-Franceschetti-Jadassohn syndrome. This condition is characterized by changes in the skin pigmentation and the formation of abnormal sweat glands. The OMIM catalog lists additional resources and scientific articles related to this condition.

Another condition related to the KRT14 gene is Dermatopathia Pigmentosa Reticularis, also known as Dohi syndrome. This condition affects the skin and causes changes in the pigmentation, resulting in a reticular pattern. The OMIM catalog provides information on the known genes associated with this condition.

The OMIM catalog also includes other genes and diseases related to skin health, such as Epidermolysis Bullosa Simplex and Keratoderma, Palmoplantar, Bothnian type. These conditions are caused by changes in different genes that are involved in skin formation and maintenance.

For more information on the genes and diseases related to the KRT14 gene, you can refer to the OMIM catalog and other databases such as PubMed. These resources provide scientific articles, references, and testing resources for the investigation of these conditions.

Gene and Variant Databases

The KRT14 gene, also known as keratin 14, is a gene that is involved in the formation of keratin filaments. Mutations in this gene have been found to cause various conditions, such as epidermolysis bullosa simplex, dermatopathia pigmentosa reticularis, and Naegeli-Franceschetti-Jadassohn syndrome. Scientific research and publications regarding these conditions can be found in various gene and variant databases.

One commonly used database is PubMed, which provides a wealth of information on scientific articles related to the KRT14 gene and its associated conditions. This database allows researchers and healthcare professionals to search for specific references and articles pertaining to the gene and its variants.

Another valuable resource is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic conditions, including those related to the KRT14 gene. It provides detailed information on the genetic changes associated with these conditions, along with additional resources and references for further investigation.

The Human Gene Mutation Database (HGMD) is another important tool for researchers studying the KRT14 gene and its variants. This database contains information on known genetic changes in the gene that are associated with various conditions. It includes data from scientific publications, as well as data generated from genetic testing labs and other sources.

For individuals seeking information about their own genetic health, the Genetic Testing Registry (GTR) can be a useful resource. GTR provides a list of genetic tests available for various conditions, including those related to the KRT14 gene. It also provides information on laboratories and healthcare providers offering these tests, along with details about the conditions and genes being tested.

In addition to these databases, there are numerous other resources and databases available that provide information on the KRT14 gene and its variants. These resources can be accessed through online platforms and scientific journals, and are essential for understanding the role of this gene in various diseases and conditions affecting the skin and other tissues.

References

• KRT5 gene – Genetics Home Reference. (https://ghr.nlm.nih.gov/gene/KRT5)
• KRT14 gene – Genetics Home Reference. (https://ghr.nlm.nih.gov/gene/KRT14)
• KRT14 – Keratin, type I cytoskeletal 14 – Homo sapiens (Human) – KRT14 gene & protein. Reviewed- UniProtKB (https://www.uniprot.org/uniprot/P02533)
• Molecular genetics of the intermediate filament cytoskeleton proteins, keratin and vimentin. (https://pubmed.ncbi.nlm.nih.gov/22146795/)
• Catalog of genetic diseases and syndromes. (https://www.omim.org/)
• Naegeli-Franceschetti-Jadassohn syndrome. – DermNet NZ. (https://dermnetnz.org/topics/naegeli-franceschetti-jadassohn-syndrome/)
• Alopecia with perineal skin changes and nail abnormalities, UITTO syndrome. (https://pubmed.ncbi.nlm.nih.gov/7918263/)
• Clinical and molecular genetic characterization of Naegeli-Franceschetti-Jadassohn syndrome. (https://pubmed.ncbi.nlm.nih.gov/11807415/)
• Mutation in the gene encoding the Loricrin (LOR) gene underlies the ichthyotic variant of Vohwinkel syndrome. (https://pubmed.ncbi.nlm.nih.gov/9121741/)
• A novel mutation in the V2 domain of keratin 1 causes generalized epidermolytic hyperkeratosis. (https://pubmed.ncbi.nlm.nih.gov/12406361/)
• Genetic Skin Disorders – A Simple Guide (https://www.lecturio.com/magazine/genetic-skin-disorders/)