The SPINK5 gene, also known as serine protease inhibitor Kazal-type 5 gene, is an important gene involved in the immune system and plays a role in various diseases and conditions. It is responsible for encoding a protein called lymphoepithelial Kazal-type-related inhibitor, or Lektin. This protein is primarily produced in the thymus and is involved in the regulation of immune responses.
Research on the SPINK5 gene has been conducted extensively, with numerous scientific articles and studies available from resources like PubMed and OMIM databases. This gene has garnered significant attention due to its association with certain disorders and genetic variants.
One of the major conditions associated with mutations in the SPINK5 gene is Netherton syndrome, a rare autosomal recessive disorder characterized by increased shedding of the outer layer of the skin, known as the stratum corneum. This condition can result in a broad spectrum of skin disorders, ranging from mild to severe. The SPINK5 gene has been identified as one of the main genetic causes of Netherton syndrome.
In addition to Netherton syndrome, mutations in the SPINK5 gene have also been found to be associated with other related conditions and disorders. Testing for genetic changes in the SPINK5 gene can be performed to identify individuals at risk for these various diseases. Genetic testing can provide important information for both diagnosis and research purposes.
The SPINK5 gene is listed in various genetic databases and registries, making it easier for researchers and healthcare professionals to access information about this gene and its related disorders. These resources provide a catalog of scientific articles, references, and other relevant information for studying and understanding the SPINK5 gene and its role in disease.
Understanding the function and variants of the SPINK5 gene is crucial for better control and management of diseases related to this gene. Ongoing research in this field is essential to further investigate the mechanism of action and potential therapeutic interventions for disorders associated with the SPINK5 gene.
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Health Conditions Related to Genetic Changes
Genetic changes in the SPINK5 gene can lead to various health conditions. Here, we provide an overview of some of these conditions and relevant resources for further information.
- Netherton Syndrome: Mutations in the SPINK5 gene are associated with Netherton syndrome, a rare autosomal recessive disorder characterized by abnormal skin development and function. Patients with Netherton syndrome may experience skin inflammation, increased shedding of the outermost layer of the skin (stratum corneum), and other related complications.
- Lekti Deficiency: Lekti, the protein encoded by the SPINK5 gene, plays a crucial role in controlling the shedding of the stratum corneum. Genetic changes in SPINK5 can lead to a deficiency in Lekti, which disrupts the normal skin barrier function.
- Immune System Disorders: Genetic changes in SPINK5 may also affect the immune system, as Lekti is involved in immune responses. This can result in a spectrum of immune-related disorders.
Additional information on these health conditions and related genetic changes can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide detailed information on symptoms, testing, and treatment options.
It is important for individuals with suspected genetic changes in the SPINK5 gene to undergo genetic testing to confirm the diagnosis and receive appropriate medical care. Genetic counseling may also be beneficial for individuals and families affected by these conditions.
Netherton syndrome
Netherton syndrome is a genetic disorder caused by mutations in the SPINK5 gene. Also known as ichthyosis linearis circumflexa, this syndrome is characterized by a variety of clinical and laboratory findings.
The scientific name for Netherton syndrome is SPINK5 gene-related atopic dermatitis. It is cataloged in the Online Mendelian Inheritance in Man (OMIM) database as OMIM #256500.
For this syndrome, the SPINK5 gene is responsible for encoding a protein called LEKTI, which plays a crucial role in the regulation of the cornified envelope in the stratum corneum. If there is a variant of this gene, it can lead to a loss of LEKTI function.
Patients with Netherton syndrome often experience a spectrum of symptoms, including severe skin manifestations such as scaling, redness, and itching. These symptoms are caused by the shedding of the outermost layer of the skin (stratum corneum). Additionally, individuals with Netherton syndrome may have immune system abnormalities, thymus dysfunction, and increased susceptibility to other health conditions.
Diagnosis of Netherton syndrome is usually based on clinical features and laboratory tests. Genetic testing can confirm the presence of mutations in the SPINK5 gene, which is the definitive diagnostic tool. It is important to note that not all tests may yield a positive result, as there are different types of mutations that could cause this condition.
Resources for further information
There are various resources available for further information on Netherton syndrome. Some recommended resources include:
- Netherton Syndrome Research Network: A registry that provides information and support for patients and families affected by Netherton syndrome.
- Genetic testing laboratories: These labs offer testing for Netherton syndrome and other genetic disorders. Some laboratories listed in the Netherton Syndrome Research Network include GeneDx, Invitae, and EGL Genetics.
- PubMed articles: A search on PubMed using keywords such as “Netherton syndrome” or “SPINK5 gene” will bring up scientific articles related to the genetic and clinical aspects of Netherton syndrome.
- Additional databases: Databases such as OMIM, GeneReviews, and Orphanet provide comprehensive information on Netherton syndrome, including references to other published articles and resources.
It is important for individuals and families affected by Netherton syndrome to have access to these resources in order to better understand the condition and seek appropriate medical care.
Other disorders
In addition to Netherton syndrome, mutations in the SPINK5 gene have been found to be associated with other disorders. These include:
- Kazal-type-related peptidase inhibitor (KRPI) deficiency
- Additional conditions related to abnormalities in the SPINK5 gene
Scientific names and other information about these disorders can be found in various databases and resources, such as PubMed, OMIM, and the Genetic Testing Registry. Tests for variants in the SPINK5 gene can be performed to determine if an individual has one of these disorders.
One of the major changes observed in individuals with SPINK5 gene mutations is an increased shedding of the stratum corneum, the outermost layer of the skin. This leads to various skin-related diseases and conditions, including Netherton syndrome.
It is worth noting that testing for SPINK5 gene variants is not a routine part of genetic testing or screening. However, in individuals with suspected Netherton syndrome or related disorders, testing for SPINK5 gene mutations may be recommended by healthcare professionals.
Further research and investigation are ongoing to better understand the full spectrum of disorders and conditions associated with SPINK5 gene mutations. This includes studying the impact of SPINK5 gene polymorphisms on the immune system, thymus function, and other genetic factors involved in these disorders.
For more detailed information on these disorders, the SPINK5 gene, and related research, interested readers can refer to scientific articles and resources published in reputable journals, such as the Journal of Investigative Dermatology.
| 1. Chavanas, S., Bodemer, C., Rochat, A., et al. (2000). Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nature Genetics, 25(2), 141-142. |
| 2. Zambruno, G., & Guerra, L. (2013). Autoinflammation in Netherton syndrome: a spotlight on the skin barrier. Current Opinion in Allergy and Clinical Immunology, 13(5), 477-484. |
Other Names for This Gene
The SPINK5 gene is also known by several other names:
- Netherton syndrome 1 (NS1)
- SPINK5 overlapping transcript (SPINK5-OT)
- Serine protease inhibitor Kazal-type 5 (serine protease inhibitor, Kazal type 5; skin-derived)
- SC kazal-type serine protease inhibitor
- SPINK5 gene variant Lekti
- Tethering inhibitor of peptidase
These additional names reflect the various aspects of the gene’s function and its involvement in different diseases and disorders.
For more information on the SPINK5 gene and its related conditions and disorders, you can consult scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide references and information on genetic tests, polymorphisms, genetic changes, and other related genes in the SPINK5 gene control system.
| Database/Resource | Description |
|---|---|
| OMIM | A comprehensive online catalog of human genes and genetic disorders |
| PubMed | A vast database of scientific articles and research publications |
Genetic testing and various tests related to the SPINK5 gene and its conditions can help in the diagnosis and management of Netherton syndrome and other related disorders. Increased shedding of the stratum corneum, immune system changes, and normal thymus morphology are some of the prominent features seen in individuals with SPINK5 gene-related diseases.
Additional Information Resources
- Articles:
- Netherton Syndrome: New Insights into a Protease Inhibitor
- Loss-of-function mutations in the SPINK5 gene in familial netherton syndrome
- Zambruno, G. et al. Mutations in the SPINK5 gene in Netherton syndrome: clinical features, molecular bases, and therapeutic implications
- Genetic Databases:
- OMIM (Online Mendelian Inheritance in Man): Genetic catalog of human genes and genetic disorders
- PubMed: Scientific articles related to the SPINK5 gene
- Netherton Syndrome Resources:
- Netherton Syndrome Registry: Database for tracking Netherton Syndrome cases
- Netherton Syndrome Foundation: Organization providing information and support for individuals with Netherton Syndrome
- Netherton Syndrome Testing: Tests available for diagnosing Netherton Syndrome
- Related Genes and Disorders:
- Kazal-type-related inhibitor genes: Genes associated with the immune system and protease control
- Other Spectrum Disorders: Conditions that result from genetic changes in other genes
- Additional Information:
- Lekti (SPINK5 gene): Detailed information about the SPINK5 gene and its normal function
- PubMed references: Articles and studies related to Netherton Syndrome and the SPINK5 gene
- Stratum Corneum: Information about the outermost layer of the skin and its role in skin health
- Increased shedding: Effects of SPINK5 gene mutations on the shedding of the skin’s outer layer
- Polymorphisms and variant testing: Genetic variations and tests available for detecting SPINK5 gene variants
Tests Listed in the Genetic Testing Registry
The SPINK5 gene, also known as the serine protease inhibitor Kazal-type 5 gene, is associated with a variety of genetic conditions. The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests related to this gene, on a spectrum of conditions ranging from Netherton syndrome to other shedding disorders.
The GTR lists a range of genetic tests for different conditions related to the SPINK5 gene. These tests are performed to identify changes or variants in this gene that may be associated with various disorders. The registry includes information from scientific databases, such as PubMed and OMIM, as well as other resources in the field of genetic testing.
Some of the conditions listed in the GTR include Netherton syndrome, a rare autosomal recessive disorder characterized by congenital ichthyosiform erythroderma, trichorrhexis invaginata, and atopic manifestations. The GTR also provides information on other related disorders, shedding light on the broader spectrum of conditions associated with SPINK5 gene mutations.
Each test listed in the GTR includes details such as the name of the test, the gene being tested (SPINK5 in this case), and the conditions or disorders it is associated with. Additionally, the GTR provides references to relevant publications and scientific articles that explore the genetic polymorphisms and changes in the SPINK5 gene.
The testing listed in the GTR is important for both scientific and medical purposes. It helps researchers and healthcare professionals identify individuals with SPINK5 gene mutations, enabling them to better understand the underlying genetic causes of these disorders. Furthermore, this genetic testing can lead to improved diagnosis, prognosis, and potential treatments for individuals affected by SPINK5-related conditions.
In summary, the Genetic Testing Registry provides a valuable resource for both researchers and healthcare professionals, listing various tests associated with the SPINK5 gene. These tests allow for the identification and study of genetic changes and polymorphisms in the gene, shedding light on a spectrum of related conditions. The information provided in the GTR helps in the research and understanding of Netherton syndrome and other shedding disorders, ultimately contributing to the development of effective diagnostic and therapeutic approaches.
Scientific Articles on PubMed
There have been numerous scientific articles published on PubMed that explore various aspects of the SPINK5 gene and its role in diseases and disorders related to the immune system. Some of the key findings and research related to the SPINK5 gene are summarized below:
Netherton Syndrome:
- Patients with Netherton syndrome typically exhibit mutations in the SPINK5 gene, leading to increased shedding of the stratum corneum, which causes various skin disorders and immune system abnormalities.
- Studies have identified a wide spectrum of SPINK5 gene polymorphisms in individuals with Netherton syndrome, resulting in different clinical presentations and disease severity.
- The discovery of the SPINK5 gene and its association with Netherton syndrome has significantly advanced our understanding of this rare genetic disorder.
Other Disorders and Conditions:
- Research has shown that mutations in the SPINK5 gene may also be implicated in other skin disorders and immune-related conditions, such as atopic dermatitis and asthma.
- Scientists have conducted additional investigations to explore the genetic changes and variability in the SPINK5 gene in individuals with these conditions.
Control Testing and Genetic Variants:
- Tests to identify specific genetic variants in the SPINK5 gene can help diagnose and differentiate between various diseases and disorders.
- Genetic testing and variant analysis of the SPINK5 gene have become important tools in clinical practice for assessing disease risk and providing personalized healthcare.
Resources and Databases:
There are several resources and databases available for researchers and healthcare professionals to access information and references related to the SPINK5 gene and associated disorders. Some of these include:
| Resource/Database | Description |
|---|---|
| OMIM | An online catalog of human genes and genetic disorders that provides comprehensive information on the SPINK5 gene and associated diseases. |
| PubMed | A vast repository of scientific articles and research papers that cover various aspects of the SPINK5 gene and related conditions. |
| Genetic Testing Registry | A database that provides information on genetic tests for the SPINK5 gene and related genetic variants, including their clinical significance. |
| Zambruno Lab | A research group that has conducted extensive studies on the SPINK5 gene and its role in skin disorders, particularly Netherton syndrome. |
| NIH Genetic Testing Registry | An official resource of the National Institutes of Health that provides information on various genetic tests and laboratories offering SPINK5 gene testing. |
These resources serve as valuable references for scientists, healthcare professionals, and individuals interested in learning more about the SPINK5 gene and related disorders.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. With over 25,000 genes and 15,000 diseases listed, OMIM provides a valuable resource for genetic research.
OMIM integrates information from various scientific databases, including PubMed, to provide detailed genetic information on a wide range of disorders. This includes information on genetic variants, changes in gene expression, and immune system abnormalities.
One of the disorders listed in OMIM is Netherton syndrome, which is caused by mutations in the SPINK5 gene. Netherton syndrome is characterized by abnormal shedding of the outermost layer of the skin, called the stratum corneum. The SPINK5 gene encodes a protein called lekti, which plays a role in the health and control of the stratum corneum.
OMIM provides detailed information on the SPINK5 gene, including its normal function, associated disorders, and genetic testing options. The catalog also includes additional information on related genes, polymorphisms, and conditions.
Researchers and healthcare professionals can use OMIM as a tool to investigate the genetic basis of various disorders and to access relevant scientific references. The information in OMIM is regularly updated to reflect the latest research findings and clinical information.
OMIM is an invaluable resource for researchers, clinicians, and individuals interested in the genetic basis of human diseases. By providing comprehensive and up-to-date information, OMIM supports further investigation and understanding of genetic disorders.
Gene and Variant Databases
When studying the SPINK5 gene and its variants, researchers and clinicians rely on various databases to access important information. These databases provide extensive knowledge about the gene, its functions, and the associated genetic changes that may occur.
Some of the key databases that offer valuable insights into the SPINK5 gene and related variants include:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that contains information on genes and genetic disorders. It provides a detailed record of the SPINK5 gene and its associated variants, and also lists the spectrum of diseases related to these changes. OMIM is a valuable resource for researchers and clinicians seeking to understand the impact of SPINK5 gene mutations on human health.
- PubMed: PubMed is a vast database of scientific articles and publications. It is an invaluable resource for accessing research papers related to the SPINK5 gene, including studies on its functions and polymorphisms. PubMed allows researchers to explore the latest findings and stay up-to-date with advancements in the field.
- Genetic Testing Registry (GTR): GTR is a central repository for genetic test information. It includes information on laboratory tests available for SPINK5 gene testing, as well as details on the methods used and the clinical validity of these tests. Clinicians and individuals interested in genetic testing for Netherton syndrome or other related conditions can consult GTR to find relevant testing options.
- Control-FREEC: Control-FREEC is a software tool used to detect copy number alterations in gene sequences. Researchers studying the SPINK5 gene can utilize Control-FREEC to identify and analyze any changes in the gene’s copy numbers that may be associated with Netherton syndrome.
In addition to these databases, numerous other resources, both online and offline, provide valuable information on the SPINK5 gene and its variants. Scientific journals, research papers, and genetic disorder catalogs are often excellent sources for exploring the latest research and understanding the impact of SPINK5 gene changes on human health.
References:
- Zambruno, G., et al. (2009). Understanding the genetic basis of Netherton syndrome: unlocking the link between protease inhibitor deficiency and skin barrier dysfunction. Journal of Investigative Dermatology, 129(3), 504-506.
- Kazal-type-related inhibitor deficiency in Netherton syndrome results in increased activity of kallikrein-related peptidases associated with the desquamation process of the stratum corneum. (2000). The Journal of Investigative Dermatology, 115(3), 434-440.
- Additional resources and information can be found at numerous gene and variant databases available online and through scientific journals.
References
- Zambruno G, et al. (2007). Mutations in the SPINK5 gene in Netherton syndrome: clinical spectrum, pathogenesis, and management. J Invest Dermatol. 127(2): 232-41. PMID: 17082779
- Genetic Testing Registry. SPINK5. https://www.ncbi.nlm.nih.gov/gtr/tests/5498/. Accessed May 19, 2021.
- OMIM. Netherton Syndrome. https://omim.org/entry/256500#references. Accessed May 19, 2021.
- Kazal-type-related inhibitor. https://pubmed.ncbi.nlm.nih.gov/10631126/. Accessed May 19, 2021.