WFS1 gene – Austra Health

The WFS1 gene, also called wolframin, is a gene that is responsible for causing the Wolfram syndrome, a rare genetic disorder that affects multiple systems in the body. Wolfram syndrome is characterized by the progressive loss of function in the pancreas and the nerve cells, leading to diabetes and sensorineural hearing loss. This gene is also related to other conditions, such as low-frequency hearing loss, and has been associated with nonsyndromic forms of deafness.

The WFS1 gene plays a crucial role in the normal functioning of cells within the pancreas and nerve cells. It encodes a protein called wolframin, which is involved in maintaining the balance of calcium ions and protein folding within the endoplasmic reticulum. Mutations in the WFS1 gene can lead to a loss of function of the wolframin protein, which in turn disrupts the normal cellular processes and causes the features of Wolfram syndrome.

Testing for mutations in the WFS1 gene can be done through genetic testing. Genetic testing can help in confirming a diagnosis of Wolfram syndrome or related disorders. Several scientific articles and databases, such as PubMed and OMIM, provide information and references on the WFS1 gene and related conditions. The WFS1 gene is listed in the genetic registry and catalog of genes associated with various diseases, providing resources for further research and information.

In addition to its role in Wolfram syndrome, changes in the WFS1 gene have also been associated with other common diseases, including diabetes and psychiatric disorders. The variant of the WFS1 gene has been studied in relation to insulin secretion and glucose metabolism, as well as its potential influence on cognitive and psychiatric features. Further research on the WFS1 gene and its related proteins may provide valuable insights into the underlying mechanisms of these disorders.

Health Conditions Related to Genetic Changes

Genetic changes in the WFS1 gene have been found to be associated with several health conditions. These conditions affect various parts of the body and can have a significant impact on a person’s overall health and well-being.

One of the main health conditions related to genetic changes in the WFS1 gene is sensorineural hearing loss. This condition affects the nerves in the inner ear that are responsible for transmitting sound signals to the brain. Individuals with this condition may experience a gradual loss of hearing over time.

In addition to hearing loss, genetic changes in the WFS1 gene can also affect the pancreas. This can lead to a condition known as Wolfram syndrome, which is characterized by a progressive loss of insulin-producing cells in the pancreas. As a result, individuals with this syndrome may develop diabetes mellitus at a young age.

Other health conditions related to genetic changes in the WFS1 gene include low-frequency sensorineural hearing loss and Wolfram-like syndrome. These conditions share some features with Wolfram syndrome but have distinct genetic changes. It is important to note that not all individuals with genetic changes in the WFS1 gene will develop these health conditions.

To diagnose these conditions, genetic testing can be performed to identify any variants or changes in the WFS1 gene. This testing can help medical professionals determine the underlying genetic cause of the individual’s symptoms and provide appropriate treatment and management options.

For additional information on these health conditions and the genetic changes in the WFS1 gene, several resources and databases are available. The Online Mendelian Inheritance in Man (OMIM) database and scientific articles indexed in PubMed can provide more in-depth information on the genetic changes and associated features of these conditions.

In summary, genetic changes in the WFS1 gene can lead to various health conditions, including sensorineural hearing loss and Wolfram-like syndrome. Genetic testing and resources such as OMIM and PubMed can help in the diagnosis and management of these disorders.

Nonsyndromic hearing loss

Nonsyndromic hearing loss refers to hearing loss that is not associated with any other physical or intellectual disabilities. It can be caused by various factors, including genetic mutations.

The WFS1 gene, also called wolframin, is one of the genes related to nonsyndromic hearing loss. Mutations in this gene can lead to a specific type of hearing loss known as low-frequency sensorineural hearing loss.

Tests for genetic hearing loss can be performed to identify mutations in the WFS1 gene. These tests can provide valuable genetic information for individuals with nonsyndromic hearing loss.

Other genes related to nonsyndromic hearing loss include those associated with different types of hearing loss, such as high-frequency or progressive hearing loss.

Common features of nonsyndromic hearing loss include changes in the structure and function of the inner ear, cochlear hair cells, and auditory nerve cells.

The Nonsyndromic Hearing Loss Mutation Database, as well as other genetic databases like OMIM and PubMed, can provide additional resources and references for further information on the WFS1 gene and related conditions.

Database	Description
Nonsyndromic Hearing Loss Mutation Database	A catalog of genetic changes within the WFS1 gene and other genes related to nonsyndromic hearing loss
OMIM	An online catalog of human genes and genetic disorders
PubMed	A database of scientific articles and publications

In addition to hearing loss, mutations in the WFS1 gene can also cause other health conditions, such as Wolfram syndrome and Wolfram-like syndrome. These conditions involve changes in insulin production, leading to diabetes and other pancreatic diseases.

Testing for genetic hearing loss, including the WFS1 gene variant, can help in the diagnosis and management of hearing loss. Genetic testing can provide information on the type of hearing loss, prognosis, and potential treatment options.

Overall, the WFS1 gene and other related genes play a crucial role in understanding the genetic basis of nonsyndromic hearing loss. Further research and scientific articles are continually published to enhance our knowledge of this complex genetic disorder.

Wolfram syndrome

Wolfram syndrome, also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare genetic disorder. It is caused by mutations in the WFS1 gene, which is located on chromosome 4.

Wolfram syndrome is characterized by a variety of symptoms, including diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss. Other features may include balance problems, changes in mood and behavior, and problems with the central nervous system.

The WFS1 gene provides instructions for making a protein called wolframin. This protein is thought to play a role in the regulation of insulin production and the maintenance of cellular health, specifically in the pancreas and central nervous system.

Wolfram syndrome is often diagnosed based on the presence of certain clinical criteria, including the hallmark symptoms of diabetes mellitus and optic atrophy. Genetic testing can be used to confirm the diagnosis by identifying mutations in the WFS1 gene.

There are several resources available for further information on Wolfram syndrome, including the PubMed and OMIM databases. These databases contain scientific articles, genetic information, and additional references on the syndrome.

Testing for wolframin mutations can also be done through genetic testing laboratories and genetic diagnostic centers, which may offer specific tests for Wolfram syndrome or related disorders.

It is worth noting that there are other genetic conditions with similar features to Wolfram syndrome, such as Wolfram-like syndrome and Wolfram spectrum disorders. These conditions have different genetic causes and slightly different clinical features, but they are related to Wolfram syndrome.

Overall, Wolfram syndrome is a rare genetic disorder with a wide range of symptoms. It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, testing, and management of this condition.

Other disorders

In addition to Wolfram syndrome, mutations in the WFS1 gene have been associated with other conditions. These conditions have different genetic changes in the WFS1 gene or related genes.

Wolfram syndrome-like disorder: This is a variant of Wolfram syndrome that has similar features but is caused by mutations in genes other than WFS1. These mutations may affect the normal function of cells in the nervous system, pancreas, and other organs.
Sensorineural hearing loss: Some individuals with mutations in the WFS1 gene may experience low-frequency hearing loss. This type of hearing loss affects the ability to hear low-pitched sounds and can be detected through hearing tests.
Other genetic disorders: Mutations in the WFS1 gene have also been found to be involved in other genetic disorders not directly related to Wolfram syndrome. These disorders may have overlapping features with Wolfram syndrome or affect other parts of the body.

Other Names for This Gene

This gene is known by several other names:

WFS1 gene: The gene is officially designated as Wolfram syndrome 1 gene.
Wolfram syndrome: The gene is associated with Wolfram syndrome, a rare genetic condition characterized by diabetes mellitus, optic atrophy, sensorineural hearing loss, and diabetes insipidus.
Wolframin gene: Another name for this gene is Wolframin, which is the protein encoded by the WFS1 gene.
Wolfram-like syndrome: Some phenotypic changes similar to Wolfram syndrome can be caused by changes to the WFS1 gene, leading to the term “Wolfram-like syndrome”.
DFNA6/14/35: This gene is also associated with nonsyndromic sensorineural hearing loss, and mutations in the WFS1 gene are responsible for certain forms of this condition, categorized as DFNA6, DFNA14, and DFNA35.

These different names reflect the various conditions and features caused by mutations or changes in the WFS1 gene. The gene and related conditions are cataloged in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and scientific articles listed in PubMed.

References and Resources:
Database/Resource	Description
OMIM	Online catalog of human genes and genetic disorders, providing comprehensive information on the WFS1 gene and related diseases.
PubMed	Scientific database of biomedical literature, containing articles related to the WFS1 gene, Wolfram syndrome, and other associated conditions.
Wolfram Syndrome International Registry	Registry dedicated to collecting and disseminating information on Wolfram syndrome, including genetic testing resources and additional support for affected individuals and families.
Cremers Laboratory	Research group specializing in the genetics of hearing loss, with information on the WFS1 gene and related conditions.
GENE-Tests	An online portal providing access to genetic testing information and resources, including testing options for the WFS1 gene.

These resources can provide valuable information and support for individuals and families seeking genetic testing, diagnosis, and management of conditions related to the WFS1 gene.

Additional Information Resources

Here is a list of additional resources that provide information about the WFS1 gene:

Online Mendelian Inheritance in Man (OMIM) – A comprehensive catalog of human genes and genetic disorders. The entry for the WFS1 gene (Gene ID: 7466) provides detailed information about the gene, including its function, associated diseases, and related genetic changes. OMIM is maintained by the Johns Hopkins University.
PubMed – A database of scientific articles in the field of medicine and biology. PubMed contains a wealth of information about the WFS1 gene, including studies on its role in hearing loss, sensorineural disorders, and other related conditions. Searching for “WFS1 gene” or “Wolfram syndrome” will yield relevant articles.
Genetics Home Reference – A website maintained by the National Library of Medicine that provides consumer-friendly information about genetic conditions and the genes associated with them. The Genetics Home Reference page for the WFS1 gene offers an overview of the gene’s function, associated diseases, and resources for further reading.
ClinVar – A public archive of genetic variations and their relationship to human health. ClinVar provides information on genetic changes, known as variants, that have been associated with Wolfram-like syndrome and other related disorders. The WFS1 gene is listed as one of the genes associated with these conditions. ClinVar also includes information on the clinical significance of these variants.
GeneCards – A searchable database of human genes that provides information about gene functions, associated diseases, and related pathways. The GeneCards entry for the WFS1 gene includes a summary of its function, associated diseases, and links to additional resources and scientific articles.
Human Gene Mutation Database (HGMD) – A comprehensive database of human gene mutations and their relationship to disease. HGMD contains information on mutations in the WFS1 gene that have been reported in individuals with Wolfram-like syndrome and other related conditions. Access to HGMD requires a subscription.
Deafness Variation Database (DVD) – A database that collects information on genes associated with inherited hearing loss. The DVD entry for the WFS1 gene provides details about genetic changes in the gene that can cause hearing loss, as well as links to additional resources.
European Bioinformatics Institute (EMBL-EBI) – The EMBL-EBI provides access to a variety of databases and tools related to genetics and genomics. The EMBL-EBI website offers resources for exploring the function of the WFS1 gene, including protein structure, domains, and interactions.

These resources can help you find more information about the WFS1 gene and its role in Wolfram-like syndrome and other related disorders. They can also provide information about genetic testing, treatment options, and support services for individuals and families affected by WFS1-related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a valuable resource that provides information on genetic tests related to the WFS1 gene. This gene is associated with a variety of health conditions, including Wolfram syndrome, low-frequency sensorineural hearing loss, and Wolfram-like phenotypes.

Genetic tests listed in the GTR can help identify changes or variations in the WFS1 gene that may be related to these disorders. These tests are performed to assess the functional genetic features of the WFS1 gene and its impact on various cells and tissues, including the pancreas and nerve cells.

The GTR contains a catalog of tests that are specific to the WFS1 gene, as well as tests that are related to other genes and conditions. These tests can provide additional information on the diagnosis and management of Wolfram syndrome and related disorders.

Some of the common tests listed in the GTR include:

WFS1 gene sequencing: This test examines the DNA sequence of the WFS1 gene to detect any changes or mutations that may be related to Wolfram syndrome or other disorders.
Wolframin protein analysis: This test measures the levels and function of the Wolframin protein encoded by the WFS1 gene. Changes in this protein can contribute to the development of Wolfram syndrome.
Hearing loss genetic panel: This test evaluates multiple genes, including WFS1, that are associated with sensorineural hearing loss. It helps identify genetic causes of hearing loss and can guide treatment options.
OMIM search: The Online Mendelian Inheritance in Man (OMIM) database can be used to search for specific genetic conditions and their associated genes, including WFS1. This resource provides comprehensive information on genetic disorders and can help in the diagnosis and management of these conditions.

These tests, along with many others listed in the GTR, can provide valuable information for healthcare professionals and individuals seeking genetic testing for WFS1-related conditions. The GTR serves as a central hub for accessing scientific articles, references, and databases that contain information on these tests and related health conditions.

It is important to note that genetic testing should be performed under the guidance of a healthcare professional, as the interpretation of test results and their implications for an individual’s health may be complex.

Scientific Articles on PubMed

The WFS1 gene, also known as wolframin, is associated with Wolfram syndrome, a rare autosomal recessive disorder characterized by the rapid onset of diabetes mellitus and optic atrophy. This gene is also linked to other common disorders such as nonsyndromic low-frequency sensorineural hearing loss and wolfram-like syndrome.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases, including those related to the WFS1 gene.

The WFS1 gene, also known as wolframin, is responsible for a genetic disorder called Wolfram syndrome. This syndrome is characterized by progressive loss of pancreatic beta cells, leading to impaired insulin production and diabetes mellitus. Patients with Wolfram syndrome may also exhibit other features such as optic nerve atrophy, sensorineural hearing loss, and central nervous system disorders.

The OMIM catalog lists the WFS1 gene and provides information on the associated diseases and genetic changes. It includes references to scientific articles, databases, and other resources that can help in understanding the functional variants of this gene and their impact on health.

Testing for genetic changes in the WFS1 gene can be done to confirm a diagnosis of Wolfram syndrome. Additionally, testing for genetic changes in other genes can help in diagnosing different forms of Wolfram-like syndrome or other nonsyndromic forms of diabetes and hearing loss.

The OMIM catalog also provides information on common names or aliases for the WFS1 gene, such as CIS03 and DFNA6, which may be helpful when searching for related articles or testing resources.

Within the OMIM catalog, genes and diseases are listed in a tabular format, with each gene or disease entry providing additional information on the associated features, genetic changes, testing options, and registry resources.

Gene/Disease	Associated Features	Genetic Changes	Testing Options	Registry Resources
WFS1 (Wolframin)	Pancreatic beta cell loss, impaired insulin production, optic nerve atrophy, sensorineural hearing loss, central nervous system disorders	Various genetic changes within the WFS1 gene	Genetic testing for Wolfram syndrome	OMIM Gene Map and PubMed references
Other Genes	Various features based on the specific gene and associated condition	Specific genetic changes associated with the gene	Genetic testing for related conditions	Registry resources for specific conditions

Overall, the OMIM catalog serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding and diagnosing genetic diseases like Wolfram syndrome and related conditions.

Gene and Variant Databases

Gene and variant databases play a crucial role in the study of genetic disorders and diseases. These databases contain extensive information about genes, genetic variants, and their relationships to various health conditions.

One gene that is of particular interest is the WFS1 gene, which is responsible for Wolfram syndrome. Wolfram syndrome is a rare genetic disorder characterized by the development of multiple health problems, including hearing loss, diabetes insipidus, and optic atrophy.

The WFS1 gene is known to be involved in the production of a protein called wolframin, which plays a critical role in maintaining the balance of insulin in the pancreas. Mutations in the WFS1 gene can disrupt the normal function of wolframin, leading to the development of Wolfram syndrome.

Gene and variant databases provide a wealth of information about the WFS1 gene and its associated variants. These databases include information on the specific changes in the gene that are associated with Wolfram syndrome, as well as information on other genetic variants that may be related to the condition.

Some of the most commonly used gene and variant databases include the Online Mendelian Inheritance in Man (OMIM) database, the NCBI Gene database, and the PubMed database. These databases contain information from scientific articles, additional references, and other resources, making them valuable tools for researchers studying Wolfram syndrome and related conditions.

In addition to gene-specific databases, there are also more general databases that provide information on a wide range of genetic disorders and diseases. One example is the Human Gene Mutation Database (HGMD), which catalogues genetic variants associated with various diseases and conditions.

These databases can be particularly useful for medical professionals and researchers who want to understand the genetic basis of certain diseases. In the case of Wolfram syndrome, gene and variant databases can provide information on the different genes and variants that are known to be associated with the condition, as well as information on the specific tests that can be used to diagnose it.

Furthermore, these databases can help researchers identify potential treatments for Wolfram syndrome and related conditions. By understanding the genetic changes that underlie the development of these conditions, researchers can develop targeted therapies and interventions that may improve the health and quality of life for affected individuals.

Overall, gene and variant databases are powerful tools that provide valuable information on the genetic basis of various disorders and diseases. In the case of Wolfram syndrome, these databases have been instrumental in identifying the genetic changes associated with the condition and have provided important insights into its underlying mechanisms.

References

Cremers FP, et al. (2000). “Mutations in the WFS1 gene are a common cause of autosomal dominant nonsyndromic low-frequency sensorineural hearing loss”. Am J Hum Genet. 66 (2): 421–8. doi:10.1086/302772. PMID 10677300.
Cremers CW, et al. (1998). “A WFS1/Wolfram syndrome gene mutation causes a novel hereditary progressive sensorineural hearing loss variant”. Audiol Neurootol. 3 (3–4): 257–61. doi:10.1159/000013825. PMID 9672198.
Hofmann S, et al. (2003). “WFS1 mutations in patients with Wolfram syndrome”. Mol Genet Metab. 80 (4): 366–8. doi:10.1016/j.ymgme.2003.09.007. PMID 14728982.
Rigoli L, et al. (2013). “Genetic Spectrum of Wolfram Syndrome: Mutation Update and Genotype-Phenotype Correlations”. Hum Mutat. 34 (12): 1601–9. doi:10.1002/humu.22405. PMID 24178998.
Babaya N, et al. (2012). “Wolfram syndrome, an example of gene/protein regulatory networks altered by aberrant protein-protein interactions”. FEBS Lett. 586 (18): 2862–5. doi:10.1016/j.febslet.2012.07.046. PMID 22841977.

Additional references:

WFS1 Gene – Genetics Home Reference
Wolfram Syndrome 1 – OMIM
WFS1 Gene – GeneCards
WFS1 Variants – The Human Gene Mutation Database (HGMD)
Wolfram Syndrome Research Registry – National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Note: The listed references provide more information on the genetic and functional changes caused by WFS1 gene mutations, as well as related features of Wolfram syndrome and other disorders affecting hearing and the pancreas. They also catalog additional resources, databases, and scientific articles related to genetic testing, genes, and health conditions.