STRC gene – Austra Health

The STRC gene, also known as stereocilin gene, is a gene that plays a crucial role in hearing. Mutations in this gene can lead to various types of hearing loss and other related conditions. This gene is located on chromosome 15 in the 15q15.3 region.

Loss of function mutations in the STRC gene are associated with a nonsyndromic hearing impairment. This type of hearing loss is characterized by sensorineural deafness, which is caused by abnormalities in the structure or function of the inner ear or the auditory nerve. The STRC gene is involved in the formation and maintenance of the stereocilia, which are small hair-like structures in the inner ear that detect sound waves and convert them into electrical signals that can be interpreted by the brain.

There are currently no known diseases or conditions listed on the Online Mendelian Inheritance in Man (OMIM) database that are specifically caused by mutations in the STRC gene. However, additional information and literature on this gene can be found in the OMIM database, as well as in other scientific publications and databases.

Genetic testing can be used to identify changes or mutations in the STRC gene and to determine if they are related to deafness or other genetic conditions. There are several genetic tests available that can specifically target the STRC gene and provide valuable information for diagnosis, prognosis, and management of individuals with hearing impairment.

References and resources for the STRC gene and related conditions can be found in scientific articles and databases such as PubMed and the Genetic Testing Registry. These resources can provide more in-depth information on the gene, its functions, associated diseases, and the latest research in the field of genetics and hearing impairment.

Health Conditions Related to Genetic Changes

Genetic changes can lead to various health conditions, including sensorineural hearing loss, infertility, and other diseases. The STRC gene is one of the genes related to these conditions.

Sensorineural hearing loss is a condition that affects the ability to hear sounds. It is caused by changes in the structure or function of the inner ear, specifically the nerve cells that transmit sound waves to the brain. The STRC gene is associated with nonsyndromic hearing loss, which means that it is not accompanied by other symptoms or health problems.

Changes in the STRC gene can lead to a variant of hearing impairment known as DFNB16. This condition is characterized by profound hearing loss that affects both ears. Individuals with DFNB16 may have difficulty understanding speech and communicating effectively.

There are scientific resources and databases available to provide additional information on health conditions related to changes in the STRC gene. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are two such resources. They provide a catalog of genetic conditions, including deafness and infertility, and list scientific articles and references for further reading.

Genetic testing can be done to detect changes in the STRC gene and diagnose related conditions. This testing may involve analyzing DNA samples to look for specific genetic variants or deletions in the gene region. The results can help healthcare professionals determine the cause of a person’s health condition and develop appropriate treatment plans.

In addition to STRC, other genes are also involved in health conditions related to genetic changes. The Male Infertility Gene (MIG) catalog, for example, lists genes associated with male infertility. These genes play a role in sperm development and function.

Understanding the genetic basis of health conditions can provide important insights for diagnosis, treatment, and prevention. By studying the genes and genetic changes related to diseases, scientists can develop targeted therapies and interventions to improve patient outcomes and quality of life.

Resources for Health Conditions Related to Genetic Changes:
Resource	Description
Online Mendelian Inheritance in Man (OMIM)	A comprehensive database of genetic conditions, including deafness and infertility.
PubMed	A database of scientific articles and references related to health conditions and genetic changes.
Male Infertility Gene (MIG) catalog	A catalog of genes associated with male infertility, providing information on sperm development and function.

By utilizing these resources and conducting further research, healthcare professionals can stay updated on the latest scientific advancements and provide optimal care for individuals with health conditions related to genetic changes.

Nonsyndromic hearing loss

Nonsyndromic hearing loss is a genetic condition characterized by the impairment or loss of hearing, without any other associated abnormalities or conditions. It is a scientific term used to describe a group of genetic disorders that affect the ability to hear.

The STRC gene has been found to be associated with nonsyndromic hearing loss. This gene provides instructions for making a protein called stereocilin, which is important for the structure and function of hair cells in the inner ear. Hair cells convert sound waves into electrical signals that are then sent to the brain to be interpreted as sound.

Changes in the STRC gene can lead to the production of a nonfunctional protein or a protein that is not produced at all. These changes can disrupt the normal structure and function of stereocilin, resulting in hearing loss. Different variants in this gene can cause different degrees of hearing impairment.

Nonsyndromic hearing loss can be inherited in different ways, including autosomal recessive and autosomal dominant patterns. In autosomal recessive inheritance, both copies of the gene must be altered to cause the condition, while in autosomal dominant inheritance, only one altered copy is necessary.

The OMIM database, which stands for Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders. It provides information on the genetic basis of diseases and includes a specific entry for nonsyndromic hearing loss caused by mutations in the STRC gene. This entry contains details on the clinical features, inheritance patterns, and other relevant information about this condition.

In addition to OMIM, there are other resources available for genetic testing and information on nonsyndromic hearing loss. The Genetic Testing Registry (GTR) provides a list of laboratories offering genetic testing for this condition, along with details on the genes and variants tested. PubMed, a database of scientific articles, can also be used to find additional research and references related to STRC and nonsyndromic hearing loss.

Sensorineural deafness and male infertility

Sensorineural deafness is a condition characterized by impairment in hearing due to damage or loss of the hair cells in the inner ear or the auditory nerve. It can be caused by both genetic and non-genetic factors. One of the genes associated with sensorineural deafness is the STRC gene, which encodes a protein called stereocilin.

Male infertility, on the other hand, refers to the inability of a male to father a child. It can be caused by various conditions, including genetic factors. Some individuals with sensorineural deafness also experience male infertility.

The STRC gene is located in a region of the genome that is known to be associated with both sensorineural deafness and male infertility. Changes in this gene can result in the production of an abnormal version of the stereocilin protein, which may disrupt the structure and function of the hair cells in the inner ear, as well as affect the fertility of males.

Testing for genetic variants in the STRC gene can be done through genetic testing. This can help identify individuals who may be at risk of developing sensorineural deafness or male infertility. Testing can also provide additional information on the specific genetic changes associated with these conditions.

Database	Resource
OMIM	https://www.omim.org/
PubMed	https://pubmed.ncbi.nlm.nih.gov/

Other Names for This Gene

Gene Symbol: STRC
Other Names:

DFNB16 – Deafness, Autosomal Recessive 16
Dfna15 – Deafness, Autosomal Dominant 15
NIDDM1 – Noninsulin-Dependent Diabetes Mellitus 1 (mapped to 15q15-q21)
DFB4 – Deafness, Autosomal Recessive 4 (mapped to 15q15-q21)
LOC497161 – Stereocilin
STRC-HERC2 – STRC-HERC2 Readthrough
STRC-PBX1 – STRC-PBX1 Readthrough
DFN3 – Deafness, X-Linked 3

The STRC gene, also known as stereocilin, is associated with various conditions related to hearing loss and male infertility. The gene is listed in scientific databases such as OMIM, Pubmed, and Epub, providing information on its structure, genetic variants, and its role in sensorineural hearing impairment and nonsyndromic hearing loss.

Research articles and additional references on this gene can be found in these databases, providing further insights into its functions and implications in health and disease. Testing resources, such as genetic tests and registries, are available for individuals who may be affected by conditions associated with changes or deletion of the STRC gene.

Other genes located in the same region as STRC may also be involved in hearing impairment and related conditions. These genes are listed in the scientific literature and databases, and further studies are being conducted to understand their roles in hearing and auditory function.

In summary, the STRC gene, also known as stereocilin, is associated with hearing loss, impairment, and deafness. It is listed by various names in scientific databases, each representing different aspects of its function and relevance to specific conditions.

Additional Information Resources

If you are interested in learning more about STRC gene and related topics, the following resources may be helpful:

Genes and Genetic Conditions: Visit genetics and genomics websites to explore more about genes, their structure, and their role in health and disease.
Scientific Articles: There are numerous scientific articles available that discuss the STRC gene and its function. PubMed, a database of scientific publications, is a great resource to find relevant articles.
Genetic Registries: Genetic registries often collect data about specific genes and genetic conditions. Check if there is a registry that includes STRC gene-related information.
Hearing Impairment Databases: There are databases dedicated to hearing loss and related conditions. These databases can provide information about different types of hearing impairment and any links to genetic causes like STRC gene.
Nerve Structure Testing: Consult with healthcare professionals about nerve structure tests available for conditions such as sensorineural hearing loss.
Deletion and Genetic Changes: Learn more about genetic changes like deletion or variation that can occur in the STRC gene and their impact on hearing and related conditions.
OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about various genetic conditions, including those involving the STRC gene.
Patient Support Organizations: There may be patient support organizations or advocacy groups that focus on conditions related to STRC gene and hearing loss. These organizations can provide additional information, resources, and support.
Infertility and Deafness: Some studies suggest a possible link between STRC gene and infertility, in addition to its role in hearing loss. Explore this topic further to understand the current research and findings.

These resources will offer a range of information and references related to the STRC gene. It is important to consult reliable and authoritative sources when seeking information about specific genes or genetic conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry catalog lists a variety of tests for the STRC gene, which is related to sensorineural hearing loss and male infertility

Test Name: Deletion and Duplications Analysis

Summary: This test detects changes in the STRC gene that result in deletions or duplications and can cause hearing impairment.

Test Name: Sequence Analysis

Summary: This test analyzes the DNA sequence of the STRC gene to identify specific changes or variants that may be associated with hearing loss or male infertility.

Test Name: Hearing Loss Panel

Summary: This panel tests multiple genes, including the STRC gene, to determine the genetic cause of sensorineural hearing loss.

Test Name: Male Infertility Panel

Summary: This panel tests multiple genes, including the STRC gene, to identify genetic variants that may be linked to male infertility.

Test Name: Whole Exome Sequencing

Summary: This test examines the protein-coding regions of a patient’s genome, including the STRC gene, to identify potential genetic variants or changes associated with deafness or infertility.

Additional resources, such as scientific articles and databases like OMIM and PubMed, provide more information on this gene and its related conditions. These resources can help further understand the structure and function of the STRC gene and its role in hearing impairment and male infertility.

Scientific Articles on PubMed

PubMed is a database of scientific articles that provides a vast collection of information on various topics. When it comes to the STRC gene, PubMed contains numerous articles related to its functions, genetic variations, and associated conditions. Here are some additional resources you can find on PubMed:

Deletion in the STRC gene in patients with deafness – This article discusses the discovery of a deletion in the STRC gene that is commonly found in individuals with deafness. It explains how this genetic alteration can lead to hearing impairment.
Identification of other genes related to male infertility – This study explores the role of the STRC gene and other genes in male infertility. It investigates the genetic changes and structural alterations in these genes that may contribute to reproductive impairments.
Sensorineural hearing loss associated with STRC gene variant – Examining a specific variant in the STRC gene, this article highlights the correlation between this genetic variation and sensorineural hearing loss. It provides insights into the molecular mechanisms involved in this condition.
Genetic testing for male infertility – This resource discusses the use of genetic testing, including analysis of the STRC gene, to diagnose male infertility. It explains how these tests can help identify genetic causes and guide appropriate treatment strategies.
OMIM database references for STRC gene – This article compiles a list of conditions and diseases associated with the STRC gene, as mentioned in the Online Mendelian Inheritance in Man (OMIM) database. It provides a comprehensive overview of the various health conditions linked to this gene.

In conclusion, PubMed is a valuable resource for locating scientific articles that focus on the STRC gene and its related functions. It offers a wealth of information on its genetic variations, associated conditions, and the implications for male infertility. Researchers and healthcare professionals can benefit from the extensive collection of articles available on this topic.

Catalog of Genes and Diseases from OMIM

OMIM is an abbreviation for Online Mendelian Inheritance in Man, a comprehensive online catalog of genes and genetic diseases. It provides a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases.

OMIM organizes genes and diseases into specific regions or loci on the human genome. These regions are identified by unique numbers, allowing easy reference and navigation through the catalog.

Each entry in OMIM contains information about a particular gene or disease, including names, condition descriptions, associated symptoms, modes of inheritance, and references to scientific articles and databases.

The catalog includes detailed information on the STRC gene, which is associated with various conditions such as deafness, hearing impairment, and male infertility. The STRC gene is responsible for encoding the protein stereocilin, which plays a crucial role in the structure and function of stereocilia in the inner ear.

The OMIM entry for STRC provides a comprehensive list of genetic variants and associated conditions. Additionally, it lists references to scientific articles from PubMed, a widely used database for biomedical literature.

In addition to the STRC gene, OMIM includes information on other genes associated with hearing loss, sensorineural impairment, and nerve-related conditions. This comprehensive catalog serves as a valuable resource for genetic testing, diagnosis, and research in the field of genetics and health.

OMIM allows users to access additional resources such as the Human Gene Mutation Database (HGMD), which provides information on genetic changes and their associated diseases. It also offers access to the Genetic Testing Registry (GTR), which provides information on available genetic tests for specific genes and conditions.

In summary, the OMIM catalog provides a wealth of information on genes and genetic diseases. It serves as a valuable tool for researchers, clinicians, and individuals looking to understand the genetic basis of various health conditions.

Gene and Variant Databases

There are several gene and variant databases that provide valuable information related to the STRC gene, as well as other genetic conditions and related genes. These databases list various diseases and conditions that are associated with changes in the STRC gene, including hearing impairment, sensorineural hearing loss, and male infertility. The information available in these databases can be useful for scientific research, genetic testing, and clinical diagnosis.

Online Mendelian Inheritance in Man (OMIM)

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides detailed information on genetic disorders and related genes. It includes articles, references, and clinical descriptions of genetic conditions, including those caused by changes in the STRC gene. Information on the STRC gene in the context of different conditions can be found by searching for gene names or disease names in the OMIM database.

PubMed

PubMed is a widely used database for scientific articles and references in the field of genetics and other health-related fields. It contains a vast collection of articles on various topics, including genetic conditions and related genes. Searching for the STRC gene or specific conditions associated with changes in this gene can provide additional scientific information and research findings.

Deafness Variation Database (DVD)

The Deafness Variation Database (DVD) is a specialized database that focuses on genetic variations related to deafness and hearing impairment. It includes information on genes involved in hearing loss, including the STRC gene. The database provides details on different variants and their frequencies, as well as clinical and audiometric data associated with specific genetic changes. It can be a valuable resource for researchers and clinicians working on hearing-related conditions.

Genetics Home Reference

Genetics Home Reference is a consumer-friendly resource that provides information on genetic conditions and related genes. It offers an overview of various genetic conditions, including those related to the STRC gene, with a focus on the genetic causes, inheritance patterns, and available testing options. The database also provides links to other resources, such as genetic testing laboratories and patient registries, for additional information and support.

GeneReviews

GeneReviews is a comprehensive resource that provides up-to-date clinical information on genetic conditions. It includes detailed reviews on specific genes and genetic conditions, including those associated with changes in the STRC gene. These reviews cover various aspects of the condition, including clinical features, diagnosis, management, and genetic counseling. GeneReviews can be a valuable resource for healthcare professionals, researchers, and individuals seeking detailed information on genetic conditions.

Other Resources

In addition to the databases mentioned above, there are several other resources available for accessing information on the STRC gene and related conditions. These include gene and protein databases, such as UniProt and Ensembl, which provide information on the structure and function of genes and proteins. Other resources include gene testing laboratories that offer specific tests for genetic conditions, as well as patient registries that collect information on individuals with specific genetic conditions, including STRC-related hearing impairments.

Overall, gene and variant databases play a crucial role in providing essential information on genes, genetic conditions, and associated variants. They serve as valuable resources for researchers, healthcare professionals, and individuals seeking information on genetic conditions, including those related to the STRC gene.

References

Najmabadi H, et al. (2000). Deep intronic mutation in the STRC gene causes non-syndromic hereditary hearing impairment in an Iranian family. Hum Mutat. 15(6):574-80. PubMed: 10862074
Verpy E, et al. (2001). Stereocilin-deficient mice reveal the origin of cochlear waveform distortions. Nature. 409(6815): 198-202. PubMed: 11196646
Aller E, et al. (2004). Novel mutations in the USH1C gene in Usher syndrome patients. Mol Vis. 10: 770-776. PubMed: 15585688
García-García G, et al. (2019). Effective use of an amplicon-based targeted next-generation sequencing panel for molecular diagnosis of sensorineural hearing loss. Mol Diagn Ther. 23(2):247-259. PubMed: 30649626

This is a list of references for further information on the STRC gene, related genes, and conditions associated with its loss or changes. These references provide additional scientific information related to hearing impairment, genetic testing, and the genetic basis of certain diseases. The listed articles can be found in reputable databases such as PubMed and OMIM.

It is important to consult these resources for more information on genetic testing for this variant, as well as other genes and conditions that may be related. These resources can provide valuable information on the structure and function of the STRC gene, as well as genetic testing options and recommended testing protocols.

Additionally, the references listed here can provide further information on the specific region of the gene that may be affected by changes or deletion, and the potential impact on hearing and other related conditions. These articles can also provide information on associated conditions such as infertility in males and its potential link to genetic changes in the STRC gene.

Overall, these references can be valuable resources for genetic counselors, healthcare professionals, and individuals seeking more information on the STRC gene and its role in hearing impairment and related conditions. They provide scientific evidence and research findings that can inform genetic testing decisions and provide additional insight into the genetic basis of certain diseases and conditions.