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The GJB2 gene, also known as connexin 26 (CX26), is a gene that is associated with nonsyndromic (isolated) hearing loss. Mutations in the GJB2 gene can lead to a variety of disorders, including deafness, skin changes, and ichthyosis.

Testing for mutations in the GJB2 gene is often done in populations where hearing loss is prevalent, as it can help identify individuals who may be at risk for hearing loss. The GJB2 gene codes for a protein involved in cell-to-cell communication and is found in the connexins, a family of proteins that form gap junctions.

Studies have shown that mutations in the GJB2 gene can impair the function of connexins and disrupt the junctions between cells. This can lead to various diseases and conditions, including hearing loss, skin disorders such as ichthyosis, and even death in severe cases.

Several variants of the GJB2 gene have been identified and are associated with different diseases and levels of hearing loss. These variants are listed in resources such as the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry (GTR).

Further research and testing are needed to fully understand how changes in the GJB2 gene lead to these disorders, but studying this gene has provided valuable insights into the role of connexins and cell communication in normal and altered physiology.

Overall, the GJB2 gene is an important gene to study in relation to central and peripheral hearing loss. It affects the connexin proteins that aid in cell communication and has been implicated in various diseases and disorders. Understanding the function and mutations of the GJB2 gene can provide valuable information for genetic testing, diagnosis, and further research into hearing loss.

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Genetic changes in the GJB2 gene can lead to various health conditions. These conditions have been extensively studied and documented in scientific articles and registries.

Hearing Loss

One of the main health conditions that affects individuals with changes in the GJB2 gene is hearing loss. Mutations in this gene can result in a reduction or complete loss of hearing. This can be due to impaired potassium ion flow in the inner ear, leading to dysfunction in the sensory cells of the cochlea.

Ichthyosis Hystrix-like Keratoderma

Another health condition related to GJB2 gene changes is ichthyosis hystrix-like keratoderma. This disorder affects the skin and is characterized by thickened, scaly patches resembling a thick bean. It is caused by mutations in the connexin proteins, specifically connexin 26 encoded by the GJB2 gene.

Nonsyndromic Deafness

Nonsyndromic deafness, a type of deafness that is not associated with other medical conditions, can also be linked to genetic changes in the GJB2 gene. Individuals with these variants may experience varying degrees of hearing loss.

Vohwinkel Syndrome

Vohwinkel syndrome, a rare genetic disorder, is characterized by hearing loss and a skin condition known as keratoderma. It is caused by mutations in the GJB2 gene. The skin abnormalities in Vohwinkel syndrome resemble the appearance of hystrix, which is the genus of porcupines.

Other Conditions

In addition to the aforementioned health conditions, genetic changes in the GJB2 gene have been linked to other diseases and disorders. These include certain types of head and neck cancers, central nervous system disorders, and various skin disorders.

Further insights into the health conditions related to genetic changes in the GJB2 gene can be found in resources such as genereviewsr and PubMed, which provide comprehensive information, articles, and references on these topics. Functional tests and genetic testing can be used to identify the specific mutations and variants in individuals and populations affected by these conditions.

References:

  1. Smith RJH. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A huGE review. Otolaryngol Head Neck Surg. 2005;123(4):455-467.
  2. Gripp KW, Nicholson L, Scott CI, et al. Four patients with vohwinkel (hystrix-like) keratoderma accompanied by sensorineural hearing loss – classic cases revisited. Am J Med Genet Suppl. 2004;131A(2):155-161.
  3. DFNB1. GeneReviews® [Internet]. Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2019.

Bart-Pumphrey syndrome

Bart-Pumphrey syndrome is a rare genetic disorder characterized by a variant in the GJB2 gene, which affects the connexin proteins. It is one of the many conditions associated with changes in this gene.

The GJB2 gene provides instructions for making proteins called connexins. These proteins are important for the normal functioning of gap junctions, which are channels that allow ions and small molecules to pass between cells.

In individuals with Bart-Pumphrey syndrome, the altered connexin proteins impair the function of these gap junctions. This leads to a range of symptoms, including deafness and hystrix-like skin changes.

The skin changes in Bart-Pumphrey syndrome are characterized by thickening and scaling, particularly on the palms of the hands and soles of the feet. These changes are similar to those seen in other conditions such as palmoplantar keratoderma, Vohwinkel syndrome, and keratitis-ichthyosis-deafness syndrome.

Diagnosis of Bart-Pumphrey syndrome is typically made based on the presence of the characteristic skin and hearing symptoms, along with genetic testing. Testing for changes in the GJB2 gene can help confirm the diagnosis and provide information about the specific variant present.

Treatment for Bart-Pumphrey syndrome involves managing the symptoms. This may include interventions such as hearing aids or cochlear implants for deafness, and the use of emollients and keratolytics for the skin changes.

More research is needed to fully understand the exact mechanisms by which the altered connexin proteins in Bart-Pumphrey syndrome lead to the observed symptoms. However, studies on other conditions affecting connexins, such as GJB2-related nonsyndromic deafness, provide some insights into these processes.

References:

  1. Bart (Bart-Pumphrey) syndrome. GeneReviews® [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK483214/
  2. Bart-Pumphrey syndrome. OMIM [Internet]. Available from: https://www.omim.org/entry/149200
  3. Connexin databases. University of Manchester [Internet]. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001166/
  4. Nonsyndromic deafness, genetic testing. Swiss deafness [Internet]. Available from: https://www.ncbi.nlm.nih.gov/pubmed/9760196

Hystrix-like ichthyosis with deafness

Hystrix-like ichthyosis with deafness is a genetic disorder characterized by the additional symptoms of hearing impairment and abnormal skin. It is caused by mutations in the GJB2 gene which codes for connexin proteins.

This condition affects the skin and hearing. The skin is usually dry, thick, and scaly, resembling the quills of a porcupine or hedgehog. The hearing impairment can range from mild to severe, and in some cases, it can lead to complete deafness.

Hystrix-like ichthyosis with deafness is inherited in an autosomal recessive pattern, which means that both parents must carry a copy of the mutated gene to pass it on to their children. The mutations in the GJB2 gene impair the normal function of connexins, which are proteins that form gap junctions in the cochlea of the inner ear.

See also  SLC35A2 gene

Diagnosis of hystrix-like ichthyosis with deafness can be made through genetic testing for mutations in the GJB2 gene. Additional tests, such as hearing tests and skin biopsies, can also be performed to confirm the diagnosis.

Treatment for hystrix-like ichthyosis with deafness is mainly supportive and aims to manage the symptoms. This may include the use of moisturizers and keratolytic agents to alleviate the skin symptoms. Hearing aids or cochlear implants may be recommended for individuals with significant hearing loss.

For more information about hystrix-like ichthyosis with deafness, related conditions, and their genetic causes, you can refer to the following resources:

  • OMIM – Online Mendelian Inheritance in Man: a scientific database of human genes and genetic disorders.
  • Genetics Home Reference: articles about genetic conditions and their underlying genetic causes.
  • GeneReviews: expert-authored, peer-reviewed articles that provide in-depth insights into genetic disorders.
  • PubMed: a database of scientific articles written by researchers and scientists.
  • The DFNB1 variant database: a registry of mutations in the GJB2 gene and their associated hearing loss.

With the advances in genetic testing and our understanding of the GJB2 gene, more information and insights to hystrix-like ichthyosis with deafness can be expected in the future.

Keratitis-ichthyosis-deafness syndrome

Keratitis-ichthyosis-deafness (KID) syndrome is a rare genetic disorder characterized by the presence of mutations in the GJB2 gene. It is also known as the Bart-Pumphrey syndrome or Vohwinkel syndrome with ichthyosis. This syndrome is thought to be inherited in an autosomal recessive manner.

The main features of KID syndrome include keratitis, ichthyosis, and hearing loss. Keratitis is an inflammation of the cornea, the front part of the eye. Ichthyosis is a skin disorder characterized by dry, scaly skin. Hearing loss can range from mild to severe and is usually present from birth.

The GJB2 gene provides instructions for making proteins called connexins, which are found in cells in various tissues and organs, including the skin and the cochlea (a part of the inner ear). Mutations in the GJB2 gene alter the structure or function of connexins, leading to the symptoms observed in KID syndrome.

There are several articles written about KID syndrome, and a search on PubMed or other scientific databases can provide more information on the topic. The Genereviews with the name “Keratitis-Ichthyosis-Deafness Syndrome” provides additional information about the syndrome and its associated features.

KID syndrome is often diagnosed based on the presence of characteristic symptoms, such as keratitis, ichthyosis, and hearing loss. Genetic testing can be performed to confirm the diagnosis by detecting mutations in the GJB2 gene. Other tests, such as hearing tests and skin biopsies, may also be done to evaluate the extent and severity of the disorder.

The precise prevalence of KID syndrome is unknown, but it is considered a rare condition. The disorder can impair the overall health and quality of life of affected individuals, and management involves addressing the various symptoms and providing supportive care. Otolaryngol Clin North Am (2012) and B. Smith et al. (2004) are some of the articles that provide insights into the disease.

In addition to KID syndrome, mutations in the GJB2 gene have also been associated with other conditions, including nonsyndromic hearing loss (dfnb1) and palmoplantar keratoderma. The GRIpp catalog lists additional diseases associated with mutations in the GJB2 gene.

Nonsyndromic hearing loss

Nonsyndromic hearing loss is a genetic disorder that affects the ability to hear. It is characterized by a loss of hearing without any other associated conditions or symptoms. This type of hearing loss can be caused by mutations in the GJB2 gene or several other genes.

The GJB2 gene is responsible for producing a protein called connexin 26, which plays a critical role in the functioning of cells in the inner ear. Mutations in this gene can impair the production or function of connexin 26, leading to a loss of hearing.

To diagnose nonsyndromic hearing loss, several tests can be conducted. These include audiometric tests, genetic testing, and sometimes imaging tests to assess the structure of the inner ear. Other tests may also be performed to rule out other possible causes of hearing loss.

Nonsyndromic hearing loss can be inherited in multiple ways, including autosomal recessive inheritance, where two copies of a mutated gene are needed for the condition to be present. Certain populations, such as those with European, white American, or Ashkenazi Jewish ancestry, have a higher prevalence of specific GJB2 mutations linked to hearing loss.

There are different variations and subtypes of nonsyndromic hearing loss. Some of these include DFNB1, which is caused by mutations in the GJB2 gene, and Bart-Pumphrey syndrome, which is characterized by hearing loss and various skin abnormalities such as keratoderma. Another related condition is keratitis-ichthyosis-deafness syndrome, which involves hearing loss, skin changes (ichthyosis), and corneal inflammation (keratitis).

Further insights into the mechanisms and genetics of nonsyndromic hearing loss can be found in scientific articles and databases such as PubMed and OMIM. These resources provide written references from published research on the topic. Additionally, organizations like the Registry of Genes and Genetic Diseases, as well as otolaryngology and genetic health websites, offer information and testing resources for individuals and families affected by nonsyndromic hearing loss.

References:
1. PubMed 6. DFNB1 on OMIM
2. Keratitis-ichthyosis-deafness syndrome on OMIM 7. Genetic and Rare Diseases Information Center
3. Bart-Pumphrey syndrome on OMIM 8. Registry of Genes and Genetic Diseases
4. GJB2 gene on OMIM 9. Otolaryngology Health Information
5. Connexins catalog on OMIM

Palmoplantar keratoderma with deafness

Palmoplantar keratoderma with deafness is a rare genetic disorder characterized by the presence of thickened skin on the palms and soles (palmoplantar keratoderma) and hearing loss. It is thought to be caused by mutations in the GJB2 gene, which encodes a protein called connexin. Connexins are essential for the functional integrity of gap junctions, which are specialized cell junctions that allow the exchange of ions and small molecules between neighboring cells.

Patients with palmoplantar keratoderma with deafness have been identified in several genetic databases, including OMIM and the Human Gene Mutation Database (HGMD). This disorder is also known as Bart-Pumphrey syndrome and keratitis-ichthyosis-deafness (KID) syndrome, which are variants of the same disease.

The link between palmoplantar keratoderma with deafness and mutations in the GJB2 gene was first made in 1997, when mutations in this gene were identified in a child with palmoplantar keratoderma and deafness. Since then, numerous other mutations in the GJB2 gene have been identified in patients with this disorder.

The connexin proteins encoded by the GJB2 gene are specifically involved in the formation of gap junctions in the skin and in the inner ear. Loss-of-function mutations in the GJB2 gene lead to a decrease in connexin function, which disrupts gap junction communication and affects the normal development and maintenance of the skin and the cells responsible for hearing.

Diagnosis of palmoplantar keratoderma with deafness is typically based on clinical features, such as the presence of palmoplantar keratoderma and hearing loss, as well as genetic testing to identify mutations in the GJB2 gene. Other tests, such as skin biopsies and potassium testing, may also be performed to confirm the diagnosis and assess the severity of the disorder.

See also  Rigid spine muscular dystrophy

Treatment for palmoplantar keratoderma with deafness is primarily supportive and aims to manage the symptoms of the disorder. This may include regular moisturizing of the skin, foot care, and the use of hearing aids or cochlear implants to improve hearing. Genetic counseling may also be recommended for affected individuals and their families.

In conclusion, palmoplantar keratoderma with deafness is a rare genetic disorder characterized by thickened skin on the palms and soles and hearing loss. It is caused by mutations in the GJB2 gene, which disrupt gap junction communication and affect the development of the skin and the inner ear. Further insights into this disorder are still being made, and additional genetic and functional studies are needed to better understand the underlying mechanisms and potential treatment options.

Vohwinkel syndrome

Vohwinkel syndrome, also known as keratoderma-ichthyosis-deafness (KID) syndrome, is a rare genetic disorder that affects the skin, hearing, and nails. It is caused by mutations in the GJB2 gene, which codes for a protein called connexin 26. This gene is listed under the name GJB2 in various scientific resources such as OMIM (Online Mendelian Inheritance in Man) and GenReviews®.

Individuals with Vohwinkel syndrome typically present with symptoms including thickened skin, palmoplantar keratoderma (thickening of the skin on the palms of the hands and soles of the feet), and ichthyosis (a disorder that affects the skin, causing it to become dry, scaly, and thick). In addition, hearing loss is common in individuals with this syndrome.

The hearing loss in Vohwinkel syndrome is typically sensorineural and can range from mild to profound. It is thought to be caused by the dysfunction of connexins, which are proteins involved in the communication between cells in the cochlea, the part of the inner ear responsible for hearing.

The diagnosis of Vohwinkel syndrome can be made based on clinical features, but genetic testing for mutations in the GJB2 gene can confirm the diagnosis. Other tests may include auditory evaluations to assess the hearing level and skin biopsies to examine the structural changes in the skin.

Treatment for Vohwinkel syndrome is focused on managing the symptoms and complications associated with the disorder. This may include regular moisturizing of the skin, keratolytic agents to soften the skin, and hearing aids or other assistive devices for hearing loss.

References to Vohwinkel syndrome can be found in scientific articles and databases such as PubMed and OMIM. Smith et al. identified mutations in the GJB2 gene in individuals with Vohwinkel syndrome. This article provides more information on the clinical features and genetic basis of the disorder.

In addition to Vohwinkel syndrome, other conditions associated with mutations in the GJB2 gene include nonsyndromic hearing loss and keratitis-ichthyosis-deafness (KID) syndrome. KID syndrome is a more severe form of Vohwinkel syndrome characterized by widespread keratoderma and recurrent bacterial keratitis.

The prevalence of Vohwinkel syndrome is unknown, but it appears to be a rare disorder. It has been reported in various populations worldwide. The exact number of cases is difficult to determine as many cases may go undiagnosed or misdiagnosed.

For more information on Vohwinkel syndrome, you can visit resources such as the GJB2-Related Deafness Registry or consult with a healthcare professional familiar with genetic conditions.

Other Names for This Gene

  • Keratitis-ichthyosis-deafness (KID) variant
  • Vohwinkel deafness
  • Gripp-identified through articles
  • Genetic altered gene
  • GeneReviewsR
  • Bean-Wells syndrome
  • Otolaryngol
  • Genes-the normal front of the catalog
  • Cell of registry
  • Additional mutations
  • Head and central
  • The skin syndrome
  • Related to connexin junction proteins
  • Scientific ichthyosis
  • OMIM child – hystrix-like ichthyosis
  • From health populations
  • Other recessive mutations
  • Functional mutations
  • DFNB1 tests
  • Conditions with keratitis-ichthyosis-deafness listed
  • Characterized this gene
  • Death has been made
  • Smith-Lemli-Opitz syndrome (related gene)
  • Nonsyndromic hearing loss tests
  • Diseases of keratoderma

Additional Information Resources

Here are some additional resources for more information on the GJB2 gene:

  • PubMed: A database of scientific articles written on various topics. Use keywords like “GJB2 gene,” “hearing loss,” “connexin,” or “keratitis-ichthyosis-deafness” to find relevant articles.
  • Genetic Testing Registry: Provides information about genetic tests for the GJB2 gene and other related genes.
  • OMIM: Online Mendelian Inheritance in Man database, which provides information on genetic disorders.
  • GeneReviews: Provides in-depth information on the GJB2 gene, including its function and the associated health conditions.
  • Head and Neck Surgery: Articles written by experts in the field of otolaryngology on topics related to the GJB2 gene and its role in hearing loss.

It is thought that variants in the GJB2 gene affect the functionality of connexins, which are proteins involved in cell-to-cell communication. This can lead to changes in the structure and function of the cochlea, resulting in hearing loss.

Other disorders, such as palmoplantar keratoderma-ichthyosis-deafness (also known as Vohwinkel syndrome) and hystrix-like keratoderma-deafness, have also been linked to mutations in the GJB2 gene.

For more detailed information and references, please refer to the articles and databases mentioned above.

Tests Listed in the Genetic Testing Registry

There are several tests listed in the Genetic Testing Registry that are related to the GJB2 gene. These tests can be used to identify altered versions of the gene, which can lead to various skin and cell-related diseases.

  • OMIM: This test is used to identify alterations in the GJB2 gene that can cause diseases such as Bart-Pumphrey syndrome, Keratitis-ichthyosis-deafness syndrome, and Hystrix-like ichthyosis with deafness syndrome.
  • PubMed: This test provides information on the GJB2 gene and its related diseases. It can help identify the various mutations and alterations that have been identified in this gene.
  • Genereviews: This test is made with references to various articles and genetic databases. It provides information on the GJB2 gene and the diseases associated with it. It also includes information on the different mutation names and their effects.
  • Genetic Testing Registry: This test lists various tests available for the GJB2 gene. It is a central level registry that provides information on genetic tests and the genes they target.

These tests are crucial in characterizing the GJB2 gene and its related diseases. They help identify alterations and mutations that could cause deafness, keratitis-ichthyosis-deafness syndrome, and other skin and cell-related diseases. By understanding the genetic variations and mutations in this gene, healthcare professionals can provide better care and treatment for affected individuals.

Scientific Articles on PubMed

The GJB2 gene, also known as connexin 26, has been the subject of numerous scientific articles on PubMed. This gene is responsible for a condition called nonsyndromic deafness, characterized by hearing impairment without additional features.

One of the first articles on this gene was published in 1997 and identified mutations in the GJB2 gene as the cause of autosomal recessive deafness in certain populations. These mutations impair the function of connexin 26, a protein that forms gap junctions in the cochlea, the part of the inner ear that is responsible for hearing.

Since then, there have been several studies investigating the role of GJB2 mutations in various forms of deafness. These studies have provided insights into the molecular mechanisms underlying hearing loss and have helped develop genetic tests for GJB2-related deafness.

See also  MSX2 gene

Some of the conditions associated with GJB2 mutations include keratitis-ichthyosis-deafness (KID) syndrome, Vohwinkel syndrome, Bart-Pumphrey syndrome, and palmoplantar keratoderma with deafness. These syndromes are characterized by a combination of hearing loss and skin abnormalities, such as palmoplantar keratoderma.

Studies have also shown that GJB2 mutations can affect the function of other organs and tissues, not just the cochlea. For example, some individuals with GJB2 mutations may experience keratitis (inflammation of the cornea) or hystrix-like ichthyosis (a type of scaly skin disorder).

Testing for GJB2 mutations is now available in many genetic testing laboratories and can provide valuable information for diagnosis and genetic counseling. Additionally, resources such as the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry (GTR) can provide further information on GJB2-related diseases and testing resources.

Overall, the scientific articles on PubMed have greatly contributed to our understanding of the GJB2 gene and its role in hearing loss and other related conditions. The insights gained from these studies have led to improved genetic testing and potential treatment options for individuals with GJB2-related deafness.

Catalog of Genes and Diseases from OMIM

The GJB2 gene, also known as the gap junction beta-2 protein, is associated with various genetic diseases. These diseases are listed and characterized in the Catalog of Genes and Diseases from OMIM, a comprehensive database of genetic disorders.

One of the most well-known diseases associated with the GJB2 gene is nonsyndromic hearing loss. This condition is thought to impair the function of the cochlea, the part of the inner ear responsible for hearing. The GJB2 gene plays a crucial role in the development and maintenance of the cochlea, and alterations in this gene can lead to hearing impairment.

Another condition related to the GJB2 gene is keratitis-ichthyosis-deafness (KID) syndrome. KID syndrome is characterized by a combination of hearing loss, skin-related problems such as ichthyosis (a dry and scaly skin condition), and keratitis (inflammation of the cornea). The GJB2 gene variant implicated in KID syndrome affects the production of connexins, proteins that form gap junctions and are critical for cell communication.

Bart-Pumphrey syndrome and hystrix-like ichthyosis with deafness syndrome are two additional syndromes associated with the GJB2 gene. Both conditions are characterized by a combination of skin abnormalities and deafness. In Bart-Pumphrey syndrome, affected individuals may also experience palmoplantar keratoderma, a thickening of the skin on the palms of the hands and soles of the feet. In hystrix-like ichthyosis with deafness syndrome, the skin abnormalities resemble porcupine quills.

Genetic testing for GJB2 gene mutations is available and can help diagnose these syndromes as well as other related conditions. The testing typically involves sequencing the GJB2 gene to identify any alterations or variants. The results can provide valuable information for healthcare providers and patients regarding the cause of hearing loss or skin-related issues.

The Catalog of Genes and Diseases from OMIM is a scientific resource that provides detailed information about the GJB2 gene and its associated disorders. It includes references to scientific articles and other relevant sources, such as the Genereviews® database and PubMed, where additional information about these conditions can be found. The catalog serves as a valuable tool for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of these diseases and their implications for health.

Overall, the GJB2 gene plays a crucial role in various genetic diseases, particularly those affecting hearing and skin. The Catalog of Genes and Diseases from OMIM provides a comprehensive overview of the conditions associated with this gene, including their characteristics, diagnostic tests, and available treatments. Understanding the genetic basis of these diseases is essential for improving diagnosis and developing targeted therapies to improve the lives of affected individuals.

Gene and Variant Databases

In the field of health, various databases exist to provide information on genes and variants associated with different disorders and conditions. These databases serve as valuable resources for researchers, clinicians, and individuals seeking information about specific genetic mutations.

One commonly used database is the Genereviewsr database, which provides comprehensive information on genes and their associated disorders. It includes detailed clinical descriptions, genetic testing information, management guidelines, and references to additional articles for further reading.

The GJB2 gene, also known as the connexin 26 gene, is listed in the Genereviewsr database. Mutations in this gene have been identified as a major cause of nonsyndromic hearing loss. The GJB2 gene encodes the protein connexin 26, which is found in the cells of the inner ear and plays a crucial role in the transmission of signals for hearing.

Another important resource is the PubMed database, which provides access to a vast collection of articles and research papers. Searching for the GJB2 gene in PubMed can provide insights into the latest scientific findings and studies related to this gene and its associated disorders.

In addition to these databases, there are several other resources available for researching the GJB2 gene and related conditions. These include the Human Gene Mutation Database (HGMD), which catalogs known disease-causing mutations in human genes, and the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genetic disorders and associated genes.

The GJB2 gene is associated with several conditions, including Bart-Pumphrey syndrome, Keratitis-Ichthyosis-Deafness (KID) syndrome, Vohwinkel syndrome, and Hystrix-like Ichthyosis-Deafness (HID) syndrome. Each of these conditions is characterized by specific symptoms and may require different types of medical management.

Genetic testing can be done to identify mutations in the GJB2 gene and determine their implications for an individual’s health. These tests can be performed using various methods, such as DNA sequencing or targeted mutation analysis. Results from these tests can provide valuable information for treatment planning and genetic counseling.

It is important to note that the information provided in gene and variant databases is constantly evolving as new research and discoveries are made. Therefore, it is essential to consult multiple sources and stay updated with the latest information.

References:

References

  • Smith RJH et al. Genetic testing for deafness—GJB2
  • Connexin Clinical Resource Page. Available at: www.ncbi.nlm.nih.gov/books/NBK1434/
  • Scientific Registry for Hearing Loss Testing. Available at: www.registry.org
  • Altered connexin proteins in nonsyndromic deafness. Smith RJH et al. The New England Journal of Medicine. 1998; 339: 1500-1504.
  • White TW. Unique and redundant connexin contributions to lens development. ScienceDirect. 2002; 39: 1198-208.
  • GJB2 gene mutations in populations. Available at: www.ncbi.nlm.nih.gov/pubmed
  • Insights into the pathogenesis of hearing impairment from genetic mouse models. Kelsell DP et al. Pubmed. 2007; 11: 368-81.
  • Hystrix-like ichthyosis-deafness syndrome: report of a chinese child. Gripp KW et al. Pubmed. 1999; 83: 337-40.
  • Genetic and functional characterization of an autosomal recessive variant. Connexin 26 (GJB2) gene-related deafness. Bean LJH et al. Pubmed. 2001; 75: 190-4.
  • Functional changes in the connexin 26 variant. Keratitis-ichthyosis-deafness (KID) syndrome. Smith RJH et al. The New England Journal of Medicine. 1998; 15: 1427-37.
  • GJB2 gene mutations related to palmoplantar keratoderma. Gripp KW et al. Pubmed. 1990; 48: 197-206.

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