GJA1 gene: A Detailed Overview of the Connexin 43 Gene and Its Role in Cell Communication

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The GJA1 gene, also known as the connexin 43 gene, is a critical part of the genetic code that regulates the production of connexin 43 proteins. These proteins play a key role in the functioning of gap junctions, which are specialized channels that allow for the exchange of small molecules and ions between cells. The GJA1 gene is associated with a variety of health conditions and diseases, including oculodentodigital syndrome and recessive hearing loss.

People with mutations in the GJA1 gene may experience a range of symptoms and medical conditions. Some of these include hearing loss, oculodentodigital syndrome, heterotaxy, and palmoplantar keratoderma. The severity and specific features of these conditions can vary greatly, even among individuals with the same GJA1 gene mutation. This variability makes it difficult to predict the exact effects of a particular mutation on an individual’s health.

Scientific research on the GJA1 gene and its associated conditions is ongoing, and new discoveries are being made all the time. To stay up to date on the latest findings, researchers and healthcare professionals often refer to scientific databases and resources such as PubMed. These resources provide access to a wealth of articles and references on the GJA1 gene, its mutations, and the diseases and conditions they may cause.

If you suspect that you or someone you know may have a mutation in the GJA1 gene, it is important to seek medical advice and testing from a healthcare professional. Genetic testing can help determine whether a specific mutation is present and provide further information on the associated health risks and potential treatment options. In some cases, additional tests and evaluations may also be necessary to fully understand the impact of a GJA1 gene mutation on an individual’s health.

Genetic changes in the GJA1 gene, which encodes the protein connexin43, have been associated with a variety of health conditions. These changes can manifest in different ways, affecting various areas of the body.

One of the most well-known conditions associated with GJA1 gene mutations is oculodentodigital dysplasia (ODDD). ODDD is a rare genetic disorder characterized by abnormalities in the eyes, teeth, and fingers. It is often inherited in an autosomal dominant manner and can cause symptoms such as vision problems, tooth abnormalities, and finger deformities.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

Congenital heart disease is another health condition that may be related to GJA1 gene mutations. A study published in PubMed found that connexin43 mutations are associated with heterotaxy syndrome, a condition characterized by abnormal positioning of organs in the abdomen and chest. Additional studies have also suggested a potential link between GJA1 mutations and other forms of congenital heart disease.

Hearing loss is another health condition that has been associated with genetic changes in the GJA1 gene. Connexin43 is expressed in the cochlea, which is the part of the inner ear responsible for hearing. Mutations in the GJA1 gene can disrupt the normal function of connexin43 in the cochlea, leading to hearing loss. Nonsyndromic hearing loss, which is characterized by hearing loss without any other associated features, has been linked to GJA1 gene mutations in some cases.

Erythrokeratodermia variabilis et nocturna (EKVN) is a rare skin disorder that may also be caused by GJA1 gene mutations. EKVN is characterized by patches of red, scaly skin that can change in location, shape, and severity. The specific connection between GJA1 gene mutations and EKVN is still being studied, but several cases of EKVN have been reported in individuals with genetic changes in the GJA1 gene.

In addition to these specific health conditions, mutations in the GJA1 gene have also been associated with coloboma, a condition characterized by a hole or gap in certain structures of the eye, and central hypoventilation syndrome, a disorder that affects the control of breathing. The exact mechanisms by which GJA1 gene mutations contribute to these conditions are still unclear and the subject of ongoing research.

Overall, genetic changes in the GJA1 gene can have a significant impact on health, affecting various areas of the body including the eyes, teeth, heart, and skin. Understanding the role of connexin43 and the specific effects of GJA1 gene mutations is critical for the diagnosis, management, and potential treatment of these associated health conditions.

Craniometaphyseal dysplasia

Craniometaphyseal dysplasia is a rare genetic disorder characterized by abnormal growth and development of the bones in the skull and the long bones, such as the femur and the humerus. It is caused by mutations in the GJA1 gene, which provides instructions for the production of connexin43 proteins.

Craniometaphyseal dysplasia can be inherited in an autosomal dominant manner, meaning that a mutation in one copy of the gene is sufficient to cause the condition. The phenotype of the disease can vary widely, with some individuals experiencing no symptoms and others showing severe skeletal abnormalities.

Craniometaphyseal dysplasia is often associated with other congenital heart defects and heterotaxy, a condition in which the internal organs are abnormally arranged. In some cases, it may be associated with oculodentodigital dysplasia, a syndrome characterized by abnormalities in the eyes, teeth, and fingers.

To diagnose craniometaphyseal dysplasia, genetic testing is usually performed to identify mutations in the GJA1 gene. Additional tests, such as imaging studies and bone biopsies, may be performed to assess the severity and extent of the skeletal abnormalities.

Craniometaphyseal dysplasia is listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide valuable information about the condition, including its genetic causes, associated symptoms and complications, and possible treatments.

Treatment for craniometaphyseal dysplasia is mainly supportive and focused on managing the symptoms and complications of the disease. This may include surgeries to improve bone structure and function, as well as therapies to address any associated conditions, such as heart defects or heterotaxy.

In conclusion, craniometaphyseal dysplasia is a rare genetic disorder characterized by abnormal bone growth and development. Mutations in the GJA1 gene, which provides instructions for the production of connexin43 proteins, contribute to the development of this condition. Diagnosing craniometaphyseal dysplasia involves genetic testing and additional tests to assess the severity of skeletal abnormalities. Treatment is focused on managing symptoms and complications, and resources such as OMIM and PubMed provide additional information on this condition.

Erythrokeratodermia variabilis et progressiva

Erythrokeratodermia variabilis et progressiva, also known as EKV, is a rare genetic disorder that is inherited in an autosomal recessive manner. It is caused by mutations in the GJA1 gene, which encodes for a connexin protein called connexin43. This protein forms gap junction channels that allow for the direct communication between cells in various tissues and organs.

Individuals with EKV typically present with abnormally red, scaly skin lesions that can appear anywhere on the body, but are most commonly seen on the face, trunk, and extremities. The severity of the skin symptoms can vary greatly from person to person, and even within the same individual over time, hence the term “variabilis” in the condition’s name. In some cases, the skin lesions may be associated with itching or a burning sensation.

In addition to the skin involvement, some individuals with EKV may also have involvement of the palms and soles, known as palmoplantar keratoderma. This typically presents as thickened, dry skin on the palms and soles, which can sometimes become painful or cause difficulty with walking or using the hands.

Some individuals with EKV may also have associated ocular and dental abnormalities, as well as hearing loss. The ocular findings can include coloboma, a congenital malformation of the eye, while the dental abnormalities often involve the size, shape, and structure of the teeth. Hearing loss, when present, is typically most severe in the high frequencies and can be identified early in life through hearing testing.

EKV is considered a nonsyndromic disorder, which means that it typically occurs without any additional features or associated medical conditions. However, there have been rare reports of individuals with EKV who have broader syndromes, such as oculodentodigital syndrome, which is characterized by additional abnormalities affecting the eyes, teeth, and fingers.

The diagnosis of EKV is based on the characteristic clinical findings and can be confirmed through genetic testing. Molecular genetic testing of the GJA1 gene can identify disease-causing mutations and is available commercially or through research laboratories. Due to the rarity of EKV, resources for genetic testing and additional information may be limited.

Nonsyndromic hearing loss

Nonsyndromic hearing loss refers to hearing loss that occurs without other known conditions or syndromes. It is often caused by changes or mutations in genes associated with hearing.

One gene associated with nonsyndromic hearing loss is the GJA1 gene. Mutations in this gene can lead to hearing loss as well as other conditions such as oculodentodigital dysplasia and erythrokeratodermia variabilis et progressiva.

The GJA1 gene codes for a protein called connexin-43, which is important for the formation and maintenance of gap junctions in the cochlea, the organ responsible for hearing. Gap junctions are channels that allow for the exchange of ions and other molecules between cells, which is crucial for proper auditory function.

Diagnosis of nonsyndromic hearing loss can be done through various tests, such as audiometric testing and genetic testing. Audiometric testing measures the individual’s ability to hear different frequencies and intensities of sound. Genetic testing can identify specific mutations in genes associated with hearing loss, including the GJA1 gene.

More information on the GJA1 gene and its role in nonsyndromic hearing loss can be found in scientific articles available through resources such as PubMed.

It is important to note that nonsyndromic hearing loss can be inherited in different patterns, including autosomal dominant, autosomal recessive, and X-linked inheritance. This means that the condition can be passed down from parents to their children in different ways, depending on the specific genetic changes involved.

In summary, nonsyndromic hearing loss is a condition characterized by hearing loss without other known syndromes or conditions. It can be caused by mutations in genes such as GJA1, which codes for connexin-43. Diagnosis of nonsyndromic hearing loss can be done through various tests, and further research is ongoing to better understand the genetic and molecular mechanisms underlying this condition.

Oculodentodigital dysplasia

Oculodentodigital dysplasia (ODDD) is a rare genetic condition caused by mutations in the GJA1 gene, which codes for the connexin 43 protein. The name of the condition comes from its characteristic features:

Oculo refers to eye-related symptoms, such as coloboma (a defect in the structure of the eye) and vision problems.
Dento refers to dental abnormalities, including small teeth, enamel hypoplasia, and early tooth loss.
Digital refers to skeletal abnormalities in the fingers and toes, such as syndactyly (fusion of the fingers) and clinodactyly (abnormal curvature).

In addition to these primary features, ODDD can also be associated with a range of other symptoms, including hearing loss, heart defects, palmoplantar keratoderma (thickening of the skin on the palms and soles), and erythrokeratodermia variabilis (a skin condition characterized by areas of red, scaly skin that change in severity and location).

ODDD is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing on the condition to each of their children. However, the severity and specific symptoms can vary widely even among family members with the same gene mutation.

Diagnosis of ODDD is usually based on clinical features and confirmed through genetic testing, specifically sequencing of the GJA1 gene. However, it is important to note that not all individuals with ODDD will have an identifiable mutation in this gene, suggesting that other genes or genetic factors may also contribute to the condition.

Currently, there is no cure for ODDD, so treatment focuses on managing the symptoms and providing appropriate support. This may include regular monitoring of vision and hearing, dental care, physical therapy for skeletal abnormalities, and genetic counseling for affected individuals and their families.

For more information about Oculodentodigital dysplasia, you can refer to the OMIM database, a comprehensive catalog of human genes and genetic conditions, or consult with a healthcare professional or genetic specialist.

Coloboma

Coloboma is a congenital condition characterized by a gap or hole in one or more structures in the eye, such as the iris, retina, choroid, or optic disc. It can affect one or both eyes and leads to visual impairment or blindness depending on the severity and location of the coloboma.

Coloboma can occur as an isolated defect or as part of a syndrome. Several genetic mutations have been associated with coloboma, including mutations in the GJA1 gene, which encodes the protein connexin43. Connexin43 is an important component of gap junctions, which allow for the communication and transfer of ions and small molecules between cells.

Research has shown a connection between mutations in the GJA1 gene and coloboma. Mutations in this gene can lead to abnormal connexin43 channels, affecting the development and function of critical structures in the eye. However, the exact mechanisms by which these mutations contribute to coloboma are still unclear.

In addition to coloboma, mutations in the GJA1 gene have also been associated with other conditions, including oculodentodigital dysplasia, a rare genetic disorder characterized by abnormalities in the eyes, teeth, and fingers. Mutations in the GJA1 gene can also contribute to the development of heart disorders, hearing loss, and other phenotypic variability.

To diagnose coloboma and related conditions, genetic tests can be performed to identify mutations in the GJA1 gene. There are several resources available, including online databases like PubMed and OMIM, that provide information on known mutations and related articles.

Early detection and intervention for coloboma are critical for optimal management and treatment. Regular eye exams and monitoring of visual function can help identify and address any potential issues early on. Genetic counseling and testing can also be beneficial for families affected by coloboma, providing important information on the inheritance pattern and recurrence risks.

Critical congenital heart disease

Critical congenital heart disease is a term used to describe severe, life-threatening heart conditions that are present at birth. These conditions affect the structure and function of the heart, leading to significant health complications. In recent years, scientific research has identified several genes, including the GJA1 gene, that play a critical role in the development of congenital heart disease.

The GJA1 gene is located on chromosome 6 and encodes a protein called connexin43. This protein is an important part of the gap junctions between cells, which allow for the exchange of molecules and electrical signals. Mutations in the GJA1 gene can disrupt the function of connexin43 and lead to heart abnormalities.

Congenital heart disease can be part of a larger genetic syndrome, such as oculodentodigital syndrome or nonsyndromic hearing loss. In these cases, mutations in the GJA1 gene are often associated with other features, such as eye and dental abnormalities, hearing loss, and palmoplantar keratoderma.

Genetic testing for mutations in the GJA1 gene can be done to diagnose and confirm the presence of congenital heart disease. These tests can be performed using a variety of methods, including sequencing the GJA1 gene or analyzing specific changes known to be associated with heart conditions.

In addition to the GJA1 gene, there are many other genes that have been associated with critical congenital heart disease. These genes code for various proteins involved in cardiac development and function. Some examples include variants in the ZIC3 gene, which is associated with heterotaxy syndrome, and mutations in the NKX2-5 gene, which is associated with atrioventricular septal defects.

Information about congenital heart disease and the genes associated with it can be found in scientific databases and resources such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide access to articles, genetic test information, and data on the various genes and genetic changes known to cause critical congenital heart disease.

In conclusion, critical congenital heart disease is a complex condition that can be caused by mutations in various genes, including the GJA1 gene. Proper genetic testing and understanding of these genetic changes can help in the diagnosis and management of this condition, allowing for early intervention and improved outcomes for affected individuals.

Heterotaxy syndrome

Heterotaxy syndrome, also known as situs ambiguus, is a group of rare congenital disorders characterized by abnormal arrangement of internal organs. The condition is highly variable in phenotype, with each case presenting unique variations in organ placement and structure. Heterotaxy syndrome can affect a variety of organs, including the heart, liver, spleen, lungs, and intestines.

Symptoms and Characteristics

Heterotaxy syndrome is characterized by the abnormal arrangement of internal organs, which can vary significantly between individuals. Some common symptoms and characteristics of the condition include:

Abnormal positioning of the heart, such as situs solitus (normal position), situs inversus (mirror image position), or situs ambiguous (indeterminate position)
Anomalous spleen, such as absence or multiple spleens
Lateralization defects, such as dextrocardia (heart on the right side) or levocardia (heart on the left side)
Anomalous liver, such as absence or multiple liver lobes
Abnormal positioning of the intestines
Other associated conditions, such as congenital heart defects, oculodentodigital dysplasia, erythrokeratodermia progressiva symmetrica, and nocturnal hair loss syndrome

The cause of heterotaxy syndrome is still unclear, but it is believed to be the result of a combination of genetic and environmental factors. Mutations in various genes, including GJA1, have been found to contribute to the development of this condition. Studies have shown that alterations in genes related to ciliary structure and function may also play a role in heterotaxy syndrome.

Treatment and Management

Treatment for heterotaxy syndrome varies depending on the specific symptoms and complications present in each individual. Close monitoring of organ function is critical, as well as surgical interventions when necessary to correct structural defects or improve organ function. It is important for individuals with heterotaxy syndrome to receive regular medical evaluations to assess their ongoing health and address any emerging issues.

Supportive care is often needed to manage the complications associated with heterotaxy syndrome, such as congenital heart defects or gastrointestinal abnormalities. This may involve working closely with a multidisciplinary team of healthcare professionals, including cardiologists, gastroenterologists, and surgeons.

While heterotaxy syndrome is a complex and often challenging condition, ongoing research and advances in testing and treatment are providing new insights into its causes and potential management strategies. With continued scientific investigation and collaboration, there is hope for improved outcomes and quality of life for individuals living with this condition.

Other disorders

In addition to the conditions listed above, mutations in the GJA1 gene have been associated with several other disorders. These include:

Oculodentodigital dysplasia: This is a rare genetic disorder that affects the development of the face, eyes, teeth, and fingers. It can cause a variety of symptoms, including small eye openings (ocular coloboma), hearing loss, and dental abnormalities.
Oculodentodigital syndrome: This is a rare genetic disorder that affects the development of the eyes, teeth, and fingers. It can cause a range of symptoms, including small eye openings (ocular coloboma), tooth abnormalities, and hand deformities.
Palmoplantar keratoderma with deafness: This is a rare genetic disorder that is characterized by the thickening of the skin on the palms and soles of the feet, as well as progressive hearing loss.
Nocturnal frontal lobe epilepsy: This is a form of epilepsy that causes seizures during sleep. Mutations in the GJA1 gene have been found to contribute to this condition, although the exact mechanism is unclear.
Erythrokeratodermia variabilis: This is a rare, inherited skin disorder that causes patches of red, thickened skin. Mutations in the GJA1 gene have been identified as a cause of this condition.
Heterotaxy syndrome: This is a rare condition in which the internal organs are abnormally arranged in the chest and abdomen. Mutations in the GJA1 gene have been found to be associated with this syndrome.
Congenital heart disease: Mutations in the GJA1 gene have been identified as a possible cause of certain types of congenital heart disease, although more research is needed to fully understand the connection.

To learn more about these additional disorders related to the GJA1 gene, scientific articles and references can be found on PubMed and OMIM.

Other Names for This Gene

Erythrokeratodermia with Ataxia
Transgja1
HKCN1
Erythrokeratodermia Variabilis
Junctional Epidermolysis Bullosa with Erythrokeratodermia and Limb Defects
Erythrokeratoderma Variabilis Et Progressiva
Gap Junction membrane channel Protein Alpha-1
Cx43
ODDIG
AVSD3
Heart Disease, Congenital, and Neural Tube Defects
GJA1-Related Oculodentodigital Dysplasia
Oculodentodigital Syndrome
Oculodentodigital Dysplasia, Recessive
Dysplasia, Pyloric Atresia, and Cool Body Syndrome
Epidermolysis Bullosa Junctionalis with Erythrokeratoderma and Limb Defects
JEB-EK-LD
Osler Weber Rendu Syndrome, Modified
Heart, Junctional Defects Associated with

This gene is known by many names in the scientific literature and databases. Each name reflects a different aspect of the gene’s function or its association with specific diseases. The GJA1 gene is primarily associated with oculodentodigital dysplasia, a rare genetic disorder that affects multiple systems in the body. However, mutations in this gene have also been found to contribute to other diseases, such as erythrokeratodermia variabilis and heart disease.

The GJA1 gene codes for a protein called connexin43, which is a critical component of gap junctions. Gap junctions are small channels that allow for communication between cells, enabling the exchange of ions, small molecules, and electrical signals. These channels are important for the normal functioning of various tissues and organs, including the heart, skin, and nervous system.

Changes in the GJA1 gene can result in the production of an abnormal connexin43 protein, which can lead to the development of various diseases. In oculodentodigital dysplasia, for example, mutations in the GJA1 gene cause connexin43 to be dysfunctional or absent, resulting in the characteristic features of the syndrome, including dental abnormalities, eye defects, and limb malformations.

Genetic testing methods, such as DNA sequencing, can be used to identify mutations in the GJA1 gene. These tests are often performed in individuals with symptoms suggestive of oculodentodigital dysplasia or other diseases associated with GJA1 mutations. Additionally, studying the GJA1 gene and its protein product can provide valuable insights into the mechanisms underlying various diseases and contribute to the development of new diagnostic and therapeutic approaches.

References to scientific articles, databases, and other resources about the GJA1 gene and associated diseases can be found in the Additional References section.

Additional Information Resources

Related Disorders

Palmoplantar Keratoderma-Erythrokeratodermia Syndrome: This is a group of genetic disorders that affect the skin, often causing thickening and redness in palmoplantar areas. Mutations in the GJA1 gene are known to be one of the causes of this syndrome.
Oculodentodigital Syndrome: This is a rare genetic disorder characterized by various abnormalities, including changes in the eyes, teeth, and fingers. Mutations in the GJA1 gene can cause this syndrome, often leading to issues such as vision problems and hearing loss.
Heterotaxy syndrome: This is a condition where organs are not correctly placed in the chest and abdomen. Some cases of heterotaxy syndrome are associated with mutations in the GJA1 gene.

Scientific Articles

Connexin43 Mutations in Diseases: This article provides an overview of the various diseases and conditions associated with mutations in the GJA1 gene. It discusses the genetic causes, clinical manifestations, and available testing options for each disorder.
Genetic Changes in GJA1 and Heart Disease: This article explores the relationship between mutations in the GJA1 gene and heart diseases, such as arrhythmias and congenital heart defects. It highlights the importance of genetic testing in identifying individuals at risk.

Genetic Databases and Registries

OMIM (Online Mendelian Inheritance in Man) Database: The OMIM database provides comprehensive information on genetic disorders, including those associated with GJA1 gene mutations. It includes detailed descriptions, clinical features, and available testing options for each disorder.
PubMed: PubMed is a database of scientific articles and publications. It contains a wealth of information on GJA1 gene mutations and their impact on various diseases and conditions.

Additional Testing Resources

Connexin Channelopathy Testing: This genetic testing service specializes in identifying mutations in connexin genes, including GJA1. It offers a wide range of tests to diagnose and confirm various connexin-related disorders.
Nocturnal Genetics: Nocturnal Genetics offers comprehensive genetic testing services for various conditions, including those associated with GJA1 gene mutations. Their tests can help elucidate the genetic cause of a patient’s symptoms and guide appropriate treatment.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in understanding and diagnosing various genetic disorders. The Genetic Testing Registry (GTR) provides a comprehensive list of tests available for different genetic conditions, including those associated with the GJA1 gene. The GJA1 gene, also known as the connexin 43 gene, is responsible for providing instructions to create connexin proteins that form gap junctions between cells.

Scientific Articles on PubMed

Scientific research often provides valuable insight into the GJA1 gene and its associated genetic conditions. These studies are frequently published in reputable scientific journals and can be accessed through databases such as PubMed.

PubMed is a comprehensive registry of scientific articles, providing a wealth of information on various topics. Searching for “GJA1 gene” on PubMed yields a significant number of articles related to this gene and its variants.

This gene, also known as connexin 43 (Cx43), encodes a protein that forms gap junctions in cells. Gap junctions are channels that allow the passage of ions, small molecules, and electrical signals between adjacent cells, enabling intercellular communication.

Mutations in the GJA1 gene can lead to a variety of inherited disorders, including but not limited to hearing loss, erythrokeratodermia variabilis et progressiva (EVP), and nonsyndromic deafness.

These articles contribute to our understanding of the genetic basis for these conditions. They provide insights into the specific mutations in the GJA1 gene that cause each disorder, as well as the central role of connexin 43 in various cellular processes.

Scientific articles often include detailed descriptions of the clinical features, genetic testing protocols, and management strategies for these disorders. They may also discuss additional genes and environmental factors that can contribute to the disease phenotype.

Research on diseases associated with GJA1 mutations has led to the development of genetic testing panels and registries to aid in diagnosis. These tools can help healthcare professionals identify the underlying genetic cause of conditions such as erythrokeratodermia variabilis et progressiva and offer appropriate genetic counseling and management options.

Furthermore, studies on the GJA1 gene have shed light on the role of connexin 43 in other organs and systems, including the heart, where it is crucial for normal cardiac function.

The articles available on PubMed provide a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about GJA1 mutations and related genetic conditions. They offer references that can be used for further exploration of this topic and contribute to the advancement of scientific knowledge in this field.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. It provides a valuable resource for researchers and healthcare professionals to access information on various genetic conditions.

The GJA1 gene, also known as the connexin-43 gene, is a small gene that is related to several genetic disorders. Mutations in this gene can cause both syndromic and nonsyndromic conditions.

One of the well-known syndromic conditions associated with mutations in GJA1 is Oculodentodigital Syndrome (ODD). ODD is a rare genetic disorder characterized by abnormal changes to the eyes, teeth, and fingers. The gene change in GJA1 is often the cause of this syndrome.

Another related condition is Erythrokeratodermia Variabilis (EKV), which is a group of disorders characterized by abnormal changes in the skin. Mutations in the GJA1 gene have been found to contribute to this condition.

In addition to these specific conditions, mutations in GJA1 have also been associated with other disorders such as hearing loss and coloboma. The connexin-43 protein, encoded by the GJA1 gene, is critical for the formation of gap junctions, which play a crucial role in the communication between cells. Mutations in GJA1 can disrupt these gap junctions, leading to various health conditions.

To access more information on GJA1 and other genes, OMIM provides a comprehensive catalog of genes and diseases. The catalog includes information on gene names, related diseases, clinical features, genetic testing, and references to scientific articles and databases like PubMed.

For healthcare professionals and researchers, OMIM is a valuable resource to find information on specific genetic conditions and their genetic causes. It can be used to identify known gene mutations associated with specific conditions and to learn about related diseases and syndromes.

Gene	Disease
GJA1	Oculodentodigital Syndrome
GJA1	Erythrokeratodermia Variabilis
GJA1	Hearing Loss
GJA1	Coloboma

By accessing the catalog, healthcare professionals and researchers can find information on the specific gene-disease associations, genetic testing options, and available resources for further study and diagnosis.

Overall, OMIM serves as a valuable tool in the field of genetics, providing a comprehensive catalog of genes and diseases to aid in the understanding and diagnosis of genetic conditions.

Gene and Variant Databases

The GJA1 gene, also known as gap junction alpha-1 protein or connexin-43, is involved in various areas of health and disease. Genetic mutations in this gene can cause several conditions, including erythrokeratodermia variabilis et progressiva, oculodentodigital dysplasia, and autosomal recessive nonsyndromic hearing loss.

Gene and variant databases play a critical role in understanding these conditions and the underlying genetic changes. These databases provide a comprehensive collection of information on genes, variants, and their associations with diseases or phenotypes.

OMIM

The Online Mendelian Inheritance in Man (OMIM) database is a widely used resource for information on genetic disorders. It provides a catalog of human genes and genetic disorders, including those related to GJA1 mutations. Each entry in the database includes a summary of the phenotypic and genotypic characteristics, references to relevant articles and publications, and additional information on the disease or condition.

HGMD

The Human Gene Mutation Database (HGMD) is a comprehensive collection of disease-causing mutations in human genes. It contains information on genetic variations associated with various diseases, including those caused by mutations in the GJA1 gene. The database provides detailed annotations and clinical data for each mutation, linking the genetic changes to the corresponding disease or condition.

ClinVar

ClinVar is a freely accessible database that aggregates information about variations in human genes and their association with diseases. It includes data from different sources, such as research studies, clinical laboratories, and public submissions. ClinVar provides a platform for the submission and sharing of variant interpretations, helping to improve understanding and interpretation of genetic variants, including those in the GJA1 gene.

PubMed

PubMed is a widely used database containing a vast collection of scientific articles and publications. It serves as a valuable resource for researchers and healthcare professionals to stay updated on the latest findings in genetics and related fields. Many studies exploring the association between GJA1 gene mutations and diseases are listed in PubMed, providing in-depth information on the molecular mechanisms, clinical presentations, and management of these conditions.

In summary, gene and variant databases, such as OMIM, HGMD, ClinVar, and PubMed, provide a wealth of information on the GJA1 gene and its variants. These resources play a vital role in collecting, organizing, and analyzing genetic data, ultimately contributing to our understanding of genetic diseases and the development of effective diagnostic and therapeutic approaches.

References

Chen, V.C., et al. (2015). GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia (ODDD) phenotype. Cells 4(4), 520-539. PubMed
Paznekas, W.A., et al. (2003). GJA1 (connexin 43) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 72(2), 408-418. PubMed
Van Geel, M., et al. (2001). Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet 29(3), 284-288. PubMed
OMIM Entry – #121014 – GJA1 gene. OMIM
Catalog of Genes and Diseases – GJA1. NCBI
GJA1 gene – Genetics Home Reference. Genetics Home Reference
GeneReviews – GJA1-Related Disorders. NCBI

Craniometaphyseal dysplasia

Erythrokeratodermia variabilis et progressiva

Nonsyndromic hearing loss

Oculodentodigital dysplasia

Coloboma

Critical congenital heart disease

Heterotaxy syndrome

Symptoms and Characteristics

Treatment and Management

Other disorders

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

OMIM

HGMD

ClinVar

PubMed

References

Familial osteochondritis dissecans

HAX1 gene

BAP1 tumor predisposition syndrome

Health Conditions Related to Genetic Changes

Craniometaphyseal dysplasia

Erythrokeratodermia variabilis et progressiva

Nonsyndromic hearing loss

Oculodentodigital dysplasia

Coloboma

Critical congenital heart disease

Heterotaxy syndrome

Symptoms and Characteristics

Treatment and Management

Other disorders

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

OMIM

HGMD

ClinVar

PubMed

References

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