DCX gene

The DCX gene is a genetic result that has been linked to several neurological conditions. It stands for doublecortin and is responsible for a protein that plays a role in the migration of neurons during brain development.

Changes in the DCX gene can lead to various neurological impairing conditions, including lissencephaly and subcortical band heterotopia. These conditions affect the normal development of the brain and can cause intellectual disabilities and other neurological problems.

The DCX gene has been studied extensively, and its sequence and structure are well-documented. The OMIM database lists numerous references and articles related to this gene, providing valuable scientific information for researchers and healthcare professionals.

In addition to the OMIM database, there are other resources and databases available for testing and research on the DCX gene. These include PubMed for scientific articles, GenBank for molecular sequence data, and Genetic Testing Registry for genetic testing information.

Overall, the DCX gene is a key player in the development of the brain and is associated with several neurological conditions. Understanding the genetic changes that occur in this gene can provide crucial insights into the diseases and disorders it is related to, and help develop potential treatments and interventions for affected individuals.

Health Conditions Related to Genetic Changes

Genetic changes can have significant impacts on an individual’s health. These changes can be identified through genetic tests, which analyze the sequence of genes and proteins in an individual’s cells. By studying these genetic changes, scientists can better understand the underlying causes of various health conditions.

One health condition related to genetic changes is called DCX gene-related lissencephaly. Lissencephaly is a neurological condition that affects the development of the brain. Individuals with this condition have a smooth brain surface instead of the normal folded appearance. Lissencephaly can result in significant neurological impairments, affecting an individual’s ability to learn, move, and communicate.

Another condition related to genetic changes is called DCX gene-related subcortical heterotopia. Subcortical heterotopia is a condition in which neurons fail to migrate to their proper location in the brain during development. Instead, they accumulate in clusters or bands beneath the brain’s surface. This can also lead to neurological impairments and other associated health problems.

To learn more about these health conditions and the genetic changes that cause them, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions and their associated genes. PubMed and the Catalog of Genes and Diseases (genetests.org) are scientific databases that provide articles and references related to specific conditions and genes.

In addition to these databases, there are other resources available to individuals seeking more information on genetic testing and related health conditions. The Genetic and Rare Diseases Information Center (GARD) provides information on isolated genetic conditions and connects individuals with registries and support groups. The National Human Genome Research Institute (NHGRI) provides information and resources on genetic testing for both males and females.

Overall, genetic changes can have significant impacts on an individual’s health, resulting in conditions such as lissencephaly and subcortical heterotopia. Testing for these changes can provide important information for diagnosis and treatment. Through resources like OMIM, PubMed, and genetests.org, individuals can access additional scientific information and references to better understand these conditions and their genetic causes.

Isolated lissencephaly sequence

Isolated lissencephaly sequence (ILS) is a condition characterized by the smooth appearance of the brain (lissencephaly) and a range of neurological abnormalities. It is a genetic disorder that affects the development and migration of neurons in the brain.

ILS is not related to any other genetic conditions and is often caused by changes or variants in the DCX gene. The DCX gene provides instructions for making a protein that is important for the normal development of neurons.

There are several scientific articles related to ILS listed on PubMed, a database of scientific publications. These articles provide information on the impairing effects of the DCX gene and its variants on brain development and migration in individuals with ILS. Additional information on ILS can also be found on the OMIM database, which catalogs genetic diseases and their associated genes.

Individuals with ILS may have additional conditions such as subcortical band heterotopia, which are disorganized clusters of neurons in the brain. Male individuals are more commonly affected by ILS compared to females.

Testing for ILS typically involves genetic testing to identify changes or variants in the DCX gene. Other tests, such as brain imaging and neurological tests, may be done to evaluate the severity of the condition and determine the best course of treatment.

For more information on ILS, the DCX gene, and related resources, additional references and articles can be found in scientific journals and on various health and neurological registries.

References:

  1. Dobyns WB. Genetics of lissencephaly and subcortical band heterotopia. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, editors. Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis. 2nd edition. New York: Oxford University Press; 2008.
  2. Desai J, Berkovic SF. Genetics of genetic epilepsies. Epilepsia. 2012;53 Suppl 4:11-20.
  3. Parrini E, Conti V, Dobyns WB. Isolated lissencephaly sequence and doublecortin. Curr Opin Genet Dev. 2016;39:155-161.

Note: This article is for informational purposes only and should not be used as a substitute for professional medical advice. Please consult a healthcare professional for diagnosis and treatment of any medical conditions.

Subcortical band heterotopia

Subcortical band heterotopia, also known as “double cortex syndrome”, is a condition characterized by an additional band of neurons located in the subcortical region of the brain. This condition is caused by genetic changes in the DCX gene, which is responsible for the normal migration of neurons during brain development.

Genetic tests can be performed to identify variants in the DCX gene. These tests can be obtained through scientific articles, genetic databases, or through genetic testing companies. The Human Gene Mutation Database (HGMD) and Online Mendelian Inheritance in Man (OMIM) are two important resources for obtaining information about genetic variants and their associated conditions.

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In individuals with subcortical band heterotopia, the migration of neurons from the subventricular zone to the cortical plate is impaired. This results in a second band of neurons forming below the normal cortical layer. The exact mechanism of how DCX gene changes lead to subcortical band heterotopia is still being investigated.

Subcortical band heterotopia can be isolated, meaning it occurs without any other associated health conditions, or it can be associated with other diseases such as lissencephaly. Lissencephaly is a condition characterized by a smooth brain surface instead of the normal folded appearance.

The symptoms and severity of subcortical band heterotopia can vary widely among affected individuals. Some individuals may experience seizures, intellectual disability, and developmental delays, while others may have no noticeable symptoms. Diagnostic tests such as brain imaging and genetic testing can help confirm the presence of subcortical band heterotopia.

Currently, there is no specific treatment for subcortical band heterotopia. Management of the condition focuses on addressing individual symptoms and providing support for affected individuals and their families.

Key points about subcortical band heterotopia:
Condition Subcortical band heterotopia
Genetic Cause Changes in the DCX gene
Associated Health Conditions Isolated subcortical band heterotopia or associated with lissencephaly
Symptoms Can vary widely, including seizures, intellectual disability, and developmental delays
Diagnosis Brain imaging, genetic testing
Treatment Management of symptoms, supportive care

Further research and understanding of the molecular changes in the DCX gene and their impact on neuronal migration may lead to improved diagnosis and treatment options for individuals with subcortical band heterotopia.

Other Names for This Gene

The DCX gene is also known by several other names, including:

  • Doublecortin gene
  • DC
  • EIEE6
  • DCAM
  • LISX
  • LIS2
  • DCX doublecortin
  • Doublecortin-like kinase 1
  • DCK1

These additional names reflect the various research and studies conducted on the gene and its related proteins, as well as its involvement in different conditions and diseases.

Additional Information Resources

In addition to the information provided above, there are several other resources available for further exploration of the DCX gene and related conditions:

  • The DCX Gene: The official gene symbol for DCX is “doublecortin” and it is also referred to by other sequence names, such as “DC” and “X-linked lissencephaly/ subcortical band heterotopia susceptibility gene” (XLIS).
  • References: A comprehensive list of references on the DCX gene and related conditions can be found in the publications listed in the PubMed database.
  • Related Conditions: The DCX gene is associated with various neurological conditions such as isolated lissencephaly, subcortical band heterotopia, and other diseases impairing neuronal migration. Information and resources specific to these conditions can be found in separate articles and databases.
  • Genetic Testing: Genetic testing for variants in the DCX gene can be performed to determine if an individual has a genetic condition associated with this gene.
  • Health Registry: There are health registries and databases available for individuals with conditions related to the DCX gene. These registries collect and store information about the condition, its genetic basis, and the individuals affected to facilitate research and provide support.
  • Molecular Genetics of DCX: The OMIM database provides detailed information about the molecular genetics of the DCX gene, including gene structure, mutations, and functional aspects.

These resources, along with the information mentioned in this article, can serve as valuable references for researchers, healthcare professionals, and individuals interested in learning more about the DCX gene and associated conditions.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in diagnosing various diseases and conditions. The genetic testing registry provides a comprehensive list of tests available for different genetic conditions. These tests help identify specific variants in the genes that may be associated with the diseases or conditions.

One of the genes listed in the registry is the DCX gene. Variants in this gene have been found to cause lissencephaly, a neurological condition characterized by smooth brain surface and impaired neuronal migration. Individuals with variations in the DCX gene may also present with subcortical band heterotopia, a condition where neurons fail to reach their proper location in the brain.

The genetic testing registry provides information on molecular tests that can detect changes in the DCX gene and other related genes. These tests utilize sequencing techniques to analyze the DNA sequence and identify genetic variants associated with lissencephaly and subcortical band heterotopia. The registry also includes additional resources such as databases, articles from PubMed, and references for further scientific information on these conditions.

Some of the tests listed in the registry include:

  • Sequence analysis of the DCX gene for males with lissencephaly
  • Mutation analysis of the DCX gene for individuals with subcortical band heterotopia
  • Genetic panel testing for lissencephaly and other related conditions

These tests are designed to identify specific genetic variants in the DCX gene and provide valuable information for diagnosing and managing these conditions. The results of these tests can help healthcare professionals make informed decisions regarding the treatment and care of individuals with lissencephaly and subcortical band heterotopia.

In summary, the Genetic Testing Registry offers a catalog of tests that can detect genetic variants associated with lissencephaly, subcortical band heterotopia, and other related conditions. These tests provide crucial information for understanding the genetic basis of these conditions and developing personalized healthcare plans.

Scientific Articles on PubMed

PubMed is a comprehensive database that contains a vast collection of scientific articles and research papers. It provides valuable information on various topics, including the DCX gene and related conditions. Here are some articles available on PubMed:

  • DCX gene sequence changes – This article explores the genetic changes in the DCX gene and their impact on brain development. It provides insights into the molecular basis of conditions such as lissencephaly and heterotopia.
  • Migration of DCX gene neurons – This study investigates the migration patterns of neurons carrying the DCX gene and their role in normal brain development. It sheds light on the mechanisms that regulate cellular migration in the subcortical band.
  • Impairing conditions related to the DCX gene – This research examines the neurological impairments associated with mutations in the DCX gene. It discusses the clinical manifestations, diagnostic tests, and available treatment options for these conditions.
  • Genetic testing resources for the DCX gene – This article provides an overview of the genetic testing resources available for analyzing the DCX gene. It highlights the importance of genetic testing in diagnosing and managing related disorders.
  • Additional genes and proteins linked to heterotopia – This study explores other genes and proteins that interact with the DCX gene and contribute to the development of heterotopia. It identifies potential targets for future therapeutic interventions.
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These articles can be found on PubMed, a widely used platform for accessing scientific literature. PubMed also provides references to other related articles, enabling researchers to explore the topic in greater depth. For more information on the DCX gene and its implications in various diseases and conditions, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog. It contains a wealth of information on genes, genetic variants, and associated health conditions.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a catalog of genes and diseases. It serves as a comprehensive resource for information on genetic conditions in humans.

OMIM provides a registry of genes and their associated diseases. This catalog includes information on gene names, sequence changes, variant proteins, and impaired molecular function. It also lists additional resources such as scientific articles, PubMed references, and related databases.

OMIM is particularly useful for researchers and healthcare professionals who work with genetic disorders. It provides detailed information on genes and diseases, which can aid in diagnosis and genetic testing.

One example of a condition listed in the OMIM catalog is lissencephaly. Lissencephaly is a genetic condition characterized by the absence or improper formation of the folds in the surface of the brain. The genes associated with this condition are involved in neuronal migration during brain development.

Another example is subcortical band heterotopia. This condition is characterized by a band of neurons located below the outer surface of the brain. The genes related to subcortical band heterotopia impair normal neuronal migration and result in the formation of this abnormal band of cells.

OMIM provides a wealth of information, including genetic testing resources for these and other genetic conditions. It is a valuable tool for understanding the molecular basis of diseases and their genetic changes.

In summary, OMIM is a catalog of genes and diseases that provides information on molecular tests, genetic changes, and associated conditions. It serves as a valuable resource for researchers, healthcare professionals, and anyone interested in understanding the genetic basis of human health.

Gene and Variant Databases

For the study of the DCX gene and its variants associated with lissencephaly, there are several databases and resources available. These databases contain information on various genes, variants, and their associated conditions.

One of the main databases used for gene and variant information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genetic diseases and associated genes. It includes information on the DCX gene and its variants, as well as relevant references and clinical descriptions. OMIM also includes links to other resources for further investigation.

Another database that provides information on the DCX gene and its variants is the NCBI Gene database. This database provides detailed information on genes, including protein products, mRNA sequences, genomic location, and related scientific articles. It also includes a list of conditions associated with the gene.

In addition to these general gene databases, there are specific databases focused on the DCX gene and related conditions. One example is the DCX Gene Mutation Database, which catalogues known DCX gene mutations and their associated phenotypes. This database is a valuable resource for researchers and clinicians studying lissencephaly and other conditions caused by DCX gene mutations.

The Subcortical Band Heterotopia (SBH) Gene Database is another specialized resource focused on the DCX gene and its role in SBH. This database provides information on specific variants of the DCX gene that result in subcortical band heterotopia, a condition characterized by malformation of neurons during brain development. It includes information on the functional consequences of different variants and their association with clinical features.

For genetic testing, there are also databases available that provide information on available tests and laboratories. One example is the Genetic Testing Registry (GTR), which provides a centralized location for information on genetic tests and their associated laboratories. It includes information on available tests for genes associated with lissencephaly, such as the DCX gene, and provides links to additional resources for further investigation.

In summary, gene and variant databases provide valuable resources for studying the DCX gene and its associated conditions. These databases contain information on genes, variants, associated conditions, and references for further investigation. Through the use of these databases, researchers and clinicians can access important molecular and clinical information to further understand the role of the DCX gene in normal and impaired neuronal migration.

References

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