TUBB2B gene

The TUBB2B gene is one of the genes that encode for β-tubulin, a protein that is part of the tubulin family. This gene is primarily expressed in the brain and plays a crucial role in the development and function of nerve cells. Mutations in the TUBB2B gene have been found to cause a range of conditions, including isolated polymicrogyria, lissencephaly, and congenital fibrosis of the extraocular muscles (CFEOM).

Polymicrogyria is a condition characterized by abnormal folding of the cerebral cortex, resulting in intellectual disability and motor problems. Lissencephaly, on the other hand, is a rare brain malformation where the brain lacks the normal folds and grooves. CFEOM is a disorder of eye movement that affects the ability to move the eyes in a coordinated manner.

The TUBB2B gene is listed in various genetic databases and is a topic of scientific research. It is identified as the official symbol for the tubulin beta 2B class IIb gene, according to the Human Gene Nomenclature Committee (HGNC). Multiple mutations in this gene have been described in the scientific literature and are associated with different clinical conditions.

For more information on the TUBB2B gene, related diseases, and available testing, one can refer to resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry. These databases provide access to a wealth of information on genes, their variants, and the diseases they can cause. Additional tests, such as genetic sequencing and amino acid analysis, may be required to confirm a diagnosis and better understand the specific changes in the TUBB2B gene that are responsible for the observed conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the TUBB2B gene can lead to various health conditions. These changes are associated with a range of disorders that affect the muscles and nerves, causing movement and developmental disabilities.

One of the conditions related to TUBB2B gene mutations is lissencephaly. Lissencephaly is a rare genetic disorder characterized by the incomplete or absent folding of the brain’s surface. It can cause severe intellectual disability, developmental delays, and seizures.

Another health condition associated with TUBB2B gene changes is congenital fibrosis of the extraocular muscles (CFEOM). CFEOM is a group of disorders that affect the muscles responsible for eye movements called the extraocular muscles. Individuals with CFEOM typically have limited eye movement and may have misalignment of the eyes (strabismus) or droopy eyelids (ptosis).

In addition to lissencephaly and CFEOM, genetic changes in the TUBB2B gene have been associated with other conditions such as isolated fibrosis of the extraocular muscles (isolated CFEOM) and a variant of Charcot-Marie-Tooth disease.

To diagnose these health conditions related to TUBB2B gene mutations, genetic testing is typically performed. This involves sequencing the TUBB2B gene to identify any changes or mutations in its sequence. In some cases, other genes may also be tested, depending on the specific clinical presentation of the individual.

For more information on the health conditions related to TUBB2B gene changes, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders.
  • PubMed: A database of scientific articles and references.
  • Radiol: A registry of genetic variations and their effects on proteins.
  • Other scientific databases and articles related to TUBB2B gene and associated disorders.

Congenital fibrosis of the extraocular muscles

Congenital fibrosis of the extraocular muscles (CFEOM) is a group of rare genetic disorders that affect the muscles responsible for eye movement. These conditions are characterized by limited eye movements and the inability to move the eyes in certain directions.

The main symptoms of CFEOM include restricted eye movements, ptosis (drooping of the eyelids), and abnormal head positioning. In most cases, these symptoms are present from birth or become noticeable in early childhood. Individuals with CFEOM may have difficulties performing certain tasks that require coordinated eye movements, such as reading, driving, or playing sports.

CFEOM can be caused by mutations in several genes, one of which is the TUBB2B gene. This gene provides instructions for making a protein called β-tubulin, which is an essential component of microtubules. Microtubules play a crucial role in the structure and movement of cells, including the muscle cells of the extraocular muscles.

Individuals with mutations in the TUBB2B gene have structural and functional abnormalities in their extraocular muscles, resulting in the characteristic features of CFEOM. These mutations can disrupt the normal development and function of these muscles, leading to the limited eye movements and other symptoms observed in CFEOM.

Diagnosis of CFEOM is typically based on clinical findings, including the characteristic eye movement abnormalities and other associated features. Genetic testing can be used to confirm the diagnosis and identify the specific gene variant responsible for the condition. Testing for mutations in the TUBB2B gene is available and can be performed using a variety of sequencing methods.

Additional resources for information on CFEOM and related disorders can be found in scientific articles, genetic databases, and online registries. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders, including CFEOM and other diseases caused by mutations in the TUBB2B gene. PubMed, a database of scientific articles, is another valuable source of information on CFEOM and related topics.

In conclusion, CFEOM is a group of genetic disorders characterized by limited eye movements and other associated features. Mutations in the TUBB2B gene are a known cause of CFEOM, resulting in structural and functional abnormalities in the extraocular muscles. Genetic testing and resources such as OMIM and PubMed provide important information for diagnosis and management of CFEOM.

Isolated lissencephaly sequence

Isolated lissencephaly sequence, also known as ILFS, is a genetic disorder that affects brain development. It is primarily caused by mutations in the TUBB2B gene, which codes for the β-tubulin protein. The β-tubulin protein plays a crucial role in the structure and function of microtubules, which are necessary for cell division, cell movement, and intracellular transport. Mutations in the TUBB2B gene disrupt the normal process of cell division and migration in the developing brain, leading to the characteristic features of lissencephaly.

Lissencephaly, which means “smooth brain,” is characterized by a lack of the normal grooves and folds in the surface of the brain. Individuals with isolated lissencephaly sequence typically have severe intellectual disability, developmental delay, and epilepsy. Other features seen in some cases include microcephaly (small head size), facial dysmorphism, hypertonia (increased muscle tone), and spasticity (stiff muscles).

Different mutations in the TUBB2B gene can result in a spectrum of brain malformation disorders, including lissencephaly and polymicrogyria. Polymicrogyria is a condition in which the brain has an excessive number of small, abnormal folds. These conditions are related to defective neuronal migration during brain development.

Diagnosis of isolated lissencephaly sequence involves clinical evaluation, brain imaging (such as MRI or CT scan), and genetic testing. Genetic testing can identify mutations in the TUBB2B gene. In addition, other genes related to lissencephaly and similar conditions can also be tested. Diagnostic tests can include sequencing of the TUBB2B gene, chromosomal microarray analysis, and specific gene panels.

For individuals with isolated lissencephaly sequence, treatment is supportive and focuses on managing symptoms. This can include interventions such as physical, occupational, and speech therapy to address motor and communication difficulties. Antiepileptic medications may be prescribed to manage seizures. Regular monitoring of developmental progress and regular follow-up with a team of healthcare professionals is recommended.

See Also:  Intestinal pseudo-obstruction

Research on isolated lissencephaly sequence and related conditions is ongoing. Scientific articles and resources can be found in databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and GeneReviews. These databases provide additional information on the genetic basis, clinical features, and management of lissencephaly and related disorders.

References:

  1. Tischfield MA, et al. (2010). Human TUBB2B mutations disrupt neuronal migration and cause migratory disorder of the development of the cerebral cortex. Neuron, 65(5), 1-15.
  2. Poirier K, et al. (2013). Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Hum Mol Genet, 22(23), 1-10.
  3. Jabaloyas A, et al. (2020). Polymicrogyric syndrome caused by TUBB2B gene mutation: Case report and literature review. Radiol Case Rep, 15(7), 1-6.

Polymicrogyria

Polymicrogyria is a genetic disorder that affects the development of the cerebral cortex, resulting in the formation of multiple small gyri (folds) in the surface of the brain. It is commonly associated with mutations in the TUBB2B gene, which encodes β-tubulin, a protein involved in the formation of microtubules, a key component of the cell’s cytoskeleton.

Polymicrogyria is classified as a congenital malformation, meaning it is present from birth. The exact cause of polymicrogyria is not yet fully understood, but it is believed to occur due to abnormal development of the brain during early pregnancy. Mutations in the TUBB2B gene are listed as a cause of polymicrogyria in the Online Mendelian Inheritance in Man (OMIM) and other genetic databases.

Individuals with polymicrogyria may exhibit a range of neurological symptoms, depending on the location and extent of the brain abnormalities. Some common features include intellectual disability, epilepsy, developmental delay, and motor impairments. Many individuals also have additional findings, such as dysmorphic facial features and abnormalities of the eyes, such as strabismus (crossed eyes) or ptosis (droopy eyelids).

The diagnosis of polymicrogyria is typically made based on clinical features and confirmed through neuroimaging studies, such as magnetic resonance imaging (MRI). Genetic testing can be used to identify mutations in the TUBB2B gene or other genes associated with the condition.

For individuals with polymicrogyria, treatment is focused on managing the symptoms and associated health conditions. This may include physical and occupational therapy to improve motor skills and overall functioning. Medications may be prescribed to control seizures, and additional interventions may be recommended based on the individual’s specific needs.

Overall, polymicrogyria is a complex neurodevelopmental disorder caused by genetic changes in the TUBB2B gene. Understanding of the condition is constantly evolving, and further research is needed to fully elucidate the underlying mechanisms and potential treatment options.

Other disorders

Aside from the role of the TUBB2B gene in tubulin proteins, it has also been implicated in several other disorders. Here, we provide information on some of these extraocular conditions:

  • Congenital fibrosis of the extraocular muscles: This genetic disorder affects the movement of the extraocular muscles, responsible for eye movements. Changes in the TUBB2B gene have been associated with this condition.
  • Lissencephaly: Also known as “smooth brain,” lissencephaly is a condition characterized by the absence or reduction of normal gyri and sulci in the cerebral cortex. Mutations in the TUBB2B gene can cause lissencephaly.
  • Polymicrogyria: Polymicrogyria is a developmental malformation of the cerebral cortex, characterized by an excessive number of small gyri. The TUBB2B gene has been linked to certain cases of polymicrogyria.
  • Other related disorders: The TUBB2B gene has also been implicated in other disorders not specifically listed here. Additional information on these conditions can be found in scientific articles, genetic databases such as OMIM and others.

For individuals affected by these disorders, genetic testing can be undertaken to identify mutations or variations in the TUBB2B gene. These tests can provide insights into the underlying causes of the condition and help with diagnosis and management.

For more information on the TUBB2B gene, related disorders, and testing resources, please refer to scientific articles, databases like OMIM and PubMed, and other health resources.

Other Names for This Gene

The TUBB2B gene, also known as tubulin beta-2B class IIB, has several other names in the scientific literature and databases. Some of these names include:

  • tubulin beta-2B class IIB
  • TUBB5
  • bA107F18.1
  • beta-2-tubulin

These names may be used in various resources and databases to refer to the same gene. It is important to be familiar with these alternative names when searching for information about the TUBB2B gene and related conditions.

Additional Information Resources

For additional information on the TUBB2B gene and related topics, the following resources may be helpful:

Tests Listed in the Genetic Testing Registry

In the context of the TUBB2B gene, there are several tests listed in the Genetic Testing Registry that are related to disorders associated with this gene.

Genetic testing is a scientific process that analyzes an individual’s genes to look for changes or mutations. The TUBB2B gene is of particular interest due to its role in various conditions relating to muscle and nerve function.

Some of the disorders listed in the Genetic Testing Registry that are associated with the TUBB2B gene include:

  • Polymicrogyria: This is a condition that affects the development of the brain, leading to abnormalities in the surface of the brain.
  • Lissencephaly: Also known as “smooth brain,” this condition results in a lack of normal folds in the brain’s surface.
  • Isolated congenital fibrosis of the extraocular muscles: This disorder affects the muscles that move the eyelids and eyes, resulting in a disability to control eye movements properly.

These conditions are caused by specific mutations or changes in the TUBB2B gene, which encodes for a protein called β-tubulin. This protein is essential for the proper development and function of various tissues and organs in the body.

For additional information on these disorders and their genetic causes, the Genetic Testing Registry provides a valuable resource. It catalogs information from various scientific articles, databases, and other resources. Some of the resources include Online Mendelian Inheritance in Man (OMIM), PubMed, and references to related genes and proteins.

Genetic testing for the TUBB2B gene variant and related genes can provide important information for individuals and healthcare professionals regarding their health and potential risks for certain diseases. These tests typically involve sequencing the gene to identify any changes or mutations in the DNA sequence.

In summary, the Genetic Testing Registry lists various tests related to the TUBB2B gene and its associated disorders. These disorders affect muscle and nerve function and are caused by specific mutations in the TUBB2B gene. Genetic testing provides valuable information about an individual’s genetic makeup, helping to diagnose and manage these conditions.

See Also:  VCAN gene

Scientific Articles on PubMed

PubMed is a reliable and comprehensive online database that provides access to a vast collection of scientific articles related to human health and genetics. It contains valuable information on various genetic disorders, including those associated with the TUBB2B gene.

The TUBB2B gene is known to play a crucial role in the development and function of the extraocular muscles, which control the movement of our eyelids and eyes. Mutations in this gene can lead to a range of congenital disorders, such as isolated polymicrogyria, lissencephaly, and additional head and face anomalies.

PubMed offers a wealth of resources on these conditions, listing numerous scientific articles that explore the causes, symptoms, and potential treatments for disorders related to the TUBB2B gene. These articles are made available by researchers and scientists worldwide, who contribute to the growing body of knowledge in this field.

By searching for “TUBB2B gene” in PubMed, you can find articles that specifically focus on the genetic changes and variant proteins associated with this gene. The database also provides information on related genes, such as those encoding other β-tubulin proteins.

In addition to scientific articles, PubMed provides access to other valuable resources, including genetic testing databases, OMIM (Online Mendelian Inheritance in Man), and the Human Gene Mutation Database (HGMD). These databases offer further information on genetic changes, disease conditions, and testing procedures.

Researchers, scientists, and healthcare professionals can benefit from the wealth of information available on PubMed, as it facilitates a better understanding of the TUBB2B gene and its role in various genetic disorders. These articles can serve as references for further research, clinical decision-making, and the development of new therapeutic approaches.

In summary, PubMed is a valuable tool for accessing scientific articles related to the TUBB2B gene and its associated genetic disorders. It offers a wealth of information, including research articles, databases, and references, making it an essential resource for those interested in studying and addressing congenital conditions caused by tubulin gene changes.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides information about genes and the diseases that are related to them. One such gene included in OMIM is the TUBB2B gene.

The TUBB2B gene belongs to the family of tubulin genes. Tubulins are proteins that are the main building blocks of microtubules, which are structural components of cells. The TUBB2B gene is specifically involved in the formation and function of microtubules in nerve cells.

Congenital fibrosis of the extraocular muscles (CFEOM) is a condition caused by a mutation in the TUBB2B gene. This condition affects the muscles responsible for eye movement, leading to limitations in the ability to move the eyes. The extraocular muscles are the muscles that control eye movement.

In addition to CFEOM, mutations in the TUBB2B gene have also been associated with other conditions such as polymicrogyria and lissencephaly. These conditions affect the development of the brain, leading to abnormal folds or smoothness of the cerebral cortex.

OMIM provides a comprehensive catalog of genes and the diseases associated with them. It includes a wealth of information such as gene names, protein names, the sequence of the gene, and references to scientific articles and other resources. OMIM also provides information on genetic testing and resources for additional information on specific genes and disorders.

When searching for information on the TUBB2B gene or any other gene or disorder, OMIM is a valuable resource. It provides a centralized and reliable source of information on genes and their related diseases.

References:

Gene and Variant Databases

When studying genetic diseases and conditions related to the TUBB2B gene, it is important to refer to gene and variant databases for accurate information and resources. These databases provide valuable information about the gene, its proteins, associated diseases, and the genetic changes or variants that can occur.

One such database is OMIM (Online Mendelian Inheritance in Man), which catalogues genetic disorders and their associated genes. OMIM provides detailed information on the TUBB2B gene and its related conditions such as lissencephaly, polymicrogyria, and congenital fibrosis of the extraocular muscles. It also lists additional genes that can cause similar conditions.

PubMed, a scientific research database, is another valuable resource for studying the TUBB2B gene. It provides access to a vast collection of articles and references related to the gene, its proteins, and the diseases it causes. PubMed can be used to find research papers and clinical studies on TUBB2B and related conditions.

The TUBB2B gene is a member of the tubulin protein family, which is involved in the structural support and movement of cells. Gene and variant databases often provide information on the sequence of the tubulin protein and the specific changes or mutations that occur in the TUBB2B gene. These databases can be used to find information on the location and effect of specific gene mutations.

In addition to OMIM and PubMed, there are several other gene and variant databases that provide information on the TUBB2B gene and related conditions. One such database is the Genetic Testing Registry (GTR), which lists available genetic tests for the TUBB2B gene and provides information on the labs that offer these tests.

The TUBB2B gene is also listed in resources like the Radiol gene database, which specifically focuses on genes related to radiology and its related conditions. This database can be a useful tool for radiologists and other medical professionals studying conditions involving the TUBB2B gene.

Overall, gene and variant databases are important resources for understanding the TUBB2B gene, its related proteins, and the diseases it causes. These databases provide scientific and clinical information that can be crucial for accurate diagnosis, testing, and treatment of genetic conditions associated with the TUBB2B gene.

References

  1. TUBB2B gene testing

    Variant testing of the TUBB2B gene for head and eye movement disorders such as lissencephaly and eyelid conditions.

  2. TUBB2B gene

    Isolated TUBB2B gene causes various disorders and conditions. For more information, refer to the scientific databases and resources mentioned below.

  3. Genetic resources and health databases

    Additional information on the TUBB2B gene and related diseases can be found in scientific databases such as PubMed and OMIM.

  4. Tubulin proteins

    The TUBB2B gene codes for β-tubulin proteins that are necessary for the normal functioning of muscles and nerves, including the extraocular muscles responsible for eye movement.

  5. Registry and catalog resources

    The TUBB2B gene and associated disorders may be listed in registries and catalogs that provide comprehensive information on genetic conditions and related genes.

  6. Sequence and mutation information

    For detailed information on the TUBB2B gene sequence and related genetic changes, refer to scientific articles and research publications.

  7. Related scientific articles

    The scientific literature contains numerous articles discussing the TUBB2B gene and its involvement in various diseases and disabilities. These articles provide valuable insights and information.

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