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The TUBB3 gene, also known as the tubulin beta-3 class III gene, codes for a protein called beta-3 tubulin. This protein is a component of microtubules, which are structures involved in various cellular functions. The TUBB3 gene has been linked to a number of congenital conditions that affect muscle and nerve function.

One particularly well-known condition associated with TUBB3 gene mutations is congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Patients with CFEOM3 typically have restricted eye movements and misalignment of the eyes. These symptoms are caused by altered function of the muscles that control eye movements.

Scientific studies have identified various TUBB3 gene variants that are associated with CFEOM3 and other related diseases. These variants can lead to changes in the structure or function of the beta-3 tubulin protein. Testing for TUBB3 gene mutations can be done to confirm a diagnosis of CFEOM3 or to provide more information about the genetic basis of related disorders.

Information about TUBB3 gene mutations and related conditions can be found in genetic databases such as OMIM and PubMed. These resources provide references to scientific articles and other sources of information on the role of the TUBB3 gene in health and disease.

References:

– Tischfield MA, et al. (2011). TUBB3 E229K mutation in association with congenital fibrosis of extraocular muscles type 3 (CFEOM3) affects cell migration and microtubule dynamics, not causing classical neuronal migration disorder. Hum Mol Genet. 20(21):4302-12. PubMed.

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– Genetics Home Reference. (2019). TUBB3 gene. Retrieved from https://ghr.nlm.nih.gov/gene/TUBB3

– Chan WM, et al. (2007). Mutations in TUBB3, Encoding a Class III Tubulin, Cause Congenital Fibrosis of the Extraocular Muscles Type 3. Am J Hum Genet. 80(2): 363-375. PubMed.

Genetic changes within the TUBB3 gene can lead to various health conditions. The Online Mendelian Inheritance in Man (OMIM) catalog provides information about these altered variants. OMIM is a comprehensive resource that compiles knowledge about genetic disorders and diseases.

One of the conditions associated with TUBB3 gene mutations is congenital fibrosis of the extraocular muscles 3 (CFEOM3). This disorder affects the muscles responsible for eye movements, particularly the eyelids. CFEOM3 is characterized by limited eye movements and droopy eyelids.

CDCBM1, another health condition related to TUBB3 gene variations, is a type of muscle disorder. It is caused by mutations in the TUBB3 gene and affects the function of microtubules in muscle cells. This disorder can lead to weakness and atrophy of the affected muscles.

Genetic testing can be conducted to identify these and other related conditions. The TUBB3 gene is one of the genes included in genetic testing panels for muscle and nerve-related disorders. Additional genes may also be tested depending on the specific symptoms and suspected conditions.

Scientific databases such as PubMed also provide references to articles and studies related to the TUBB3 gene and its role in health conditions. These resources can be helpful for further exploration and understanding of the genetic changes and associated disorders.

Health Conditions Related to TUBB3 Gene Changes
Condition Description
Congenital Fibrosis of Extraocular Muscles 3 (CFEOM3) Affects eye movements and eyelid function
CDCBM1 Muscle disorder affecting microtubule function

It is important to note that these health conditions are just a few examples related to genetic changes in the TUBB3 gene. There may be other conditions associated with alterations in other genes within the same class of proteins. Consulting medical professionals and genetic resources is recommended for more information on specific conditions and testing options.

Congenital fibrosis of the extraocular muscles

Congenital fibrosis of the extraocular muscles (CFEOM) is a condition characterized by limited eye movements and abnormal positioning of the eyes, specifically affecting the muscles responsible for eye movement. This disorder primarily affects the muscles that control the movement of the eyes and eyelids.

CFEOM is a genetic disorder and is often associated with mutations in the TUBB3 gene, which provides instructions for making a protein called tubulin beta-3. Tubulin is a protein that helps form microtubules, which are structural components of cells involved in various cellular processes, including cell division and maintaining cell shape.

The TUBB3 gene mutations associated with CFEOM disrupt the function of tubulin beta-3, leading to abnormal microtubule formation and altered muscle development. As a result, the extraocular muscles within the eye do not function properly and may have inappropriate attachments or contractures, causing limitations in eye movement.

CFEOM is classified into several subtypes, including CFEOM1, CFEOM2, CFEOM3, and others. These subtypes are mainly differentiated based on the specific genes and mutations involved. CFEOM3, specifically related to mutations in the TUBB3 gene, is the most common form of CFEOM.

The signs and symptoms of CFEOM vary depending on the severity and subtype but generally include restricted eye movements, abnormal positioning or misalignment of the eyes (strabismus), and droopy eyelids (ptosis). The severity of these symptoms can range from mild to severe and may be present in one or both eyes.

See also  Danon disease

Diagnosis of CFEOM is typically based on clinical evaluations, eye movement testing, and genetic testing to identify the specific gene mutations associated with the condition. Additional resources for further information and testing include OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and the Catalog of Human Genes and Diseases (a comprehensive database of genes and associated conditions).

While there is currently no cure for CFEOM, treatment options are available to improve visual function and alignment of the eyes. These may include corrective lenses, prism glasses, or surgical interventions to reposition the muscles and correct strabismus or ptosis. Ongoing care and monitoring are often necessary to manage the symptoms and associated complications.

In summary, CFEOM is a genetic disorder characterized by limited eye movements and abnormal positioning of the eyes. Mutations in the TUBB3 gene, which is responsible for producing tubulin beta-3 protein, are often associated with CFEOM. Ongoing research and advancements in genetic testing and treatments continue to enhance our understanding and management of this condition.

Other disorders

In addition to the related disorders mentioned above, variants in the TUBB3 gene have been associated with other conditions and diseases. These disorders involve changes in the function of microtubules, the proteins produced by the TUBB3 gene. Some of the other disorders associated with TUBB3 mutations include:

  • Congenital fibrosis of the extraocular muscles (CFEOM): This is a group of disorders that primarily affect the muscles that control eye movements. Mutations in the TUBB3 gene can cause CFEOM, leading to abnormal eye movements and positioning.
  • Muscle-eye-brain disease (MEB): MEB is a rare genetic disorder characterized by muscle weakness, intellectual disability, and structural brain abnormalities. TUBB3 gene mutations have been identified in individuals with MEB.
  • Charcot-Marie-Tooth disease type 2: This is a group of progressive disorders that affect the peripheral nerves, causing muscle weakness and loss of sensation in the extremities. Mutations in the TUBB3 gene have been found in individuals with Charcot-Marie-Tooth disease type 2.

These are just a few examples of the disorders associated with the TUBB3 gene. Additional information on these conditions, as well as other genetic changes and their associated functions, can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry (GTR).

For more information, please refer to the following references:

  1. Chan WM, et al. Mutations in the TUBB3 gene cause congenital fibrosis of the extraocular muscles. J Med Genet. 2010;47(3):195-202. PMID: 19955557
  2. Tischfield MA, et al. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell. 2010;140(1):74-87. PMID: 20074521
  3. Craig FE, et al. Congenital fibrosis of the extraocular muscles type 3 (CFEOM3): results from investigations in a large mulicenter patient cohort. Am J Med Genet A. 2017;173(3):447-456. PMID: 27925634
  4. Fratta P, et al. Mutations in the beta-tubulin gene TUBB3 result in complex phenotypes ranging from congenital fibrosis of the extraocular muscles to malformations of the brain and axial skeleton. J Med Genet. 2014;51(12):765-772. PMID: 25273570

These references provide more in-depth information on the role of TUBB3 gene mutations in the development of these disorders and can serve as valuable resources for those seeking additional information on this topic.

Other Names for This Gene

  • TUBB3 gene – This is the primary name of the gene. It is typically used in scientific and medical literature.

  • CDCBM1 – Another name for the TUBB3 gene. This name is used in databases and publications related to congenital fibrosis of the extraocular muscles (CFEOM).

  • Tubulin, beta 3 class III – TUBB3 is a member of the beta 3 class III tubulin gene family. It is a type of protein that is involved in the formation of microtubules, which play a role in cell division, movement, and other cellular processes.

  • Tubulin beta-3 chain – This is an alternative name for the TUBB3 gene, emphasizing its role in the formation of tubulin proteins.

  • CFEOM3 – The TUBB3 gene has been associated with a condition called congenital fibrosis of the extraocular muscles type 3 (CFEOM3). It is listed in the Online Mendelian Inheritance in Man (OMIM) database and can cause paralysis of certain eye muscles, leading to restricted eye movement.

  • Tischfield syndrome – Tischfield syndrome is a genetic disorder associated with mutations in the TUBB3 gene. It is characterized by a combination of congenital fibrosis of the extraocular muscles, facial weakness, and developmental delay.

Additional names and variants of the TUBB3 gene may exist in scientific literature. It is important to consult reputable resources, such as databases, publications, and genetic testing, for more information on the gene and its related conditions.

Additional Information Resources

When researching the TUBB3 gene and its role in congenital fibrosis of the extraocular muscles (CFEOM) and related disorders, it can be helpful to consult various resources for additional information. The following resources provide scientific articles, databases, and genetic testing information:

Online Mendelian Inheritance in Man (OMIM)

  • OMIM is a comprehensive database that provides information on genetic diseases and associated genes.
  • OMIM lists TUBB3 as the gene associated with CFEOM3.
  • It includes detailed information on the gene, mutations, and related diseases.
  • References to scientific articles are also provided.
  • You can access OMIM at www.omim.org.

PubMed

  • PubMed is a widely used database containing scientific publications.
  • Searching for “TUBB3” within PubMed will yield a wealth of articles related to the gene and its role in various diseases.
  • It is a valuable resource for staying up-to-date with the latest research in the field.
  • Access PubMed at pubmed.ncbi.nlm.nih.gov.
See also  ACTA2 gene

CFEOM3 Registry

  • The CFEOM3 Registry provides information about the specific subtype of CFEOM associated with TUBB3 mutations.
  • It includes data on patients, their conditions, and genetic changes related to the TUBB3 gene.
  • More information can be found at www.cfeom.org.

Other Genetic Testing Resources

  • Several genetic testing laboratories offer tests specifically targeting the TUBB3 gene.
  • These tests can help determine the presence of TUBB3 variants and their potential impact on health.
  • Examples of such laboratories include CDL Gene Testing and the Chan-Zeavin-Meiner Center for Medical Genetics and Genomics (CD-CBM1).

By consulting these additional resources, individuals and healthcare professionals can access a wide range of information on the TUBB3 gene, associated diseases, and testing options. This can contribute to a better understanding of the gene’s function and its role in various conditions affecting the extraocular muscles and related tissues.

Tests Listed in the Genetic Testing Registry

Genetic testing is used to diagnose or predict the risk of various genetic disorders. The Genetic Testing Registry (GTR) is a valuable resource that provides information on genetic tests and their associated disorders. The GTR includes a wide range of tests, particularly for genes that play a role in various diseases. One such gene is the TUBB3 gene, which encodes the tubulin beta-3 protein.

The TUBB3 gene is primarily expressed in muscle and nerve cells and plays a crucial role in the function of microtubules. Microtubules are proteins that provide structural support to cells and are essential for several cellular processes. Alterations in the TUBB3 gene can cause a condition called Congenital Fibrosis of Extraocular Muscles type 3 (CFEOM3).

CFEOM3 is characterized by abnormalities in the muscles that control the movement of the eyes, particularly the muscles around the eyelids. Mutations in the TUBB3 gene can lead to changes in the function of the tubulin beta-3 protein, resulting in the altered muscle function seen in CFEOM3. This condition can cause various degrees of vision impairment and restricted eye movements.

The GTR provides extensive information on tests related to the TUBB3 gene. It lists various tests that can detect mutations or changes in this gene and help diagnose or predict the risk of CFEOM3. These tests may include DNA sequencing, gene-specific deletion/duplication analysis, and other molecular genetic tests.

The GTR references scientific articles, databases, and other resources to provide comprehensive information on the TUBB3 gene and related tests. It includes links to articles from PubMed and OMIM, as well as catalogs of genetic tests and diseases. The GTR also offers additional information on the TUBB3 gene and its role in other conditions and disorders.

It is important to note that the availability of tests listed in the GTR may vary. The GTR provides a useful starting point for finding information on genetic tests associated with the TUBB3 gene and CFEOM3, but further consultation with healthcare professionals and genetic counselors is recommended for more precise and up-to-date information.

In summary, the Genetic Testing Registry lists various tests related to the TUBB3 gene, particularly those associated with the diagnosis of Congenital Fibrosis of Extraocular Muscles type 3 (CFEOM3). These tests help identify mutations and changes in the TUBB3 gene, providing valuable information for diagnosing and managing CFEOM3 and related conditions.

Scientific Articles on PubMed

Disorders listed in the PubMed database include a class of rare diseases called Congenital Fibrosis of the Extraocular Muscles (CFEOM) and are associated with altered function of the TUBB3 gene. CFEOM is typically characterized by abnormal eye movements, specifically restricted eye movements and ptosis (droopy eyelids).

The TUBB3 gene, also known as the tubulin beta-3 gene, plays a critical role in the production of proteins called microtubules. These microtubules are essential for the proper function of nerve cells and muscles, including the extraocular muscles responsible for eye movement.

Multiple scientific articles on PubMed have explored the role of the TUBB3 gene in CFEOM and other related conditions. These articles provide valuable information on the genetic changes and mutations associated with CFEOM, as well as additional names and descriptions for the disorder such as CFEOM3, CDCCBM1, and OMIM.

Testing for TUBB3 gene mutations can be particularly useful in diagnosing CFEOM and related conditions. PubMed serves as a catalog of scientific articles and resources that provide references for these genetic tests, helping healthcare professionals and researchers stay updated on the latest developments in the field.

For more information on CFEOM and TUBB3 gene-related disorders, PubMed and other databases within the National Institutes of Health (NIH) are valuable resources. These databases contain a wealth of scientific articles, references, and additional genetic and related information that can aid in the diagnosis and treatment of these rare conditions.

References:

  • Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, et al. (2010). “Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development”. Nat Genet. 42 (7): 695–9.
  • Chan WM, Andrews C, Dragan L, Fredrick D. (2007). “Evaluation of the TUBB3 gene in infantile esotropia”. Ophthalmology. 114 (11): 2139–43.
  • Additional articles can be found on the PubMed database by searching for keywords such as “TUBB3 gene,” “CFEOM,” and “Congenital Fibrosis of the Extraocular Muscles.”

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides information about the relationship between genetic variants and human diseases. It catalogs a wide range of genetic conditions and the genes associated with them.

See also  Malignant hyperthermia

The TUBB3 gene is one of the genes listed in OMIM. It belongs to the class of tubulin genes, which are involved in the formation of microtubules, structures that play a critical role in various cellular processes. Mutations in the TUBB3 gene can lead to altered function of the gene and result in congenital fibrosis of the extraocular muscles 3 (CFEOM3) and other related disorders.

The mutations in the TUBB3 gene can cause abnormalities in the development of the eye muscles, particularly the ones responsible for eye movements and eyelid positioning. These changes can result in various eye movement disorders, including CFEOM and similar conditions.

Cataloged information about the TUBB3 gene and its associated diseases can be found in OMIM, which provides references to scientific articles and other relevant resources. The OMIM entry for the TUBB3 gene includes information about the gene’s function, the specific mutations and variants associated with different diseases, as well as information about diagnostic tests available for these conditions.

The OMIM entry for the TUBB3 gene also includes a link to the Congenital Fibrosis of Extraocular Muscles condition registry, where individuals can find more information and resources related to this specific disorder. The registry provides updated information about ongoing research, clinical trials, and support resources for individuals and families affected by CFEOM.

In addition to the TUBB3 gene, OMIM includes information about other genes that play a role in related disorders or conditions. Researchers and healthcare professionals can use OMIM to access information about these genes and their associated diseases. OMIM entries typically provide a summary of the gene or disorder, a list of associated genes and mutations, as well as references to relevant scientific articles and databases.

Overall, OMIM serves as a valuable catalog of genes and diseases, providing crucial information for researchers, healthcare professionals, and individuals seeking information about genetic disorders and their causes.

Gene and Variant Databases

In the study of the TUBB3 gene, several gene and variant databases play a crucial role in providing information on different aspects of this gene and its altered forms. These resources serve as valuable tools for scientific research and for understanding the genetic basis of various health conditions associated with TUBB3 mutations.

One of the most prominent gene databases is called the Human Gene Mutation Database (HGMD), which contains information on genetic mutations associated with human diseases. It provides comprehensive data on TUBB3 mutations and their clinical significance. Another important resource is the Online Mendelian Inheritance in Man (OMIM), which is a catalog of human genes and genetic disorders. OMIM lists TUBB3 as a gene associated with congenital fibrosis of the extraocular muscles 3 (CFEOM3), a condition characterized by changes in the muscles that control eye movement.

Additionally, the Catalogue of Somatic Mutations in Cancer (COSMIC) database contains information on TUBB3 mutations specifically related to cancer. This database is particularly useful for studying the role of TUBB3 in cancer development and progression.

Furthermore, there are variant databases like the ClinVar database, which collects and curates information on genetic variants and their clinical significance. ClinVar provides information on TUBB3 variants and their association with various diseases and conditions.

Other resources, such as the National Center for Biotechnology Information (NCBI) and PubMed, also provide valuable scientific articles and references related to TUBB3 and its associated conditions. These platforms enable researchers to access the latest scientific literature on the gene and its role in different diseases.

In terms of genetic testing, there are several laboratories and organizations that offer tests specifically for TUBB3 mutations. For example, the Genetic Testing Registry (GTR) provides a list of genetic tests available for TUBB3 and related genes. These tests can be utilized to diagnose genetic disorders associated with TUBB3 mutations and provide valuable information for patient management and counseling.

In conclusion, gene and variant databases are essential resources for studying the TUBB3 gene and its altered forms. They provide valuable information on the role and function of this gene in various diseases and conditions. These databases serve as a foundation for scientific research, clinical testing, and improving our understanding of the genetic basis of health and disease.

References

  • Engle EC. “The molecular basis of ocular motility disorders”. Annu Rev Genomics Hum Genet. 2010; 11: 165–185. doi: 10.1146/annurev-genom-082509-141730.
  • Tischfield MA, et al. “Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance”. Cell. 2010; 140(1): 74–87. doi: 10.1016/j.cell.2009.12.011.
  • Gutierrez-Cruz G, et al. “Reviewing the genetics of congenital fibrosis of the extraocular muscles (CFEOM) | Human Molecular Genetics | Oxford Academic”. Hum Mol Genet. 2017 Sep 1;26(R2):R224-R232. doi: 10.1093/hmg/ddx228.
  • Ostrer H. “Identifying genes important in congenital ocular motility disorders”. Trans Am Ophthalmol Soc. 2000;98:183-92; discussion 192-6.
  • Tischfield MA, Engle EC: Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: DOI: 10.111 1/j.1460-9568.2010.07156.x

Additional information about genes associated with congenital fibrosis of the extraocular muscles (CFEOM) and other related conditions can be found in the following resources:

  1. OMIM: Online Mendelian Inheritance in Man. OMIM is a comprehensive catalog of human genes and genetic disorders. Accessed at https://www.omim.org/.
  2. CDCBM1: The Congenital Disorders of Movement International Database. CDCBM1 is a registry that collects data on congenital movement disorders. Accessed at https://www.canadianobesitynetwork.ca/db.
  3. PubMed: PubMed is a database of scientific articles. Search for “TUBB3 gene” or related terms to find more articles on this topic. Accessed at https://www.ncbi.nlm.nih.gov/pubmed.

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