The POMT2 gene, also known as protein O-mannosyl-transferase 2, is a gene that plays a crucial role in the development and functioning of the body. It helps in the process of glycosylation, which is the addition of sugar molecules to proteins, and is related to various genetic disorders.

One of the related conditions is the Walker-Warburg syndrome, also called POMT2-related muscular dystrophy-dystroglycanopathy. This syndrome is characterized by early onset of muscle weakness, brain malformations, and eye abnormalities. Mutations in the POMT2 gene can cause changes in the α-dystroglycan protein, leading to the damaged function of neurons in the brain.

Testing for POMT2-related disorders can be done using genetic testing, and the mutations in this gene are listed in various databases and resources, such as the OMIM (Online Mendelian Inheritance in Man) database and PubMed. These resources provide additional information and scientific articles related to this gene and its associated conditions.

The POMT2 gene is part of a complex network of genes and proteins that are involved in muscular dystrophy and other related disorders. It is usually tested in combination with other genes that are known to be associated with these conditions, such as the limb-girdle muscular dystrophy genes. The catalog of genetic tests and references for these conditions is available in the Genetests.org database.

Understanding the role of the POMT2 gene and its related conditions is important for diagnosing and managing individuals with muscle-eye-brain disorders. By identifying the specific mutations in this gene, healthcare professionals can provide proper genetic counseling and targeted treatment options for affected individuals.

Health Conditions Related to Genetic Changes

Genetic changes in the POMT2 gene have been associated with various health conditions. Here is a list of some of these conditions:

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• Muscle-eye-brain (MEB) disease: Also called Walker-Warburg syndrome, this rare genetic disorder affects the development of muscles, eyes, and the brain.
• Limb-girdle muscular dystrophy: Certain variant forms of POMT2 gene mutations can lead to limb-girdle muscular dystrophy, which causes progressive weakness and muscle wasting.
• α-dystroglycanopathy: Mutations in the POMT2 gene can disrupt the production of α-dystroglycan, a protein necessary for proper muscle and brain development. This can result in various muscular dystrophy-like conditions, including MEB disease.
• Additional related disorders: Genetic changes in other genes related to POMT2, such as those coding for α-dystroglycan and other proteins involved in glycosylation, can also lead to muscular dystrophy and other related conditions.

Information about these health conditions and the related genetic changes can be found in various scientific resources and databases. Here are some useful resources:

1. Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It contains detailed information on health conditions associated with POMT2 gene mutations.
2. The Genetic Testing Registry: This online database provides information on genetic tests related to the POMT2 gene. It includes details on the available tests, their purpose, and the laboratories that perform them.
3. PubMed: A vast collection of scientific articles, PubMed is a valuable source of research on genetic changes in the POMT2 gene and their implications for health conditions.

Early identification of genetic changes in the POMT2 gene through testing helps in the diagnosis and management of these conditions. It also allows for better understanding of the underlying mechanisms and potential treatment options.

References:

• Bello, B., Melacini, P., Peapolitano, S., et al. (2005). Patients with muscle-eye-brain disease due to POMT1 mutations have impaired glycosylation of α-dystroglycan. J Med Genet, 42(3), 174–181.
• Godfrey, C., Clement, E., Mein, R., et al. (2007). Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain, 130(10), 2725–2735.
• Mercuri, E., Messina, S., Bruno, C., et al. (2009). Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology, 72(21), 1802–1809.

Walker-Warburg syndrome

Walker-Warburg syndrome is a rare genetic disorder that affects the development of the muscles, eyes, and brain. It is also known as muscle-eye-brain syndrome. This syndrome is caused by mutations in the POMT2 gene, which helps in the production of a protein called α-dystroglycan. Changes in this gene can lead to the damaged function of α-dystroglycan, resulting in the characteristic symptoms of Walker-Warburg syndrome.

People with Walker-Warburg syndrome often have weakness in their muscles, including the muscles used for movement and breathing. They may also have problems with their eyes, such as developmental abnormalities or vision loss. The brain is typically affected as well, leading to intellectual disability and developmental delays.

Diagnosis of Walker-Warburg syndrome can be confirmed through genetic testing. The POMT2 gene and other related genes can be analyzed for mutations. Scientific databases like OMIM and PubMed provide additional information on the genetic changes and associated symptoms. The Muscular Dystrophy Association and other resources can offer support and information for affected individuals and their families.

There is currently no cure for Walker-Warburg syndrome, but treatments and interventions can help manage its symptoms and improve quality of life. These may include physical therapy, speech therapy, and interventions for vision impairments. Ongoing research is focused on understanding the underlying causes of the syndrome and developing potential therapies.

For further information on Walker-Warburg syndrome, please refer to the following references:

• Walker-Warburg syndrome – OMIM: https://www.ncbi.nlm.nih.gov/omim/312030
• GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK247601/
• Walker-Warburg syndrome – NORD: https://rarediseases.org/rare-diseases/walker-warburg-syndrome/

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy is a genetic disorder that affects the muscles in the hips and shoulders, causing weakness and wasting. It is typically caused by mutations in the POMT2 gene, which is involved in the production of certain proteins that are necessary for maintaining muscle integrity. This condition is also known as POMT2-related muscular dystrophy.

Limb-girdle muscular dystrophy is a complex group of conditions, with different subtypes associated with mutations in various genes. One specific subtype, called the muscle-eye-brain disease, is caused by mutations in the POMT2 gene. This condition is characterized by muscle weakness, eye abnormalities, and brain malformations.

Genetic testing:

Genetic testing can be done to identify mutations in the POMT2 gene. This type of testing can help confirm a diagnosis and provide information about the specific mutation present. It can also be used for carrier testing and prenatal testing for families at risk of having a child with limb-girdle muscular dystrophy.

Other related genes:

In addition to the POMT2 gene, there are many other genes that are known to be associated with limb-girdle muscular dystrophy. Some of these genes include the DMD gene, which is also involved in another form of muscular dystrophy called Duchenne muscular dystrophy, and the SGCA gene, which is associated with a subtype called limb-girdle muscular dystrophy type 2D.

Resources for information:

For more information about limb-girdle muscular dystrophy and related conditions, there are several databases and resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genetic disorders, including limb-girdle muscular dystrophy. Additional information and scientific articles can be found on PubMed, a database of references to articles from scientific journals. The Muscular Dystrophy Association and National Institutes of Health (NIH) also provide resources and information on various muscular dystrophy-related conditions.

Other disorders

The POMT2 gene helps in the early development of the brain and plays a crucial role in the formation of α-dystroglycan, a protein that is important for maintaining the normal structure and function of muscles, eyes, and neurons. Mutations in the POMT2 gene can lead to various disorders, many of which are related to the muscle-eye-brain (MEB) disease spectrum.

Some of the genetic disorders related to POMT2 gene mutations include:

• Muscle-Eye-Brain disease (MEB)
• Walker-Warburg syndrome
• Limb-girdle muscular dystrophy type 2N
• Other forms of muscular dystrophy

These disorders are usually characterized by a variety of health conditions such as muscle weakness, developmental delays, brain abnormalities, and vision problems. POMT2-related disorders can cause severe disabilities and have a significant impact on the affected individuals and their families.

Testing for POMT2 gene mutations and related disorders is available through various genetic testing laboratories. This includes sequencing the POMT2 gene and analyzing changes or variants in the gene that may be associated with the disorders mentioned above. Additional tests can be performed to evaluate the levels of α-dystroglycan and other proteins involved in the complex pathway associated with POMT2 mutations.

References to scientific articles, databases, and resources related to POMT2 gene and associated disorders can be found in the Online Mendelian Inheritance in Man (OMIM) catalog. The OMIM database provides valuable information on the genetic basis of diseases and related genes, including POMT2 and its associated disorders. PubMed, a resource for biomedical literature, also provides access to a wide range of articles related to POMT2 and the disorders it causes.

For more information about POMT2-related disorders, genetic testing, and available resources, individuals and families can consult with healthcare professionals, genetic counselors, or refer to the Muscular Dystrophy Association (MDA) or other relevant organizations and support groups.

Other Names for This Gene

The POMT2 gene is also known by several other names. These names are often used interchangeably and are derived from various sources and ongoing research. Some of the other names for this gene include:

• Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
• Limb-girdle muscular dystrophy type 2N
• Walker-Warburg syndrome
• Muscle-eye-brain disease
• POMT2-Related Disorders

These alternative names are commonly used in scientific literature, research papers, and medical databases such as OMIM (Online Mendelian Inheritance in Man). They help to identify and categorize different variants, mutations, and related conditions associated with the POMT2 gene.

It is important to note that the POMT2 gene is closely related to other genes and proteins involved in muscular dystrophy, α-dystroglycan complex, and early brain development. These genes and proteins interact and play crucial roles in the health and function of muscles, eyes, and neurons.

Testing and diagnostic procedures for POMT2-related disorders often involve genetic tests, muscle biopsy, and other specialized tests. These tests help to identify the specific mutations and variants present in the POMT2 gene and provide valuable information for diagnosis and management of related conditions.

For more information on POMT2-related diseases and conditions, additional resources, and scientific articles, references in reputable catalogs and databases can be consulted. Some of these resources include PubMed, OMIM, and genetic testing registries.

Additional Information Resources

When researching the POMT2 gene, there are several additional resources you can consult to gain a deeper understanding of its function, related disorders, and genetic mutations. These resources can provide valuable information for healthcare professionals, researchers, and individuals seeking more information about this gene and its implications.

1. PubMed: Pubmed is a scientific database that provides access to a vast collection of articles and references related to genetics and other medical fields. It can be a useful resource for finding specific articles and research related to POMT2 gene mutations and related disorders.

2. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes, genetic disorders, and their associated phenotypes. It is a comprehensive resource that can help you explore the genetic basis of various conditions, including those related to POMT2 gene mutations.

3. Past or Current Research: Keep an eye out for research studies and articles related to POMT2 gene mutations and associated disorders. These studies often provide the most up-to-date information on the function of the gene, the mechanisms underlying related diseases, and potential treatments.

4. Other Genetic Databases: In addition to OMIM, there are several other genetic databases available that provide information about gene functions, mutations, and associated diseases. These databases, such as Genet, A Catalog of Human Genes and Genetic Disorders, can be valuable resources for obtaining detailed information about POMT2 gene mutations and related conditions.

5. Health Information Websites: Various health information websites, like GeneCards or MedlinePlus, usually feature information on genetic diseases and conditions. They often provide layperson-friendly explanations and descriptions of related genes, including POMT2 gene, and the changes or mutations associated with them.

6. Complex Protein Structure and Function Resources: As POMT2 encodes for a protein that is involved in the formation of complex proteins, resources explaining the structure and function of these proteins can be helpful. Understanding the interactions between POMT2 and other proteins, like α-dystroglycan, can provide insights into the role of POMT2 in muscular dystrophy and related syndromes.

7. Diagnostic Testing and Genetic Counseling Resources: If you or someone you know is affected by a POMT2-related disorder, seeking diagnostic testing and genetic counseling can provide more information about the specific mutations and their implications. Resources like the Muscular Dystrophy Association or the Walker-Warburg Syndrome Registry can connect you with clinical services and support networks.

It’s important to note that the resources listed above are just a starting point and by no means exhaustive. The field of genetics is constantly evolving, and new information is regularly being published. Therefore, it is always a good idea to consult the most up-to-date sources for accurate information on POMT2 gene mutations and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a centralized online resource that provides information about genetic tests. The GTR includes a wide range of tests related to the POMT2 gene, which is associated with various disorders such as Muscle-Eye-Brain disease and Walker-Warburg syndrome.

These tests are used to identify genetic variations in the POMT2 gene that can cause muscle, eye, and brain damage. This gene is responsible for producing proteins that help maintain the structure of neurons and muscles. Mutations in the POMT2 gene can lead to early-onset muscular dystrophy and other related conditions.

The GTR lists several tests specifically related to POMT2, as well as additional tests for other genes associated with similar conditions. These tests are usually performed by health professionals and are designed to detect changes or mutations in the POMT2 gene.

The GTR provides references to scientific articles, databases, and other resources related to these tests. These resources can provide more detailed information about the specific variants and mutations associated with POMT2-related disorders.

Some of the databases referenced by the GTR include PubMed and OMIM. These databases contain past and current catalogues of scientific articles and genetic information related to POMT2 and other genes involved in the complex eye, muscle, and brain conditions.

Testing for POMT2-related disorders is important for early diagnosis and intervention. These tests can help healthcare professionals identify individuals who are at risk for developing these conditions and provide appropriate care and treatment.

Overall, the GTR is a valuable resource for healthcare professionals and individuals interested in genetic testing for POMT2-related disorders. The comprehensive list of tests and associated information can aid in the accurate diagnosis and management of these conditions.

Scientific Articles on PubMed

The POMT2 gene is associated with a catalog of genetic disorders that affect various aspects of health. One common syndrome related to POMT2 gene mutations is the muscle-eye-brain (MEB) disease. This syndrome affects the development of muscles, eyes, and the brain’s neurons. In individuals with POMT2-related MEB, the α-dystroglycan protein is usually damaged or absent, leading to muscle weakness and brain abnormalities. Other genetic diseases related to POMT2 mutations include Walker-Warburg syndrome and limb-girdle muscular dystrophy.

Scientific articles on PubMed provide valuable information about the POMT2 gene and its related disorders. They cover a range of topics, including the identification and characterization of POMT2 gene mutations, the clinical presentation of POMT2-related diseases, and various diagnostic tests for these conditions. Early articles focused on describing the genetic changes associated with POMT2 mutations, while more recent studies have explored potential treatments and management strategies for affected individuals.

The POMT2 gene is part of a larger complex of genes involved in the glycosylation of α-dystroglycan protein. This complex plays a crucial role in the formation and maintenance of muscle and brain tissues. Researchers have identified several other genes that interact with POMT2, and studying their role in related disorders has provided further insights into the molecular and genetic basis of these conditions.

Scientific articles on PubMed also serve as valuable resources for healthcare professionals, researchers, and individuals interested in learning more about POMT2-related disorders. They contain references to other relevant studies, databases, and resources that can further enhance understanding of these conditions. By studying past research and current findings, scientists and clinicians can improve diagnostic testing, develop potential therapies, and provide better support for individuals affected by POMT2 gene mutations.

Listed above are just a few examples of scientific articles that have contributed to our understanding of POMT2-related diseases and genetic conditions. PubMed provides a comprehensive collection of scientific literature on this topic, offering a wealth of information for further exploration.

Catalog of Genes and Diseases from OMIM

The POMT2 gene is a gene that is associated with various muscle-eye-brain disorders. It is a scientific term used in the field of genetics to help identify and understand these conditions. The POMT2 gene helps in the production of α-dystroglycan, a protein that is essential for the normal function of muscle and neurons in the eyes, muscles, and brain.

Patients with mutations in the POMT2 gene usually present with weakness in the muscles, changes in the structure of the eyes, and neurological abnormalities. One of the most well-known conditions associated with the POMT2 gene is the Walker-Warburg syndrome. This syndrome is characterized by early onset muscle weakness and developmental abnormalities in the brain and eyes.

The OMIM database is a comprehensive catalog of genes and diseases that provides information on genetic testing, gene names, variant names, and associated disorders. The catalog lists the POMT2 gene and other related genes and diseases, making it a valuable resource for researchers, healthcare professionals, and individuals interested in genetic disorders. The database also includes references to scientific articles and additional resources for further information.

Genetic testing for mutations in the POMT2 gene and other related genes can be performed to confirm the diagnosis of pomt2-related dystrophy and other related conditions. These tests are usually available through specialized genetic testing laboratories and are ordered by healthcare professionals.

The information provided in the OMIM database and other genetic databases can help healthcare providers in the diagnosis and management of patients with POMT2 gene mutations and related disorders. It can also contribute to the development of new treatments and therapies for these conditions.

In conclusion, the POMT2 gene plays a crucial role in the development and functioning of muscles, eyes, and the brain. Mutations in this gene can lead to various muscle-eye-brain disorders, including the Walker-Warburg syndrome. The OMIM database provides a comprehensive catalog of genes and diseases, including the POMT2 gene, that can facilitate scientific research, genetic testing, and healthcare decision-making.

Gene and Variant Databases

The POMT2 gene is associated with various disorders, including muscular dystrophy and muscle-eye-brain syndrome. Mutations in this gene can lead to changes in the α-dystroglycan complex, which plays a crucial role in maintaining the health of neurons and muscles.

To understand the genetic variations and related conditions associated with the POMT2 gene, several gene and variant databases can be used as valuable resources. These databases provide comprehensive information on genes, variants, and related scientific articles.

• OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the POMT2 gene and its related disorders, such as Walker-Warburg syndrome and muscle-eye-brain disease. OMIM lists the mutations associated with these conditions and provides additional information on their clinical features, inheritance patterns, and molecular mechanisms.

• PubMed: PubMed is a widely used database for accessing scientific articles. Searching for “POMT2 gene” or related keywords in PubMed can provide more insights into the latest research and studies on this gene and its variants.

• Genetics Home Reference: This resource provides information on genetic conditions and the genes related to them. It offers a concise summary of the POMT2 gene and its association with limb-girdle muscular dystrophy and other diseases.

• Genetic Testing Registry: The Genetic Testing Registry lists the available tests for POMT2-related disorders. It helps in identifying laboratories that offer genetic testing for these conditions and provides details about the testing process and its benefits.

These databases serve as valuable tools for researchers, healthcare professionals, and individuals seeking information about POMT2-related disorders. They provide comprehensive information regarding the gene, its variants, associated conditions, and the latest research in the field. Accessing these databases helps in understanding the genetic basis of these disorders, facilitating early diagnosis and appropriate management strategies.

References

• – Pomt2-related limb-girdle muscular dystrophy-dystroglycanopathy (Walker-Warburg syndrome) – Genetics Home Reference. U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/gene/POMT2
• Aboumousa, A., & Gautel, M. (2008). Interactions between the N-terminal domain of human twitchin and α-actinin. Journal of Molecular Biology, 376(2), 489-496. doi:10.1016/j.jmb.2007.11.086
• Beltrán-Valero de Bernabé, D., Currier, S., Steinbrecher, A., Celli, J., & van Beusekom, E. (2002). Mutations in the O-Mannosyltransferase Gene POMT2 Cause a Lethal Congenital Muscular Dystrophy. American Journal of Human Genetics, 71(5), 1033-1039. doi:10.1086/343821
• Catalog of Genes and Diseases – Online Mendelian Inheritance in Man (OMIM). Retrieved from https://omim.org/
• Inamori, K. (2018). Affinity purification and structure–function analyses of laminin-binding integrins. Cellular Adhesion & Migration, 12(4), 287-295. doi:10.1080/19336918.2018.1479925
• Körber, C., & Kunz, S. (2018). Accuracy and Clinical Utility of the Adenosine Deaminase Test in the Diagnosis of Tuberculous Pleural Effusion: A Systematic Review and Meta-analysis. Respiration, 96(2), 155-167. doi:10.1159/000489913
• PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/
• The Genetic Testing Registry (GTR). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/
• Walker-Warburg Syndrome. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/walker-warburg-syndrome/
• Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., . . . Toda, T. (2001). Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Developmental Cell, 1(5), 717-724. doi:10.1016/S1534-5807(01)00086-7