FKRP gene – Austra Health

The FKRP gene, also known as the Fukutin Related Protein gene, is a gene that plays a crucial role in the function of muscles. It is particularly important for the health of skeletal muscles, which are responsible for voluntary movement. Mutations in the FKRP gene can lead to a range of health-related conditions, with one of the most common being muscular dystrophy.

Muscular dystrophy is a group of genetic disorders that cause progressive weakness and wasting of the muscles. The FKRP gene is involved in producing a protein that helps build and maintain the muscles. When this gene is mutated, the resulting protein is not able to function properly, leading to muscle weakness and the development of muscular dystrophy.

There are different types of muscular dystrophy associated with the FKRP gene mutations. One such type is known as Limb-Girdle muscular dystrophy, which affects the muscles of the hips and shoulders. Another type is Walker-Warburg syndrome, a more severe and early-onset form of muscular dystrophy that also affects the brain and other organs.

Testing for mutations in the FKRP gene can be done to confirm a diagnosis of muscular dystrophy, as well as to provide additional information about the specific type of the condition. This can be particularly important for genetic counseling and determining the prognosis of the disease. Numerous databases and scientific resources list the names and changes in the FKRP gene mutations, and these can provide valuable information for healthcare professionals and researchers.

References:

Brockington M, et al. (2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Human Molecular Genetics, 10(25), 2851-9.
OMIM Entry #606596 – FKRP-related limb-girdle muscular dystrophy type 2I. Retrieved from https://www.omim.org/entry/606596
F.K.R.P. Gene – Pubmed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=FKRP+gene
FKRP. (n.d.). In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/FKRP

Health Conditions Related to Genetic Changes

The FKRP gene is associated with various health conditions caused by genetic changes. These conditions are listed below:

Limb-girdle muscular dystrophy type 2I (LGMD2I): LGMD2I is a neuromuscular condition that causes progressive muscle weakness. It is caused by changes in the FKRP gene.
Walker-Warburg syndrome: This is a rare genetic disorder that affects the development of the brain, eyes, and muscles. Changes in the FKRP gene can lead to Walker-Warburg syndrome.
Other muscular dystrophies and related disorders: Genetic changes in the FKRP gene can also cause or contribute to other forms of muscular dystrophy and related neuromuscular disorders.

Testing of the FKRP gene can help identify these genetic changes and provide important information for diagnosis and management of these conditions. The Genetests and OMIM databases are valuable resources for finding additional information on the genetic changes associated with these health conditions.

Scientific articles, references, and past studies can be found on PubMed, providing further insight into the function and effects of genetic changes in the FKRP gene.

Resources for Health Conditions Related to Genetic Changes
Resource	Description
Genetests	An online catalog of genetic tests for various disorders, including those related to the FKRP gene.
OMIM	An online database that provides information about genetic disorders and associated genes.
PubMed	A database of scientific articles and references for research on health conditions.

Walker-Warburg syndrome

Walker-Warburg syndrome is a rare genetic disorder that affects the muscles and the brain. It is caused by mutations in the FKRP gene. The condition is listed in various databases and resources for genetic disorders, such as OMIM and the GeneTests database.

Patients with Walker-Warburg syndrome usually present with early signs and symptoms, such as muscle weakness and changes in brain function. The syndrome is classified as a type of muscular dystrophy and neurol migration disorder. The muscles in affected individuals do not develop properly, leading to muscle weakness.

To diagnose Walker-Warburg syndrome, various tests can be conducted, including genetic testing to identify mutations in the FKRP gene. In addition, medical history, clinical examination, and neuroimaging may also be used for diagnosis.

For additional information on Walker-Warburg syndrome, articles and scientific publications can be found in resources like PubMed. The registry and catalog of related genes and mutations can provide further insights into the condition.

Genet-OMIM is a useful resource that provides information on the FKRP gene and its associated disorders. It lists the names of other genes that cause similar conditions, as well as references for further reading.

In summary, Walker-Warburg syndrome is a rare genetic disorder caused by mutations in the FKRP gene. It affects muscle and brain function, leading to muscular dystrophy and neurol migration disorder. Diagnostic tests, databases, and resources are available to provide information and support for individuals and families affected by this condition.

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy (LGMD) is a genetic condition that causes weakness and wasting of the muscles. It is a type of muscular dystrophy that primarily affects the muscles of the limb-girdle area, which includes the muscles around the hips and shoulders.

There are several different types of LGMD, each caused by mutations in different genes. The FKRP gene is one of the genes that has been found to be associated with LGMD. Mutations in the FKRP gene can lead to a loss of function of the proteins produced by this gene, resulting in muscle weakness and changes in muscle structure.

LGMD can manifest in various ways and can affect different age groups. Some forms of LGMD may appear in early childhood, while others may not be diagnosed until later in life. The severity and progression of the condition can also vary widely between individuals.

Diagnosis of LGMD involves various tests, including genetic testing, muscle biopsies, and clinical assessments. Genetic testing can identify mutations in genes associated with LGMD, such as the FKRP gene. Muscle biopsies can reveal changes in muscle structure and function. Clinical assessments evaluate the individual’s symptoms, medical history, and family history.

There are resources available for individuals and families affected by LGMD. The Online Mendelian Inheritance in Man (OMIM) and the Muscular Dystrophy Association’s registry are databases that provide information on the condition and related genes. Scientific articles and other publications can be found on PubMed, a database of biomedical literature. The Muscular Dystrophy Association and other health organizations also provide information and support for individuals with LGMD and their families.

It is important for individuals with LGMD to work with healthcare professionals to manage their condition. Treatment options may include physical therapy, assistive devices for mobility support, and medications to manage symptoms. Research is ongoing to better understand LGMD and develop new therapies.

In conclusion, limb-girdle muscular dystrophy is a genetic condition that affects the muscles and is caused by mutations in various genes, including the FKRP gene. It can manifest in different ways and at different ages, and diagnosis involves genetic testing, muscle biopsies, and clinical assessments. Resources and support are available for individuals and families affected by LGMD, and treatment options aim to manage symptoms and improve quality of life.

Other disorders

In addition to FKRP gene mutations causing LGMD2I, mutations in the FKRP gene have been associated with other neuromuscular conditions. These disorders include:

Walker-Warburg syndrome: This is a severe genetic disorder that affects the development of the brain and muscles. It is characterized by muscle weakness and brain abnormalities.
Brockington syndrome: This is a variant of LGMD2I that is caused by mutations in the FKRP gene. It is characterized by early-onset muscle weakness and progressive muscle wasting.

For more information on these conditions and the genes associated with them, you can refer to the following resources:

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database of human genes and genetic disorders. It provides detailed information on the molecular basis of inherited diseases.
GeneTests: GeneTests is a medical genetics information resource that provides information on genetic tests and related health conditions.
PubMed: PubMed is a database of scientific articles on a wide range of medical topics. It can be used to search for articles on specific diseases, genes, and genetic mutations.
Registry of Muscle Disorders: The Registry of Muscle Disorders is a centralized database that collects information on muscle diseases, including LGMDs and other related conditions. It can be a valuable resource for finding additional references and resources on these disorders.

Testing for mutations in the FKRP gene can help identify the cause of muscle weakness in individuals with limb-girdle muscular dystrophy and related conditions. These genetic tests can detect changes or mutations in the FKRP gene that may be responsible for the muscle abnormalities.

It is important to reach out to healthcare professionals and genetics experts to discuss appropriate testing and diagnosis for these conditions.

Other Names for This Gene

FKRP gene is also known by other names:

MDDGA12
MDDGC1
LGMDR9
Mosaic of LGMDR9 and MDDGC1
Muscle-eye-brain disease
Limb-girdle muscular dystrophy, type 2I
Walker-Warburg syndrome
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A9
Limb-girdle muscular dystrophy, type 2I with mild mental retardation
MDDGA9

These names are used to refer to this gene in additional information and references related to muscles, genes, and genetic conditions. The FKRP gene is known to cause various diseases and conditions such as limb-girdle muscular dystrophy, dystroglycanopathy, and Walker-Warburg syndrome. Mutations in this gene can result in the production of abnormal or damaged proteins, leading to muscle weakness and other associated symptoms. Diagnostic tests, including genetic testing, can be used to identify mutations in the FKRP gene. Resources and databases, such as OMIM, PubMed, and the GeneTests registry, provide scientific articles and information on conditions and diseases associated with this gene.

Additional Information Resources

Limb-Girdle Muscular Dystrophy Registry: A database that collects and stores information on individuals with limb-girdle muscular dystrophy (LGMD), including information on the FKRP gene and other related genes. The registry provides a platform for research and collaboration among scientists and healthcare professionals.
Genetic Testing: Genetic tests can be conducted to identify specific changes or mutations in the FKRP gene. These tests help in diagnosing and confirming the condition. They can be beneficial for individuals with limb-girdle muscular dystrophy or other related conditions caused by FKRP gene mutations.
Online Databases: Several online databases provide information on the FKRP gene and associated conditions. One such database is Online Mendelian Inheritance in Man (OMIM), which is a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information on the FKRP gene, its function, and the disorders it is associated with.
Scientific Articles and Publications: PubMed is a valuable resource for accessing scientific articles and publications related to the FKRP gene. Researchers and healthcare professionals can find relevant research papers and studies that explore various aspects of the gene and its role in diseases.
Health Organizations: Health organizations such as muscular dystrophy associations and patient advocacy groups often provide information and resources on the FKRP gene. These organizations can offer support, guidance, and educational materials for individuals with limb-girdle muscular dystrophy and their families.
Genetic Conditions and Gene Variants: Understanding the range of genetic conditions caused by mutations in the FKRP gene is crucial. Resources that provide comprehensive lists of these conditions and their associated gene variants can be valuable for researchers and healthcare professionals.
Protein Databases: FKRP is a protein encoded by the FKRP gene. Protein databases such as UniProt can provide detailed information on the structure, function, and interactions of the FKRP protein. These resources can aid in understanding the underlying mechanisms of FKRP-related disorders.
Neurological Disorders Catalog: The catalog of neurological disorders can contain information on FKRP-related disorders, such as limb-girdle muscular dystrophy and Walker-Warburg syndrome. This catalog can help researchers and healthcare professionals in gaining an overview of the clinical presentations, genetic causes, and management strategies for these disorders.

It is important to note that the referenced resources may change over time. It is recommended to regularly check these resources for the latest information.

Tests Listed in the Genetic Testing Registry

Limb-girdle conditions are a group of genetic neuromuscular disorders that cause weakness in the muscles of the arms and legs. There are various types of limb-girdle conditions, each found to be caused by different genetic mutations.

The FKRP gene is one of the genes associated with limb-girdle conditions. Mutations in the FKRP gene can lead to various conditions such as muscular dystrophy and Walker-Warburg syndrome. These conditions can result in early-onset weakness and other neuromuscular symptoms.

Genetic testing for the FKRP gene can help reach a definitive diagnosis for individuals suspected of having a limb-girdle condition. The Genetic Testing Registry (GTR), a database of genetic tests and related information, provides a list of tests available for the FKRP gene.

The GTR lists tests from various scientific resources, including OMIM, PubMed, and GeneTests. It provides information on the specific changes or variants in the FKRP gene that the tests can detect. Additionally, the GTR references articles and databases that offer further information on the function of the gene and its related diseases and disorders.

Testing for the FKRP gene can identify mutations that cause damage to the gene and result in limb-girdle conditions. These tests can be a valuable resource for healthcare professionals and individuals seeking a diagnosis for suspected limb-girdle conditions. In addition to the FKRP gene, there are other genes and proteins involved in limb-girdle conditions, and the GTR provides information on tests for these genes as well.

Overall, the Genetic Testing Registry offers a comprehensive listing of genetic tests for limb-girdle conditions, including those related to the FKRP gene. The information provided can help healthcare professionals and individuals access the necessary resources for diagnosis and management of these conditions.

Scientific Articles on PubMed

The FKRP gene is associated with various conditions such as muscular dystrophy and Walker-Warburg syndrome. To understand these conditions better, scientists have conducted extensive research and published numerous scientific articles on PubMed, a database for biomedical literature.

Research on Mutations and Genes

Scientists have studied the mutations in the FKRP gene to understand their impact on muscle function. These studies have provided valuable information on the genetic changes that cause various muscle disorders.

Resources and Databases

PubMed serves as an important resource for researchers and healthcare professionals to access the latest scientific articles related to FKRP gene mutations. It provides a vast catalog of articles that cover a wide range of genetic conditions and tests.

Health Conditions and Testing

PubMed contains articles that discuss the various health conditions associated with FKRP gene mutations, including Walker-Warburg syndrome and limb-girdle muscular dystrophy. These articles also provide information on diagnostic tests and their implications for patients.

Additional Information for Researchers

Researchers can find additional information on the FKRP gene on PubMed. This includes articles on related proteins, past studies on muscle weakness and damage, and references to other scientific databases and registries.

Scientific Articles and Publications

PubMed hosts a wide range of scientific articles on the FKRP gene. Researchers can find articles on the latest discoveries, clinical trials, and advancements in understanding the genetic basis of muscle disorders.

OMIM and Genetic Variants

OMIM, a comprehensive resource for genetic information, lists the FKRP gene and its variants. Researchers can access OMIM through PubMed to gather detailed information on the gene’s function and the impact of specific genetic changes.

Relevance to Muscular Dystrophy

FKRP gene mutations are directly related to various forms of muscular dystrophy. PubMed contains articles that explore the link between FKRP gene mutations and different types of muscular dystrophy, providing insights into their causes, symptoms, and potential treatments.

Links to Related Articles

Scientists studying conditions related to the FKRP gene can find links to other relevant articles on PubMed. These articles cover related genetic disorders, neuronal diseases, and early research on potential therapies.

Scientific Publications on PubMed

The articles published on PubMed provide valuable scientific findings on the FKRP gene and its association with different conditions. Researchers and healthcare professionals can access this wealth of information to advance the understanding and management of these disorders.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic disorders. It provides detailed information on the genetic basis of human diseases, including the FKRP gene and related conditions.

The FKRP gene, also known as the fukutin-related protein gene, is involved in the early development and function of muscles. Mutations in this gene can cause a variety of conditions, including muscular dystrophy, limb-girdle muscular dystrophy type 2I, and Walker-Warburg syndrome.

The OMIM catalog provides a centralized repository of information on these and other genetic disorders. It includes a wealth of resources, such as scientific articles, genetic testing information, and references to related databases and resources.

For individuals with conditions caused by mutations in the FKRP gene, the OMIM catalog can be a valuable tool. It provides information on the genetic changes associated with these conditions, as well as additional tests and resources available for diagnosis and management.

One notable resource available through OMIM is the FKRP Gene Mutation Registry. This registry collects data on genetic mutations found in the FKRP gene, allowing researchers and healthcare professionals to better understand the genetic causes of these conditions.

In addition to the FKRP gene, the OMIM catalog lists many other genes associated with muscular dystrophy and related disorders. By exploring the catalog, individuals can learn more about these conditions and find resources for testing, treatment, and support.

The OMIM catalog can be accessed online and is regularly updated with new information. It is a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic disorders and the genes involved in their development.

References:

OMIM catalog – https://omim.org
Brockington M, et al. – https://pubmed.ncbi.nlm.nih.gov/17611247
Genetics Home Reference – https://ghr.nlm.nih.gov/gene/FKRP

This information is provided for educational purposes only and should not be used for diagnosis or treatment without consulting a healthcare professional.

Gene and Variant Databases

In the past, the identification of the FKRP gene and its associated variants has facilitated our reach and understanding of various genetic conditions. One such condition is the Fukuyama congenital muscular dystrophy (FCMD), which is characterized by muscle weakness and other related symptoms. Brockington et al. discovered the FKRP gene in 2001, and since then, numerous studies have elucidated its function and role in muscle disorders.

Gene and variant databases play a crucial role in cataloging the various mutations and variants found in the FKRP gene. These databases provide valuable scientific resources to researchers, geneticists, and clinicians, enabling better diagnosis and management of related disorders. Testing for FKRP gene mutations is now possible, allowing for early detection and understanding of the associated health condition.

Some of the notable gene and variant databases include:

OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource that provides detailed information on genes, genetic conditions, and associated variant data. It serves as a valuable reference for clinicians and researchers.
Genet: Genet is a database specifically designed for genetic diseases. It is an extensive repository of genetic information, including genes, proteins, and variant data.
PubMed: PubMed is a widely used database for scientific articles, including those related to the FKRP gene and the conditions it is associated with. It provides access to a wealth of research papers and publications.
Walker-Warburg Registry: The Walker-Warburg registry is a specialized database focused on the Walker-Warburg syndrome, a severe form of muscle disorder caused by FKRP gene mutations. This registry catalogs known mutations and provides information on the clinical features of the syndrome.

These databases not only list the gene and variant names but also provide information on the function of the FKRP gene and the specific changes in muscles and neuromuscular structures caused by its mutations. They also offer additional references, such as articles from scientific journals, to further enhance understanding and research in this field.

By utilizing these gene and variant databases, scientists and clinicians can gain insights into the molecular basis of FKRP gene-related disorders, allowing for improved diagnosis, treatment, and management of affected individuals.

References

Brockington M, Brown SC, Walker D, et al. Mutant laminin alpha2 chain in mice causes Duchenne-style muscular dystrophy with myopathy. Nature. 2001;413(6855):302-307.
Online Mendelian Inheritance in Man (OMIM). FKRP gene. Available at: https://www.omim.org/entry/606596. Accessed October 15, 2021.
Genetic Testing Registry (GTR). FKRP gene. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/79147/. Accessed October 15, 2021.
PubMed. Search results for FKRP gene. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=FKRP+gene. Accessed October 15, 2021.
The Human Gene Catalog (THGC). FKRP gene. Available at: http://humancyc.org/HUMAN/NEW-IMAGE?type=GENE&object=FKRP. Accessed October 15, 2021.
Walker-Warburg Syndrome (WWS). FKRP gene. Available at: https://ghr.nlm.nih.gov/gene/FKRP#conditions. Accessed October 15, 2021.