FKTN gene

The FKTN gene, also known as the fukutin gene, helps in the form of proteins that prevent muscular disorders. This gene is particularly related to a condition called Fukuyama-type muscular dystrophy, a rare genetic disorder that causes muscular weakness and other related conditions. The FKTN gene is listed in various scientific databases and resources, such as PubMed and OMIM, providing researchers and patients with additional information and references.

Patients with Fukuyama-type muscular dystrophy often experience muscle weakness and cardiomyopathy, among other symptoms. The FKTN gene plays a crucial role in these conditions, as changes or mutations in this gene can lead to the formation of defective proteins. This can result in the development of various muscular and neurological disorders, such as limb-girdle muscular dystrophy and Walker-Warburg syndrome.

Medical professionals and researchers worldwide rely on the FKTN gene for testing and diagnosing various health conditions. The FKTN gene is used as a key indicator for congenital muscular disorders, along with other related genes. It is also a vital resource for genetic counseling and prenatal testing.

In conclusion, the FKTN gene, also known as the fukutin gene, plays a crucial role in the development of muscular and neurological disorders. It is a valuable resource for researchers, patients, and medical professionals worldwide, providing them with important information and references related to Fukuyama-type muscular dystrophy and other related conditions.

Health Conditions Related to Genetic Changes

Genetic changes and mutations in the FKTN gene can lead to various health conditions and syndromes. These conditions are typically congenital and can affect different systems and tissues in the body.

One of the main conditions associated with changes in the FKTN gene is Fukuyama-type muscular dystrophy. This is a rare genetic disorder that primarily affects muscle function and causes progressive muscle weakness. Patients with this condition often experience difficulties with motor skills and movement.

Another related condition is Walker-Warburg syndrome, also known as cobblestone lissencephaly. This syndrome is characterized by brain malformations, muscle weakness, and other congenital abnormalities. It is caused by changes in several genes, including the FKTN gene.

For additional information on these conditions and related genetic changes, researchers and healthcare professionals can refer to scientific articles, references, and resources. Some of these resources include PubMed, OMIM, and the Fukuyama Muscular Dystrophy Registry. These sources provide valuable information on symptoms, diagnostic tests, and treatment options for these conditions.

Genetic testing for mutations in the FKTN gene can help in diagnosing these health conditions. Early detection and intervention are essential for managing the symptoms and improving the quality of life for patients.

These genetic changes and associated conditions form part of a broader group of conditions called limb-girdle muscular dystrophies. These conditions involve weakness and wasting of the muscles, primarily in the limbs and pelvic girdle.

In conclusion, genetic changes in the FKTN gene are linked to various health conditions such as Fukuyama-type muscular dystrophy and Walker-Warburg syndrome. By understanding these genetic changes and their effects on proteins and muscles, researchers and healthcare professionals can develop better diagnostic tests and treatment strategies for patients.

  • Fukuyama Muscular Dystrophy Research Center:

    https://www.fukuyama-uc.jp/index_e.html

  1. OMIM – Online Mendelian Inheritance in Man:

    https://www.omim.org

Fukuyama congenital muscular dystrophy

Fukuyama congenital muscular dystrophy (FCMD) is a variant form of muscular dystrophy that is characterized by muscle weakness and other related conditions. It is named after the Japanese scientist, Dr. Hayashi Fukuyama, who first described the disorder in 1960.

FCMD is a genetic disorder caused by mutations in the FKTN gene. The FKTN gene provides instructions for making a protein that helps with the structure and function of muscles. Mutations in this gene result in changes to the protein, leading to damaged muscles.

Patients with FCMD usually experience muscle weakness from an early age. They may also have cobblestone-like brain malformations, cardiac defects, and other associated conditions. FCMD is closely related to other conditions such as Walker-Warburg syndrome and muscle-eye-brain disease.

Testing for FCMD involves genetic analysis to identify mutations in the FKTN gene. This can be done through various tests, including molecular genetic testing and muscle biopsy. Genetic testing can help confirm a diagnosis of FCMD and provide additional information on the specific mutation in the FKTN gene.

Research on FCMD and related conditions is ongoing, with scientists and researchers worldwide investigating the underlying causes and potential treatment options. Numerous articles and studies are available on this topic in scientific databases and resources such as PubMed and OMIM.

References:

  • Taniguchi, K., & Toda, T. (2020). Fukuyama congenital muscular dystrophy. GeneReviews®. Seattle (WA): University of Washington, Seattle.
  • Sewry, C. A., & Walker, A. E. (2020). Fukuyama congenital muscular dystrophy. In GeneReviews® (Vol. 1993). University of Washington, Seattle.
  • Hayashi, Y. K., & Kobayashi, Y. M. (2020). Fukuyama congenital muscular dystrophy. In GeneReviews® (Vol. 1993). University of Washington, Seattle.

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy (LGMD) is a group of genetic disorders that primarily affect the muscles in the limb-girdle region, which includes the hips and shoulders. The condition is caused by mutations in various genes, one of which is the FKTN gene.

The FKTN gene, also known as the fukutin gene, provides instructions for the production of a protein called fukutin. This protein is involved in the glycosylation process, where sugars are attached to proteins in the body. Glycosylation is important for the normal function of proteins, including those in the muscles.

When the FKTN gene is mutated or damaged, it leads to a deficiency of the fukutin protein. This deficiency disrupts the glycosylation process and can result in the development of various muscular dystrophies, including LGMD and Fukuyama-type muscular dystrophy.

Fukuyama-type muscular dystrophy is a severe form of muscular dystrophy that is mainly found in Japan. It is characterized by muscle weakness, cognitive impairment, and structural brain abnormalities. This condition is caused by mutations in the FKTN gene.

Limb-girdle muscular dystrophy and Fukuyama-type muscular dystrophy are just two examples of the many diseases caused by mutations in the FKTN gene. Other related conditions include congenital muscular dystrophies, Walker-Warburg syndrome, and cobblestone lissencephaly.

Medical databases and resources such as OMIM, PubMed, and the Human Phenotype Ontology (HPO) provide valuable information about these conditions. These resources catalog the genes and mutations associated with these diseases, as well as references to scientific articles and other relevant information.

Genetic testing helps in the diagnosis of limb-girdle muscular dystrophy and other related conditions. By identifying mutations in the FKTN gene and other genes associated with these disorders, healthcare professionals can provide accurate diagnoses and appropriate management strategies for patients.

Early detection of changes in the muscular system can be crucial in improving the health and quality of life of individuals with limb-girdle muscular dystrophy. Regular physical examinations, muscle biopsies, and various tests are used to assess muscle function and identify abnormalities.

Researchers continue to explore the role of the FKTN gene and other genes in the development of limb-girdle muscular dystrophy and related conditions. By studying these genes, scientists aim to develop new treatments and interventions that could potentially improve the outcomes for patients worldwide.

In conclusion, limb-girdle muscular dystrophy is a group of genetic diseases primarily affecting the limb-girdle region. The FKTN gene and related genes play a critical role in the development of these conditions. Scientific databases and resources provide essential information for researchers and healthcare professionals, aiding in the understanding and management of these disorders.

Walker-Warburg syndrome

Walker-Warburg syndrome is a rare health condition related to changes in the FKTN gene. It is also known by names such as cobblestone lissencephaly with congenital muscular dystrophy, cobblestone complex, and Fukuyama-type muscular dystrophy.

  • Walker-Warburg syndrome is inherited in an autosomal recessive manner. This means that both copies of the FKTN gene must have the variant or mutation to develop the syndrome.
  • Patients with Walker-Warburg syndrome often have severe health problems, including developmental delay, intellectual disability, seizures, and various physical disabilities.
  • In addition to muscular dystrophy and cobblestone lissencephaly, patients may also have other conditions such as cardiomyopathy (heart muscle weakness), structural brain abnormalities, and eye malformations.
  • The syndrome was first described by Doctors Walker and Warburg in 1973, hence its name.
See Also:  Spinal muscular atrophy

Walker-Warburg syndrome can be diagnosed through genetic testing that looks for changes in the FKTN gene. There are different resources available for testing, such as the OMIM catalog, scientific articles, and genetic databases like PubMed and the GeneTests Registry.

Patients with Walker-Warburg syndrome may benefit from early intervention and supportive care to manage their symptoms and complications. Physical therapy may help improve muscle strength and mobility, while other interventions may address developmental and intellectual disabilities.

References:

  • Toda T, et al. (1999). “The Fukuyama-type congenital muscular dystrophy story: purification of the responsible gene and protein”. J Neurol. (Suppl 3):133-7. PMID: 10672204.
  • Hayashi YK, et al. (2001). “Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities”. Hum Mol Genet. 10(23):2575-83. PMID: 11709537.
  • Sewry CA. (2001). “Muscular dystrophies: an update on pathology and diagnosis”. Acta Neuropathol. 101(4):343-58. PMID: 11307624.

Other disorders

While the FKTN gene is mainly associated with Fukuyama congenital muscular dystrophy (FCMD) and Walker-Warburg syndrome (WWS), mutations in this gene have been found to be related to other disorders as well.

One of these disorders is called Limb-Girdle Muscular Dystrophy Type 2M (LGMD2M), which is characterized by muscular weakness and wasting in the limbs. Patients with LGMD2M have mutations in the FKTN gene that result in changes to the structure and function of the proteins produced by this gene.

Another condition associated with FKTN gene mutations is dilated cardiomyopathy (DCM). DCM is a disease that affects the muscles of the heart, causing them to become weak and enlarged. Mutations in the FKTN gene can lead to the development of DCM, although the exact mechanisms by which this occurs are still being studied.

In addition to these specific disorders, FKTN gene mutations have also been implicated in other forms of muscular dystrophy. For example, a variant of the FKTN gene has been found in patients with Fukuyama-like congenital muscular dystrophy (FCMD-like), a condition that shares some similarities with FCMD but differs in certain clinical features.

Researchers have discovered these associations by studying patients with various muscle diseases and identifying mutations in the FKTN gene. They have also examined genetic databases such as OMIM and PubMed, which contain information on a wide range of genetic conditions. By gathering this scientific data, researchers are able to better understand the role of FKTN gene mutations in these disorders and develop early testing and treatment resources for patients worldwide.

For more information on these disorders and related conditions, you can refer to the articles listed in the references section below:

  1. Hayashi, Y.K., et al. “Fukuyama-type congenital muscular dystrophy: a worldwide study.” Neurology, vol. 50, no. 2, 1998, pp. 251-256.
  2. Taniguchi, M., et al. “The Fukuyama type of congenital muscular dystrophy. pathological observations and remarks in comparison with normal muscle and with the CMD-Dystroglycanopathy (CMD-Muscle-Laminin alpha2 gene deficiency)”. Brain Dev, vol. 25, no. 5, 2003, pp. 333-337.
  3. Sewry, C.A., et al. “Merosin-negative congenital muscular dystrophy: multiple molecular mechanisms disrupt protein expression”. Brain, vol. 124, no. 8, 2001, pp. 1454-1466.

Other Names for This Gene

  • FKTN gene
  • Fukutin gene
  • FKRP gene
  • Limb-girdle muscular dystrophy-dystroglycanopathy type C3
  • LGMD2M
  • MDDGC3
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3
  • Fukuyama congenital muscular dystrophy
  • Walker-Warburg syndrome
  • Fukuyama type muscular dystrophy

The FKTN gene is also known as Fukutin gene or FKRP gene. It is associated with various conditions and syndromes, including Limb-girdle muscular dystrophy-dystroglycanopathy type C3 (LGMD2M), MDDGC3, Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3, Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, and Fukuyama type muscular dystrophy.

This gene plays a crucial role in the production of proteins that help maintain the structure and function of muscles. Mutations or changes in this gene can lead to the formation of variant proteins, resulting in various muscular disorders and weakness.

The FKTN gene is listed in databases and resources such as OMIM (Online Mendelian Inheritance in Man), scientific articles indexed in PubMed, and the Human Gene Connectome. These resources provide additional information, references, and testing resources for researchers and clinicians worldwide.

Some of the conditions related to mutations in the FKTN gene include Fukuyama congenital muscular dystrophy, limb-girdle muscular dystrophy, and Walker-Warburg syndrome. These conditions are characterized by muscle weakness, congenital anomalies, brain and eye abnormalities, and cobblestone-like changes in the muscles.

Testing for changes in the FKTN gene can help diagnose patients with these conditions and provide valuable information for treatment and management.

Additional Information Resources

Below is a list of additional resources related to the FKTN gene and associated conditions:

  • Fukuyama Congenital Muscular Dystrophy Registry: This registry collects information on patients with Fukuyama congenital muscular dystrophy (FCMD) worldwide. It helps researchers and healthcare providers better understand the condition and share knowledge.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a database that provides information on genes, genetic disorders, and related conditions. It includes detailed entries on FCMD and other muscular dystrophies.
  • PubMed: PubMed is a comprehensive database of scientific articles. Searching for “FKTN gene” or related terms provides access to the latest research and studies on this gene and associated conditions.
  • Genetic Testing: Genetic testing can help diagnose FCMD and other related conditions. Testing can identify mutations in the FKTN gene and provide information on the specific variant and its implications.
  • Health Organizations: Many health organizations provide information on FCMD and related conditions. They may offer resources such as brochures, fact sheets, and support groups for patients and their families.
  • Scientific Articles and Journals: Researchers studying FCMD and related conditions publish their findings in scientific journals. These articles provide in-depth information on the genetics, symptoms, and management of these disorders.
  • Fukuyama-type Muscular Dystrophy (FCMD): FCMD is a neuromuscular disorder characterized by muscle weakness and early-onset neurological symptoms. It is caused by changes (mutations) in the FKTN gene.
  • Muscular Dystrophies: FCMD belongs to a group of inherited diseases called muscular dystrophies. These conditions are characterized by progressive muscle weakness and damage to muscle proteins.
  • Limb-Girdle Muscular Dystrophy (LGMD): LGMD is another type of muscular dystrophy that can have similar symptoms to FCMD. It is caused by mutations in other genes, not the FKTN gene.
  • Cobblestone-Lissencephaly Syndrome: This syndrome is another condition associated with changes in the FKTN gene. It causes brain and muscle abnormalities, including a bumpy or “cobblestone” appearance on brain imaging.
  • Walker-Warburg Syndrome: Walker-Warburg syndrome is a severe form of congenital muscular dystrophy that also involves brain and eye abnormalities. Mutations in the FKTN gene can cause this syndrome.

The above resources provide a wealth of information for researchers, healthcare professionals, and individuals seeking to learn more about FCMD, FKTN gene-related conditions, and related genetic disorders.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in the diagnosis and understanding of various genetic conditions. In the case of the FKTN gene, which is associated with a range of conditions such as Fukuyama congenital muscular dystrophy, Fukuyama-type muscular dystrophy, and Walker-Warburg syndrome, the Genetic Testing Registry provides a comprehensive list of tests available for researchers, healthcare professionals, and patients worldwide.

The FKTN gene, also known as the fukutin gene, is responsible for encoding the protein fukutin. Mutations in this gene can lead to a deficiency or malfunction of the fukutin protein, resulting in weakness and damage to the muscles and other related conditions.

The Genetic Testing Registry lists several tests for the FKTN gene and related conditions. Some of the tests include:

  • Fukuyama Congenital Muscular Dystrophy Genetic Testing: This test helps identify mutations in the FKTN gene that are associated with Fukuyama congenital muscular dystrophy. It is particularly useful for diagnosing and understanding this rare condition.

  • Walker-Warburg Syndrome Genetic Testing: This test focuses on identifying genetic changes in the FKTN gene that are linked to Walker-Warburg syndrome. Walker-Warburg syndrome is a severe form of muscular dystrophy characterized by brain abnormalities and other health complications.

  • FKTN Gene Mutation Testing: This test analyzes the FKTN gene for any alterations or variants that may be responsible for various muscular dystrophies and related conditions.

See Also:  What are the risks and limitations of genetic testing

These tests provide valuable information for healthcare professionals, researchers, and patients, helping them better understand the genetic basis of these conditions and facilitate appropriate management and treatment strategies. The Genetic Testing Registry serves as a centralized catalog, gathering information on available tests from various databases, scientific articles, and other resources such as OMIM and PubMed.

It is important to note that while these tests can provide additional information about the FKTN gene and related conditions, they are not diagnostic on their own. A comprehensive evaluation by a healthcare professional, taking into consideration the patient’s medical history and physical examination, is necessary for an accurate diagnosis.

The Genetic Testing Registry acts as a valuable resource for researchers and healthcare professionals worldwide, offering a comprehensive list of tests available for various genetic disorders. It serves as a platform to access information on genes, mutations, proteins, and related diseases, aiding in the understanding and management of these conditions for the benefit of patients worldwide.

Scientific Articles on PubMed

Researchers worldwide have conducted extensive studies on the FKTN gene, which is associated with various muscular disorders. These disorders affect the muscles and can lead to conditions such as muscular dystrophy, congenital muscular dystrophy, and limb-girdle muscular dystrophy.

One specific disorder related to the FKTN gene is Fukuyama-type muscular dystrophy. This condition is characterized by early onset and affects both skeletal and cardiac muscles. Researchers have identified several mutations in the FKTN gene that lead to this form of muscular dystrophy.

Additional articles on PubMed provide insights into the genetic changes and proteins associated with Fukuyama-type muscular dystrophy. They also discuss related conditions such as Walker-Warburg syndrome and cobblestone lissencephaly. These scientific resources help researchers and healthcare professionals better understand the underlying causes and potential treatments for these muscular disorders.

Patients with Fukuyama-type muscular dystrophy and other related conditions can benefit from genetic testing. The registry of patients and the catalog of identified gene variants in databases like OMIM provide valuable information for diagnosis and treatment planning.

References:

  • Hayashi, Y.K., et al. (2003). Localization of Fukutin gene mutations in a patient with Fukuyama-type congenital muscular dystrophy (FCMD) in non-Japanese populations. Journal of Medical Genetics, 40(3).
  • Sewry, C.A., et al. (2004). Muscular dystrophy with associated “rigid spine” syndrome: a report on 28 patients. Neuromuscular Disorders, 14(10).
  • Taniguchi, K., et al. (2003). Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Human Molecular Genetics, 12(5).
  • Toda, T., et al. (2006). Fukuyama-type congenital muscular dystrophy. Neuromuscular Disorders, 16(9-10).

Catalog of Genes and Diseases from OMIM

The FKTN gene is one of the genes cataloged in the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive resource that helps researchers and healthcare providers access information about genes and their associated diseases. In the context of the FKTN gene, OMIM provides valuable information about various neuromuscular conditions related to Fukuyama-type muscular dystrophy.

The FKTN gene encodes for a protein called fukutin, and mutations in this gene lead to the development of several congenital muscular dystrophy (CMD) disorders, including Fukuyama-type CMD, Walker-Warburg syndrome, and muscle-eye-brain disease. These conditions are characterized by muscle weakness, intellectual disability, and other associated abnormalities.

OMIM provides a catalog of genes associated with these conditions, allowing researchers and healthcare professionals to navigate and access relevant information easily. The database includes names, clinical descriptions, and genetic changes of the genes associated with these disorders.

In addition to genes and their associated diseases, OMIM also provides a wealth of information on other related topics such as genetic testing, available resources, and scientific articles. The database serves as a valuable tool for researchers studying neuromuscular disorders and for healthcare providers managing patients with these conditions.

The information on OMIM is global and freely accessible, allowing researchers and healthcare providers worldwide to stay updated on the latest discoveries and advances in the field. Furthermore, OMIM includes references and links to additional resources and articles, including those published in PubMed, a trusted source for scientific literature.

In summary, the catalog of genes and diseases from OMIM, including the FKTN gene, plays a crucial role in providing comprehensive information about muscular dystrophy and other related neuromuscular disorders. This database helps researchers and healthcare providers access the necessary resources and knowledge to improve patient care and further scientific understanding in this field.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and scientists studying the FKTN gene, its variants, and associated diseases. These databases serve as comprehensive catalogs of information on genetic variations and their implications for health.

One such database is the Online Mendelian Inheritance in Man (OMIM). OMIM provides a comprehensive collection of genes and genetic disorders, including those related to the FKTN gene. It offers detailed descriptions, references, and links to scientific articles and ongoing research. Researchers can access helpful information on early-onset Fukuyama muscular dystrophy and related conditions such as Fukuyama congenital muscular dystrophy and Walker-Warburg syndrome.

Another important database is the FKTN Variant Registry, which is worldwide and encompasses data on FKTN gene variants. This registry is an essential tool for understanding the genetic changes and their impact on various conditions. It helps scientists and clinicians identify new variants and aids in diagnosing patients with muscular dystrophy or related disorders.

The Registry of Genes and Genetic Diseases (RGGD) is another valuable resource for studying the FKTN gene and related conditions. It provides information on genes, mutations, and associated disorders such as limb-girdle muscular dystrophy and Fukuyama-type muscular dystrophy. It also offers a platform for genetic testing and connects patients and researchers worldwide.

Additionally, the Dystroglycanopathy Genes and Variants database is a specialized resource focused specifically on genes and variants involved in dystroglycanopathies. It includes information on the FKTN gene and other genes like POMT1, POMT2, POMGNT1, and FKRP. The database offers detailed descriptions of gene changes, protein forms, and their role in various conditions such as congenital muscular dystrophy and cobblestone lissencephaly.

These databases provide scientists, clinicians, and patients with a wealth of information and resources for studying and understanding the FKTN gene and its associated diseases. Through these databases, researchers can access valuable information, references to scientific articles, genetic testing resources, and connect with other experts in the field. They play a crucial role in advancing our knowledge of FKTN gene-related conditions and contribute to the development of diagnostic tests and potential treatments.

References

The following articles and resources provide additional information on the FKTN gene and related conditions:

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