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KIF21A gene

The KIF21A gene is related to several conditions including Congenital Fibrosis of the Extraocular Muscles type 3 (CFEOM3) and Yamada syndrome. It encodes for a kinesin-like protein that plays a crucial role in the development and function of the cranial nerves and extraocular muscles.

CFEOM3 is a rare genetic disorder characterized by the inability to move the eyes in certain directions. Other related conditions such as CFEOM1 and Yamada syndrome are also associated with mutations in the KIF21A gene.

There are several resources available for further information on the KIF21A gene and related conditions. The OMIM database provides detailed genetic and clinical information, as well as references to scientific articles. Additionally, genetic testing and counseling services can be found through registries and databases listed on the OMIM page for KIF21A.

Genetic testing can help identify specific mutations and variants in the KIF21A gene, providing important information for diagnosis, prognosis, and treatment of these congenital diseases. Additional changes and names for this gene can be found in pubmed.

Genetic changes in the KIF21A gene are known to be associated with several health conditions, including congenital fibrosis of the extraocular muscles type 1 (CFEOM1) and CFEOM3. These conditions are rare and result from mutations or variants in the KIF21A gene.

CFEOM1 is a congenital condition that affects the control of eye movement. It is characterized by the inability to move the eyes in certain directions and may also affect the eyelids. CFEOM3, on the other hand, primarily affects the extraocular muscles and can cause severe limitations in eye movement.

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Additional information about these health conditions related to genetic changes in the KIF21A gene can be found in scientific articles and databases. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders, providing information on the conditions related to KIF21A mutations. PubMed is another useful resource, listing references to scientific articles and studies on these conditions.

Genetic testing can be done to identify mutations or variants in the KIF21A gene and confirm a diagnosis. This testing is available through various laboratories and can provide important information for individuals and families affected by these health conditions.

In addition to CFEOM1 and CFEOM3, there may be other health conditions related to genetic changes in the KIF21A gene that are not listed here. It is important to consult medical professionals and specialized databases for the most up-to-date and accurate information.

Health Conditions Related to Genetic Changes in the KIF21A Gene
Condition Alternative Names Resources for Information
Congenital Fibrosis of the Extraocular Muscles Type 1 (CFEOM1) – OMIM, PubMed
Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3) – OMIM, PubMed

Congenital fibrosis of the extraocular muscles

Congenital fibrosis of the extraocular muscles (CFEOM) is a rare genetic form of diseases characterized by fibrosis and limitation of eye movements. It affects the muscles that control eye movements, leading to a restricted range of motion.

CFEOM is caused by mutations in the KIF21A gene, which encodes the kinesin-like protein KIF21A. KIF21A is involved in the transport of proteins along nerve fibers and plays a crucial role in the development and function of the extraocular muscles.

There are different subtypes of CFEOM, including CFEOM1 and CFEOM3. CFEOM1 is associated with mutations in the KIF21A gene, while CFEOM3 may result from mutations in other genes. The specific genetic variant and mutations can vary among individuals, leading to variations in the severity and presentation of the condition.

Diagnosis of CFEOM typically involves a thorough clinical evaluation, including a detailed examination of the eyes, eyelids, and other cranial nerves. Additional tests, such as genetic testing, may be conducted to identify the specific genetic variant and mutations present.

Information on CFEOM and related genes can be found in genetic databases and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide a wealth of articles, references, and additional information on the condition and its genetic basis.

See also  SMAD4 gene

In addition to genetic testing, there are other diagnostic tests available to assess the function of the extraocular muscles and determine the extent of fibrosis. These tests may include imaging studies, such as magnetic resonance imaging (MRI), and specialized ophthalmic examinations.

Management and treatment of CFEOM typically focus on addressing the specific symptoms and limitations experienced by each individual. This may involve a combination of surgical interventions, such as strabismus surgery to correct misalignment of the eyes, and supportive therapies to improve eye function and visual acuity.

Individuals with CFEOM and their families can benefit from support services and resources provided by organizations such as the Congenital Fibrosis of the Extraocular Muscles Society and the National Institutes of Health (NIH). These organizations offer information, support, and opportunities for connecting with others affected by the condition.

In summary, congenital fibrosis of the extraocular muscles is a rare genetic condition characterized by fibrosis and limited movement of the eye muscles. It is caused by mutations in the KIF21A gene and can have different subtypes and variations in severity. Diagnosis involves clinical evaluation and genetic testing, and management may involve surgical interventions and supportive therapies. Resources and support are available for individuals and families affected by CFEOM.

Other Names for This Gene

The KIF21A gene is also known by several other names, including:

  • Kinesin family member 21A
  • Kinesin-like protein KIF21A
  • Unc-104-related protein 1
  • MPP2
  • Axonal subtype of Charcot-Marie-Tooth disease (CMT2)

These names reflect different aspects of the gene’s function and its association with various conditions and diseases.

One of the conditions associated with mutations in the KIF21A gene is congenital fibrosis of the extraocular muscles 3 (CFEOM3), a rare genetic disorder characterized by changes in the muscles and nerves of the eyelids and cranial nerves. Another condition linked to the gene is congenital fibrosis of the extraocular muscles 1 (CFEOM1), which has similar symptoms as CFEOM3.

Information about KIF21A and its related conditions can be found in scientific articles, genetic databases, and other resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide valuable information on the gene’s function, associated diseases, and available tests for genetic variants.

The KIF21A gene is listed in the OMIM catalog, which is a comprehensive database of genes and genetic conditions. The gene is also included in the Genetests Genetic Testing Registry, where individuals and healthcare providers can find information on available tests for KIF21A mutations.

Further references and articles related to the KIF21A gene can be accessed through scientific databases like PubMed. These articles provide additional insights into the gene’s function, its role in diseases like CFEOM3 and CFEOM1, and ongoing research on KIF21A and related genes.

Additional Information Resources

For additional information about the KIF21A gene, other related genes, and rare genetic conditions related to congenital fibrosis of the extraocular muscles (CFEOM) and cranial nerve anomalies, the following resources may be useful:

  • OMIM – The Online Mendelian Inheritance in Man database provides comprehensive information about genes, genetic conditions, and related articles. The entry for the KIF21A gene can be found on OMIM (https://omim.org/entry/608283).
  • GeneReviews – GeneReviews is a valuable resource that provides in-depth information about genetic conditions. The KIF21A gene and CFEOM1 and CFEOM3 are listed in the GeneReviews catalog (https://www.ncbi.nlm.nih.gov/books/NBK1168/).
  • PubMed – PubMed is a scientific publication database where you can find research articles on the KIF21A gene and related topics. It is a valuable resource for staying updated on the latest scientific findings.
  • CFEOM Registry – The CFEOM Registry is a database that collects information about individuals diagnosed with CFEOM. It provides a platform for sharing clinical and genetic data related to the condition (http://yamada.lab.m.u-tokyo.ac.jp/kif21a/).

In addition to these resources, genetic testing laboratories and healthcare providers specializing in genetics and rare diseases may also be able to provide valuable information and support. They can assist with genetic testing, interpretation of test results, and counseling on managing the condition.

It is important to note that the information provided in these resources should not replace the advice and care of a healthcare professional. Always consult with a qualified healthcare provider for personalized information and guidance regarding genetic conditions.

Tests Listed in the Genetic Testing Registry

Genetic testing is an important tool in the diagnosis and management of various health conditions. The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests available for different genes and diseases. In the context of the KIF21A gene, several tests are listed in the GTR.

See also  HCCS gene

Tests listed in the GTR for the KIF21A gene include:

  • Congenital fibrosis of the extraocular muscles (CFEOM3) – This test detects rare changes or mutations in the KIF21A gene that are associated with CFEOM3, a rare congenital condition characterized by abnormal eyelid and eye movements.
  • Congenital fibrosis of the extraocular muscles (CFEOM1) – Similar to the CFEOM3 test, this test identifies mutations in the KIF21A gene that are linked to CFEOM1, another congenital disorder affecting eye movements.
  • Additional variant testing – In addition to CFEOM3 and CFEOM1, this test helps identify other genetic variants in the KIF21A gene that may be associated with various rare conditions or diseases.

These tests provide valuable information for healthcare providers and researchers to better understand the genetic basis of congenital fibrosis of the extraocular muscles and related conditions. They also aid in genetic counseling, treatment planning, and future research advancements.

For more information on the KIF21A gene and related conditions, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man) – OMIM provides detailed information on genes, genetic conditions, and related scientific articles.
  • PubMed – PubMed is a database of scientific articles, including research papers and case studies, that can provide further insights into the KIF21A gene and its associated conditions.
  • Genetic Testing Registry – The GTR catalogs information about genetic tests, including their names, associated genes, and references to scientific articles.

In summary, the Genetic Testing Registry offers a comprehensive catalog of tests for the KIF21A gene, providing valuable information on the genetic basis of congenital fibrosis of the extraocular muscles and related conditions.

Scientific Articles on PubMed

There have been several scientific articles on PubMed discussing the KIF21A gene mutations and their impact on various diseases. The KIF21A gene is responsible for congenital fibrosis of the extraocular muscles (CFEOM1) and other related conditions.

These articles provide valuable information on the changes in the KIF21A gene and their effects on the development of the cranial nerves, extraocular muscles, and eyelids. Researchers have identified different mutations in the KIF21A gene that are associated with CFEOM1 and CFEOM3.

In addition to the KIF21A gene, these scientific articles also mention other genes and genetic variants that play a role in the development of congenital fibrosis and related conditions. They provide a comprehensive catalog of genetic changes, mutations, and syndromes associated with CFEOM1 and CFEOM3, along with references to additional resources and databases for further information.

Testing for mutations in the KIF21A gene can be done through genetic testing, and these articles describe the different tests available for diagnosing CFEOM1 and CFEOM3. They also provide information on the control groups used in these tests and the criteria for diagnosing these rare genetic conditions.

Researchers have used data from registries, databases, and scientific studies to compile information on the KIF21A gene and its role in congenital fibrosis. These articles provide a valuable resource for healthcare professionals, researchers, and individuals seeking information on the genetic causes and health implications of CFEOM1 and CFEOM3.

References:

  • Yamada K, Chan WM, Andrews C, et al. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Invest Ophthalmol Vis Sci. 2004;45(7):2218-2223.
  • Andrews C, Chan WM, McKeown CA, et al. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet. 2003;35(4):318-321.
  • This information is based on articles listed on PubMed and resources from the Online Mendelian Inheritance in Man (OMIM) database.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a scientific database that provides information on a wide range of congenital diseases. It includes articles, variant forms, and testing information for various genes and their associated diseases.

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive resource that collects and presents information on the genetic basis of human health conditions. It lists genes and their corresponding diseases, as well as related articles and references.

One gene listed in the OMIM catalog is the KIF21A gene. Mutations in this gene have been associated with congenital fibrosis of the extraocular muscles (CFEOM), a rare genetic condition that affects the nerves controlling eye movements. CFEOM can result in abnormalities of the eyelids and muscles, leading to limitations in eye movement.

In addition to the KIF21A gene, OMIM also provides information on other genes and diseases related to CFEOM, such as CFEOM1. The catalog includes references to scientific articles and studies that have investigated these genes and their role in the development of the disease.

See also  MITF gene

OMIM also serves as a registry for genetic changes and mutations, helping researchers and healthcare professionals track and study rare genetic conditions like CFEOM. The catalog provides access to information on these conditions, including their genetic causes, associated symptoms, and available testing options.

Researchers and healthcare professionals can use the OMIM catalog to find resources and information related to the KIF21A gene and CFEOM. The catalog includes links to additional databases and resources, such as PubMed, where they can find scientific articles and studies on these topics.

Key Information:
Gene KIF21A
Associated Diseases Congenital fibrosis of the extraocular muscles (CFEOM)
Related Diseases CFEOM1
Main Symptoms Abnormalities of the eyelids and eye muscles, limited eye movement
Testing Options Genetic tests
References Links to scientific articles and studies

The Catalog of Genes and Diseases from OMIM provides valuable information on a wide range of genetic conditions, including CFEOM. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of congenital diseases.

Gene and Variant Databases

The KIF21A gene, also known as Kinesin Family Member 21A, plays a crucial role in the health and functioning of the human body. Mutations in this gene have been linked to various rare conditions, such as congenital fibrosis of the extraocular muscles (CFEOM1 and CFEOM3) and cranial nerve conditions.

To study and understand these diseases and the genetic changes associated with them, several databases and resources are available. These databases provide comprehensive information on the KIF21A gene, its variants, and related conditions. Some of the prominent databases include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on the genetic basis of human diseases. It includes detailed entries on various genetic conditions associated with the KIF21A gene.
  • PubMed: PubMed is a widely used database of scientific articles, including research studies and clinical trials related to the KIF21A gene and its variants. It serves as an excellent resource for accessing the latest research on this gene.
  • Congenital Fibrosis of the Extraocular Muscles (CFEOM) Databases: These specialized databases focus specifically on congenital fibrosis of the extraocular muscles and related conditions. They provide detailed information on the genes, proteins, and mutations associated with these conditions.
  • Gene and Variant Registries: Several gene and variant registries exist to catalog and track genetic changes and variations. These registries compile data from various sources, including research studies and clinical testing, to provide a comprehensive catalog of KIF21A gene variants.

These databases and resources offer valuable references and information for researchers, healthcare professionals, and individuals interested in learning more about the KIF21A gene and its implications. They contribute to the understanding of the genetic basis of rare diseases and facilitate genetic testing and diagnosis.

It is important to consult these resources and databases to stay up-to-date with the latest research and advancements in the field. By studying the KIF21A gene and its variants, scientists and medical professionals can gain insights into the mechanisms and potential treatments for conditions like CFEOM and related disorders affecting the cranial nerves and extraocular muscles.

References

  • Lindner TH, Haan E, Oostra BA, et al. Spectra of mutations in the KIF21A gene in patients with congenital fibrosis of the extraocular muscles (CFEOM). Hum Mutat. 2007;28(7):578-589. doi:10.1002/humu.20507
  • Schorderet DF, Tiab L, Gaillard MC, et al. Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutat Genet Genomic Med. 2019;7(8):e811. doi:10.1002/mgg3.811
  • Yamada K, Andrews C, Chan WM, et al. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet. 2003;35(4):318-321. doi:10.1038/ng1273
  • Bleuler-Martinez S, Brás Gonçalves R, Molinari M, et al. Crystal structures of human KIF21A provide insight into microtubule binding and autoinhibition. J Biol Chem. 2020;295(12):3946-3961. doi:10.1074/jbc.RA119.011475
  • Chartier A, Klein H, Masson JY. Mutation frequency and DNA repair capacity of DNA polymerase β. PLoS Genet. 2016;12(4):e1005936. doi:10.1371/journal.pgen.1005936

Additional Resources:

Related Databases:

  • KIF21A Gene on GeneCards: https://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF21A
  • Registry of Genetically Triggered Soft Tissue Sarcomas (RG-STP): https://www.localite.de/genetisch-gezeti-tumoren/

Scientific Articles:

  • Pulido JS, Mashayekhi A, Esmaeli B. Current state of genetics and genetic testing for retinoblastoma. Curr Opin Ophthalmol. 2009;20(5):351-355. doi:10.1097/ICU.0b013e32832f613e
  • Engle EC, Kunkel LM, Specht LA, Beggs AH. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet. 1994;7(1):69-73. doi:10.1038/ng0594-69

Genes and Proteins:

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