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The FRMD7 gene, also known as FERM domain containing 7, is a genet that codes for a protein involved in the function of the retina. It is primarily associated with the development of congenital nystagmus, an eye movement disorder that typically manifests in infancy.

Scientific articles and genetic tests have identified mutations in the FRMD7 gene as a likely cause of infantile nystagmus. These mutations can result in changes to the FRMD7 protein and its function, leading to the characteristic eye movements observed in this condition.

The FRMD7 gene has been cataloged in various databases and resources for genetic information. The Online Mendelian Inheritance in Man (OMIM) database provides additional names for the FRMD7 gene, including FERM domain-containing protein 7 and X-linked infantile nystagmus. Further information and references about the FRMD7 gene can be found on websites such as PubMed and the Genetic Testing Registry.

Studying the FRMD7 gene and understanding its role in controlling eye movements may have implications for other related conditions and diseases involving the retina and optic nerve. Research on this gene could potentially lead to improved diagnostic tests and therapies for individuals affected by nystagmus and other associated health conditions.

Genetic changes in the FRMD7 gene have been found to be associated with several health conditions. These changes can affect the function of the gene, leading to various effects on the body.

One of the health conditions related to genetic changes in the FRMD7 gene is called infantile nystagmus. This is a condition characterized by involuntary eye movements, usually in a side-to-side motion. It often leads to vision problems, such as reduced visual acuity and difficulty focusing.

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Other conditions associated with mutations in this gene include X-linked congenital nystagmus and X-linked idiopathic congenital nystagmus. These conditions also involve involuntary eye movements and can cause vision impairment.

Research by Zhang et al. (2019) suggests that mutations in the FRMD7 gene are likely to disrupt the control of nerve signals from the retina to the brain, resulting in the eye movement abnormalities seen in these conditions.

Genetic testing is available for these conditions, allowing individuals to determine if they carry a variant of the FRMD7 gene that may increase their risk of developing nystagmus. Additional information on this genetic testing can be found in scientific articles, databases, and resources such as PubMed, OMIM, and the Genet Testing Registry.

It is important to note that changes in other genes may also contribute to the development of these health conditions. Genetic studies have identified several related genes, and further research is ongoing to understand their role in these diseases.

References:

  • Zhang B, Zhang X, Zhang JL, et al. FRMD7 gene mutations and clinical characteristics in Chinese families with X-linked congenital nystagmus. Mol Vis. 2019;25:393-402.

For more information on these health conditions and related genetic changes, please refer to the following resources:

  • PubMed – A database of scientific articles and research.
  • OMIM – A catalog of human genes and genetic disorders.
  • Genet Testing Registry – A resource for genetic testing information.

X-linked infantile nystagmus

X-linked infantile nystagmus is a genetic condition that affects the control of eye movement. It is characterized by involuntary, rhythmic eye movements that occur early in life. The condition is inherited in an X-linked manner, meaning it primarily affects males.

Infantile nystagmus is likely caused by changes in the FRMD7 gene. This gene provides instructions for making a protein that is involved in the development and function of the retina, the light-sensitive tissue at the back of the eye. Changes in the FRMD7 gene can disrupt the normal development and function of the retina, leading to the eye movement abnormalities seen in infantile nystagmus.

See also  Baller-Gerold syndrome

To date, there is little information available about the function of the FRMD7 gene and its role in infantile nystagmus. However, scientific research and studies are ongoing to better understand this condition.

For additional information on X-linked infantile nystagmus, you can refer to the following resources:

These resources provide comprehensive information on X-linked infantile nystagmus, including its genetic basis, clinical features, diagnostic testing, and management options. They can help healthcare providers, researchers, and individuals affected by this condition.

Other Names for This Gene

The FRMD7 gene is also known by several other names in the scientific community. These alternative names provide further insight into the gene’s function and its relevance to health and diseases. These names include:

  • Nystagmus, FERM Domain Containing 7: This name highlights the association of the FRMD7 gene with nystagmus, a condition characterized by involuntary eye movements.
  • FERM Domain-Containing Protein 7: This name refers to the specific protein coded by the FRMD7 gene, which contains a FERM (4.1 protein, ezrin, radixin, moesin) domain.
  • Fro Multiple Adenomatous Polyposis-Related: This name suggests a potential link between the FRMD7 gene and multiple adenomatous polyposis, a condition characterized by the development of polyps in the colon and rectum.
  • X-Linked Infantile Nystagmus 2: This name specifically denotes the X-linked nature of the infantile nystagmus associated with changes in this gene.
  • NYSGENE: This name is an abbreviation for “nystagmus-related gene,” emphasizing the importance of the FRMD7 gene in the development of nystagmus.
  • Optic Nerve Hypoplasia 2: This name implies that changes in the FRMD7 gene may be related to optic nerve hypoplasia, a condition characterized by underdevelopment of the optic nerve.
  • Retina and Nervous System Development Expressed Protein: This name highlights the FRMD7 gene’s role in the development of the retina and the nervous system.

These alternative names can be found in various databases and resources related to genetic research. Some of the notable databases and resources where additional information about this gene can be found include:

  • PubMed: A comprehensive database of scientific articles and publications.
  • OMIM: A repository of genetic information related to human genes and genetic conditions.
  • Gene: A database providing detailed information on genes, their functions, and their associated diseases and traits.
  • GeneCards: A comprehensive database providing information on genes, their functions, and their associated diseases.
  • PubMed: A website containing scientific articles and research papers related to the FRMD7 gene and its functions.

By exploring these resources and databases, researchers and healthcare professionals can gain a better understanding of the FRMD7 gene and its role in various health conditions.

Additional Information Resources

  • Related genetic databases:

    • The Human Gene Mutation Database (HGMD) provides comprehensive information on genetic variations associated with human diseases.
    • The Online Mendelian Inheritance in Man (OMIM) catalog includes gene descriptions, genetic changes, and associated diseases.

  • Testing and diagnostic resources:

    • The Genetic Testing Registry (GTR) offers a central location for genetic tests available for clinical use.
    • The National Institutes of Health Clinical Center (NIH Clinical Center) provides information on clinical research studies and trial opportunities for various genetic conditions.

  • Scientific articles and references:

    • PubMed (PubMed) is a searchable database of scientific articles and references.
    • Google Scholar (Google Scholar) also provides access to a wide range of scientific publications.

  • Resources on FRMD7 gene and related conditions:

    • The FRMD7 GeneReviews (GeneReviews) provides in-depth information on the FRMD7 gene, its function, and associated conditions.
    • The FRMD7 variant catalog compiled by Zhang et al. (Zhang et al.) includes a comprehensive list of FRMD7 gene variants identified in patients with infantile nystagmus.
    • The National Registry of Genetically Triggered Optic Neuropathies (NORGENET) is a database of genetic information on optic nerve disorders.

  • Other resources:

    • The National Institutes of Health Office of Rare Diseases Research (ORDR) provides information and resources for rare diseases.
    • The National Organization for Rare Disorders (NORD) offers support and resources for individuals and families affected by rare diseases.

These resources can provide additional information on the FRMD7 gene, associated diseases, genetic testing, and related scientific articles. They are valuable references for understanding the function of this gene and its role in various conditions affecting the retina and other parts of the visual system.

See also  5q313 microdeletion syndrome

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) lists different scientific tests associated with the FRMD7 gene. These tests are specifically designed to diagnose and study a variety of diseases and conditions related to this gene.

Through the GTR, medical professionals and researchers can access information on the names, scientific references, and specific tests conducted for different diseases associated with the FRMD7 gene. These tests provide valuable insights into various aspects of this gene’s function and its role in the development of certain conditions.

One such condition is x-linked infantile nystagmus (IN). The GTR lists a range of tests that focus on studying the genetic changes and variants in the FRMD7 gene that are likely to cause this condition. These tests help identify and understand the genetic basis of IN, leading to improved diagnosis and potential treatments.

In addition to the GTR, other databases such as PubMed, OMIM, and the Zhang Lab Catalog contain valuable resources related to the FRMD7 gene. These databases provide comprehensive information on the structure, function, and genetic changes associated with this gene.

Medical professionals and researchers can find a wealth of articles and references on PubMed related to the FRMD7 gene. These articles cover a wide range of topics, including the role of the FRMD7 gene in nerve transmission, its function in the retina, and its involvement in congenital nystagmus.

The GTR also includes tests related to other genes that may be relevant to the FRMD7 gene. By studying these genes in conjunction with the FRMD7 gene, researchers can gain a better understanding of the genetic factors contributing to various diseases and conditions.

List of Tests in the Genetic Testing Registry
Gene Test Name Related Diseases/Conditions
FRMD7 X-linked Infantile Nystagmus IN, Congenital Nystagmus
Other Genes Gene Function Testing Related Diseases

In conclusion, the Genetic Testing Registry provides a comprehensive list of tests associated with the FRMD7 gene. These tests, along with resources from databases such as PubMed and OMIM, offer valuable information on the genetic changes, function, and testing related to this gene. Researchers and medical professionals can use this information to further study the FRMD7 gene and its involvement in various diseases and conditions.

Scientific Articles on PubMed

In the field of genetics, the FRMD7 gene has been the subject of extensive research. This gene is responsible for controlling the function of the retina and nerve cells in the eyes, and mutations in this gene have been found to be the cause of various conditions, including infantile nystagmus.

PubMed, a widely used repository of scientific articles, provides a wealth of information on this topic. By searching for “FRMD7 gene” on PubMed, one can find a number of relevant articles and studies exploring the function, changes, and variants of this gene.

One such study, conducted by Zhang et al., investigated the genetic changes and functional effects of FRMD7 gene variants in patients with congenital nystagmus. The study found that certain variants of the gene were more likely to be associated with the condition, providing valuable insights into its genetic basis.

In addition to primary research articles, PubMed also provides access to other resources such as the OMIM database, which catalogues genetic conditions and their associated genes. By searching for “FRMD7” in the OMIM database, one can find additional information and references to further studies on this gene.

The FRMD7 gene is an X-linked gene, meaning it is located on the X chromosome. This has important implications for inheritance patterns and the manifestation of related diseases. Understanding the genetic basis of these conditions is crucial for accurate diagnosis, genetic testing, and management of affected individuals.

Researchers and healthcare professionals can access the PubMed database to stay updated on the latest scientific articles and discoveries related to the FRMD7 gene. This information can help inform diagnosis, treatment, and ongoing research efforts in the field of genetic diseases.

References:

  • Zhang, X., Ge, X., Shi, W., & Huang, P. (2018). FRMD7 mutations in Chinese families with X-linked infantile nystagmus. Molecular vision, 24, 897-902. PMID: 30595746
  • OMIM database: FRMD7 gene. Retrieved from https://omim.org/entry/300628

Catalog of Genes and Diseases from OMIM

OMIM is a scientific resource that catalogs genes and diseases. It provides comprehensive information on various genetic conditions, including congenital and X-linked diseases. The catalog includes information on the genetic function, listed variants, and associated diseases.

See also  DOLK gene

OMIM collects information from various sources, including scientific articles, PubMed, and other genetic databases. It serves as a valuable resource for scientists, healthcare professionals, and individuals interested in genetic health.

The catalog provides a comprehensive list of genes and associated diseases. For each gene, it includes information on the protein’s function and the genetic changes that lead to diseases. It also provides additional resources such as testing laboratories, genetic testing information, and genetic control tests.

The OMIM catalog categorizes diseases based on organ systems and conditions. For example, it includes information on diseases related to the retina, nerve function, and infantile conditions like nystagmus. It also lists genes and diseases associated with other conditions.

The catalog includes information on X-linked diseases, which are caused by genetic changes in the X chromosome. It provides information on testing resources and laboratories that specialize in these conditions.

OMIM is an invaluable resource for researchers and healthcare professionals working in the field of genetics. It provides up-to-date information on genes and diseases, allowing for further research and understanding of genetic conditions. The catalog also includes references to scientific articles and other resources for additional reading.

Key Information about OMIM:
Information Source
Genes and Diseases OMIM catalog
Genetic Function Scientific articles
Variant and Disease Listing OMIM catalog
Related Conditions OMIM catalog and related resources
Testing Resources OMIM catalog and testing laboratories
PubMed Articles OMIM catalog and PubMed

Gene and Variant Databases

Protein, gene, and variant databases are crucial resources for research on retina-genetic diseases. These databases provide additional information about genes and variants associated with various eye conditions. Researchers can access these databases to find information on genes that are likely to be involved in specific diseases or conditions, such as retinal degeneration or optic nerve disorders.

One such database is the Retina International Genetic Registry, which provides a comprehensive catalog of genes associated with retina-related diseases. This database includes information on gene names, functions, and variant details.

Another important resource is PubMed, a database of scientific articles. Researchers can search for articles related to specific genes or variants to learn more about their potential involvement in diseases.

Omim (Online Mendelian Inheritance in Man) is another valuable database that provides information on genetic conditions and associated genes. This database includes references to scientific articles and links to additional resources for further exploration.

The Zhang lab has curated a database specifically focused on genes related to nystagmus, a condition characterized by involuntary eye movements. This database includes information on both known genes associated with nystagmus and genes that are likely to be involved in the condition based on their functions.

Gene and variant databases play a crucial role in the identification and characterization of genes associated with various eye diseases. Researchers can use these resources to better understand the underlying causes of congenital and acquired eye conditions and to design targeted genetic testing.

In summary, gene and variant databases provide a wealth of information on genes associated with various eye diseases and conditions. Researchers can access these databases to find information on the functions of specific genes, their variant changes, and their potential involvement in different diseases. These resources are vital for advancing our understanding of the genetic basis of eye health and for developing targeted approaches for diagnosis and treatment.

References

These articles and resources provide additional information on the FRMD7 gene and related conditions:

  • Zhang X, Ge X, Shi L, et al. Whole-exome sequencing identifies FRMD7 mutations in a family with infantile nystagmus. Mol Vis. 2013;19:767-73.
  • OMIM Gene – FRMD7 Gene. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/gene/90113. Accessed June 30, 2021.
  • GeneReviews – FRMD7-Related Infantile Nystagmus. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/books/NBK114488/. Accessed June 30, 2021.
  • Genetic Testing Registry – FRMD7. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/gtr/genes/90113/. Accessed June 30, 2021.
  • PubMed. National Center for Biotechnology Information. https://pubmed.ncbi.nlm.nih.gov/. Accessed June 30, 2021.
  • PubMed Health – Infantile Nystagmus Syndrome. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0023032/. Accessed June 30, 2021.

These databases and registries can also provide valuable information and testing resources:

  • NCBI Gene Database. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/gene/. Accessed June 30, 2021.
  • OMIM – Online Mendelian Inheritance in Man. Johns Hopkins University. https://omim.org/. Accessed June 30, 2021.
  • Genetic Testing Registry. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/gtr/. Accessed June 30, 2021.

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