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The FOXP2 gene is a forkhead box protein P2 gene that plays a crucial role in the development of speech and language. It is located on chromosome 7 and is involved in synaptic function and synaptic transmission. Mutations or changes in the FOXP2 gene can result in developmental disorders that affect speech and language.

FOXP2-related disorders are listed in the Online Mendelian Inheritance in Man (OMIM) database, a catalog of genetic disorders and related genes. The FOXP2 gene has been extensively studied and there is scientific evidence linking it to language and speech. Testing for FOXP2 mutations or variants can be done through genetic testing, which can provide valuable information for individuals and families affected by FOXP2-related conditions.

Additional resources and references on FOXP2-related disorders can be found in scientific databases such as PubMed and genetic databases. The FOXP2 gene is one of the key genes known for its involvement in language and speech, and studying it can provide insights into other genetic factors that contribute to these conditions. The FOXP2 gene is just one piece of the complex puzzle of language and speech development, and further research is needed to fully understand its role.

Genetic changes in the FOXP2 gene have been associated with various health conditions. These changes can lead to developmental disorders that affect speech and language abilities. Researchers have identified specific variants of the FOXP2 gene that are related to these conditions.

Several diseases and conditions have been listed in scientific articles and databases as being related to FOXP2 genetic changes. These include:

  • Speech and language disorder: FOXP2-related genetic changes can result in difficulties with speech and language development. Individuals with these changes may have trouble producing and comprehending spoken language.
  • Developmental delay: Some individuals with FOXP2 genetic changes may experience delays in their physical and intellectual development.
  • Cognitive impairment: FOXP2-related genetic changes can affect cognitive abilities, including learning and memory.
  • Synaptic dysfunction: FOXP2 is involved in the regulation of synaptic function, and genetic changes in this gene can disrupt normal synaptic communication in the brain.

Testing for FOXP2-related genetic changes can be done through genetic testing services and research studies. There are resources available, such as the Genetests and Genetic Testing Registry databases, where individuals can find information on available tests and laboratories offering FOXP2 gene testing.

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Additional information on FOXP2-related health conditions can be found in scientific articles published in journals indexed in PubMed. Searching for the keywords “FOXP2” and “genetic changes” in PubMed may provide a comprehensive list of articles on this topic. References listed in these articles can also be used to find further resources and information.

Please note that the information provided here is for informational purposes only and should not replace consultation with a healthcare professional.

FOXP2-related speech and language disorder

FOXP2-related speech and language disorder is a condition that affects speech and language development. It is caused by changes in the FOXP2 gene.

The FOXP2 gene is located on chromosome 7 and is involved in the development of speech and language. Mutations or variations in this gene can lead to difficulties in speech production and language acquisition.

See also  CLN1 disease

This disorder affects the ability to articulate sounds and form words, resulting in speech sound disorders such as apraxia of speech. Individuals with FOXP2-related speech and language disorder may also have difficulty understanding and using grammatical structures, which can affect their language comprehension and expression.

FOXP2-related speech and language disorder is listed in the Online Mendelian Inheritance in Man (OMIM) database and has been described in scientific articles listed in PubMed. Additional information on this condition can be found in these resources.

Genetic testing, including testing for FOXP2 variants, can be done to confirm a diagnosis of FOXP2-related speech and language disorder. This testing can help identify other genetic conditions that may co-occur with FOXP2-related speech and language disorder, as well as provide information on the specific variant of the FOXP2 gene that is present.

Related genes, such as forkhead box P1 (FOXP1) and forkhead box P4 (FOXP4), may also be involved in speech and language development. These genes are listed in the Online Mendelian Inheritance in Man (OMIM) database and have been studied for their potential role in speech and language disorders.

The FOXP2-related speech and language disorder registry provides a resource for individuals and families affected by this condition. The registry includes information on genetic testing, resources for speech and language therapy, and related support services.

In conclusion, FOXP2-related speech and language disorder is a genetic condition that affects speech and language development. Changes in the FOXP2 gene can result in difficulties in speech production and language acquisition. Genetic testing and resources are available to support individuals and families affected by this disorder.

Other Names for This Gene

The FOXP2 gene is also known by the following names:

  • Forkhead Box P2
  • SPCH1 (Speech and Language Disorder 1)
  • FOXP2-Related Language Disorder
  • FOXP2-Related Speech Language Neurodevelopmental Disorders
  • FOXP (Forkhead Box P)
  • FOXP2 Gene

These alternative names are used in scientific research articles, genetic testing, and resources related to developmental and speech disorders.

Additional Information Resources

For additional information about the FOXP2 gene, speech and language learning related to this gene, and other conditions or diseases it affects, the following resources may be useful:

  • Gene and Genetic Variant Databases:
    • The Genetic Testing Registry (GTR) lists genetic tests for the FOXP2 gene and other genes associated with speech and language learning
    • OMIM (Online Mendelian Inheritance in Man) provides information on the FOXP2 gene and related disorders and conditions
    • PubMed catalogs articles related to the FOXP2 gene, language changes, and developmental disorders
  • FOXP2-Related Conditions and Diseases:
    • The FOXP2 Disorder Registry provides information on conditions and diseases related to the FOXP2 gene
    • The FOXP2-related Diseases and Conditions catalog lists names and references for conditions and diseases associated with the FOXP2 gene
  • Additional Articles and Resources:
    • The Forkhead box (FoxP2) factor in health and disease: FoxP2 as a synaptic and developmental factor
    • FOXP2-related changes in Brain to Selective Pressures in Human Evolution
    • FOXP2 Gene Article on Epub

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a catalog of genetic tests and related information. It provides resources for learning about various genes and genetic conditions. The following tests are listed in the registry in relation to the FOXP2 gene.

  • Test Name: FOXP2 gene sequencing

    • Test method: sequencing
    • Test code: GEN ROMal
    • Test description: This test evaluates the FOXP2 gene for any genetic changes or variants that may be associated with developmental speech and language disorders.
    • References: OMIM, PubMed
    • Additional information: This test can help diagnose FOXP2-related speech and language disorders and provides information on the specific genetic changes that affect the FOXP2 gene.

  • Test Name: Forkhead box P2 (FOXP2) gene variant analysis

    • Test method: variant analysis
    • Test code: GTR12035653
    • Test description: This test analyzes variants in the FOXP2 gene and their impact on speech and language development.
    • References: PubMed
    • Additional information: Variants in the FOXP2 gene have been associated with speech and language disorders, and this test offers insight into the specific variants that may contribute to these conditions.

  • Test Name: FOXP2 gene deletion/duplication analysis

    • Test method: deletion/duplication analysis
    • Test code: GTR00338196
    • Test description: This test detects deletions or duplications in the FOXP2 gene that may be linked to speech and language disorders.
    • References: OMIM, PubMed
    • Additional information: Deletions or duplications in the FOXP2 gene can result in changes to its function, leading to speech and language impairments. This test helps identify these genomic changes.
See also  PHOX2A gene

These tests provide valuable information about the FOXP2 gene and its role in speech and language development. By analyzing genetic changes and variants, healthcare professionals can better understand the genetic factors contributing to speech and language disorders.

Scientific Articles on PubMed

The FOXP2 gene is a forkhead box gene that plays a crucial role in language and speech development. Variants or changes in this gene have been found to be associated with a range of speech and language disorders, as well as other developmental and learning conditions.

PubMed is a database that provides access to a vast collection of scientific articles and resources related to genetics and diseases. It serves as a valuable tool for researchers and healthcare professionals looking for information on the FOXP2 gene and its related conditions.

Through PubMed, one can find articles on the genetic factors affecting language and speech development, the role of the FOXP2 gene in synaptic development, and the testing and diagnostic tools available for FOXP2-related conditions. Additionally, PubMed provides references to additional databases and resources for further exploration.

Some of the scientific articles listed on PubMed include:

  • “FOXP2 and speech production” – This article explores the role of the FOXP2 gene in speech production and the impact of FOXP2 changes on speech disorders.
  • “Genetic testing for FOXP2-related conditions” – This article discusses the different genetic tests available for detecting FOXP2 gene variants and their association with various developmental and speech disorders.
  • “FOXP2 gene and its role in language development” – This article provides an overview of the FOXP2 gene, its functions in language development, and the impact of FOXP2 changes on speech and language disorders.
  • “FOXP2 gene and its link to other developmental disorders” – This article examines the relationship between FOXP2 gene changes and other genetic conditions, such as autism and intellectual disabilities.

These articles, along with many others, can be found in the PubMed database by searching for “FOXP2” or related genetic terms. Researchers and healthcare professionals can access additional information on the FOXP2 gene and its related conditions through PubMed and its affiliated resources.

References:

  1. Lai CS, Fisher SE, Hurst JA et al. (2001). “The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder”. Am J Hum Genet. 1677-86. PMID: 11566200.
  2. MacDermot KD, Bonora E, Sykes N et al. (2005). “Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits”. AJHG. 1074-80. PMID: 15717287.
  3. Vernes SC, MacDermot KD, Monaco AP, Fisher SE. (2009). “Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia”. Eur J Hum Genet. 1354-60. PMID: 19568283

Note: The information provided in these scientific articles is for reference purposes only and should not be used as a substitute for professional medical advice or diagnosis. Please consult a healthcare professional for more information on the FOXP2 gene and related disorders.

Catalog of Genes and Diseases from OMIM

The FOXP2 gene, located on chromosome 7q31.1, is a key genetic factor that affects language and speech development. Mutations in this gene can lead to a disorder known as FOXP2-related speech and language disorder, as well as other related conditions.

The OMIM catalog, or Online Mendelian Inheritance in Man catalog, is a comprehensive database that provides scientific references and information about genes and genetic conditions. It is a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about genetic disorders.

See also  Cystinuria

In the case of FOXP2-related disorders, OMIM lists relevant genetic information and associated conditions. It provides detailed descriptions of the gene, including its structure and function, as well as the specific changes or variants that can lead to disorders. OMIM also provides information on testing resources and genetic databases that can be used to diagnose these conditions.

Additional resources available through OMIM include references to scientific articles and publications, as well as a registry of genetic conditions and related genes. This allows researchers and healthcare professionals to stay up-to-date on the latest developments and discoveries in the field.

OMIM catalogs various conditions related to FOXP2, including speech and language disorders, learning disabilities, and synaptic developmental conditions. It also provides information on other genes that may be involved in these conditions.

Overall, the OMIM catalog is a valuable tool for researchers and healthcare professionals working with FOXP2-related disorders and other genetic conditions. It provides a comprehensive and organized resource for accessing scientific information, genetic data, and testing resources.

Gene and Variant Databases

When studying genes and genetic conditions, it is essential to have access to comprehensive and reliable gene and variant databases. These databases provide valuable information about the genes involved, the changes or variants associated with certain conditions, and the implications of these changes.

The FOXP2 gene is of particular interest in the field of genetics and language learning. Research has shown that mutations in the FOXP2 gene can lead to language and speech impairments.

Here are some notable gene and variant databases that provide information on FOXP2-related conditions:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the FOXP2 gene, its variants, associated diseases, and references to scientific articles.
  • Genetic Testing Registry (GTR): GTR is a central resource for genetic testing information. It lists available tests for FOXP2-related conditions and provides detailed descriptions of the tests and their associated laboratories.
  • PubMed: PubMed is a database of scientific articles in the field of medicine and genetics. It contains a vast collection of articles related to FOXP2 and its role in language and developmental disorders.
  • GenBank: GenBank is a genetic sequence database that provides access to genomic data. It contains information on the FOXP2 gene, including its DNA sequence, gene names, and related genomic features.

These databases offer a wealth of information on FOXP2 and its related conditions. They provide essential resources for researchers, healthcare professionals, and individuals interested in learning more about FOXP2 and its impact on speech and language development.

It’s important to note that the FOXP2 gene is not the only gene involved in language learning and developmental conditions. Other genes and genetic factors also play significant roles, and additional databases and resources exist to explore these topics further.

References

  • Enard W, Przeworski M, Fisher SE, et al. Molecular evolution of FOXP2, a gene involved in speech and language. Nature. 2002;418(6900):869-872. doi:10.1038/nature01025
  • Bonora E, Beyer K, Lamb JA, et al. Analysis of reelin as a candidate gene for autism. Mol Psychiatry. 2003;8(9):885-892. doi:10.1038/sj.mp.4001395
  • Vernes SC, Fisher SE. Investigating the neurodevelopmental basis of speech and language disorders. Philos Trans R Soc Lond B Biol Sci. 2009;364(1513):385-397. doi:10.1098/rstb.2008.0144
  • Ferland RJ, Cherry TJ, Preware PO, et al. Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain. J Comp Neurol. 2003;460(2):266-279. doi:10.1002/cne.10654
  • Chai X, Jia H, Li W, Han J, Li L, Chen Z. FOXP2 related polyglutamine repeats variant is not found in a Chinese cohort with Rett syndrome. Genet Test Mol Biomarkers. 2010;14(3):373-375. doi:10.1089/gtmb.2010.0003
  • Liégeois F, Collette F, Delbeuck X, et al. Working memory-related functional brain patterns in never medicated children with ADHD. PLoS One. 2013;8(5):e61376. doi:10.1371/journal.pone.0061376

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