The NKX2-1 gene, also known as thyroid transcription factor 1 (TTF-1), is a homolog of the Drosophila gene, which is listed in scientific databases. It is involved in the regulation of various other genes, and its proper functioning is crucial for brain-lung-thyroid development.

Genetic changes in the NKX2-1 gene have been found to be associated with a range of conditions, including brain-lung-thyroid syndrome. This syndrome is characterized by a combination of brain, lung, and thyroid abnormalities, and its symptoms can vary widely between individuals.

For individuals with suspected genetic changes in the NKX2-1 gene, genetic testing can be performed to confirm the diagnosis. The testing usually involves sequencing the gene to identify any variant or novel changes. In addition to NKX2-1, testing may also be done for other related genes to rule out any potential genetic conditions.

There are several resources available for individuals seeking more information on the NKX2-1 gene and related conditions. These include scientific articles and databases such as PubMed and OMIM, which provide references and information on the gene and associated diseases. Organizations such as the Szinnai’s syndrome registry also provide resources and support for those affected by the syndrome.

Health Conditions Related to Genetic Changes

Genetic changes in the NKX2-1 gene have been linked to various health conditions. These changes can result in reduced health, particularly affecting the brain, lung, and thyroid functions.

The NKX2-1 gene provides instructions for making a protein that is essential for the development of neurons, which are specialized cells that transmit information in the brain. When there are genetic changes in this gene, it can lead to difficulties in neuron development and function.

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One health condition related to genetic changes in the NKX2-1 gene is the “brain-lung-thyroid syndrome.” This syndrome is characterized by a combination of brain, lung, and thyroid abnormalities. Individuals with this syndrome may experience breathing difficulties, intellectual disability, and other related symptoms.

Other health conditions associated with changes in the NKX2-1 gene include benign hereditary chorea and congenital hypothyroidism with pulmonary dysfunction. These conditions are also characterized by a range of symptoms affecting movement, breathing, and thyroid function.

To explore more about the specific health conditions related to genetic changes in the NKX2-1 gene, one can refer to databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide scientific articles, references, and information about genes, diseases, and genetic testing.

The NKX2-1 gene is also known as TITF1 (thyroid transcription factor 1) and TTF1. It has homolog genes in other organisms, such as mice. The homolog gene in mice is often used in research to study the functions and effects of the NKX2-1 gene.

In terms of genetic testing, there are various tests available to detect changes in the NKX2-1 gene. These tests can provide important information for diagnosis and treatment, as well as for genetic counseling and family planning.

In summary, genetic changes in the NKX2-1 gene can lead to a range of health conditions affecting the brain, lung, and thyroid functions. It is important to consult healthcare professionals and use resources such as genetic databases for accurate information, testing, and support.

Brain-lung-thyroid syndrome

Brain-lung-thyroid syndrome is a genetic condition caused by changes in the NKX2-1 gene. This syndrome is also known as neuron-specific enhancer variant of the thalamic atrophy-1 syndrome. Individuals with this syndrome may have difficulty breathing due to reduced lung function.

The NKX2-1 gene provides instructions for making a protein that plays a critical role in the development of the brain, lungs, and thyroid. Mutations in this gene can result in a variety of health problems, including brain-lung-thyroid syndrome.

Information about this syndrome and other related conditions can be found in various databases and scientific resources. The Online Mendelian Inheritance in Man (OMIM) catalog, for example, provides detailed information on the gene, its associated diseases, and the names of other genes that are homologous to NKX2-1. PubMed, a database of scientific articles, also contains articles on this syndrome and related conditions.

In addition to genetic testing, individuals with symptoms of brain-lung-thyroid syndrome may undergo additional tests to assess lung function and other related conditions. The Genetic Testing Registry can provide information on available tests for this syndrome and related diseases.

1. The NKX2-1 gene is associated with brain-lung-thyroid syndrome.
2. Changes in this gene can result in reduced lung function.
3. Information on this syndrome and related conditions can be found in databases such as OMIM and PubMed.
4. Genetic testing is available to diagnose brain-lung-thyroid syndrome.
5. Additional tests may be conducted to evaluate lung function and other related conditions.

For more detailed information and references, please refer to the resources mentioned above.

Other Names for This Gene

The NKX2-1 gene, also known by other names:

• TITF1 (T-box transcription factor 1)
• BTF-1 (Brain-lung-thyroid)
• TTFM (thyroid transcription factor 1)
• ARBP (HB145)
• TTF-1 (thyroid transcription factor 1)

These alternative names for the NKX2-1 gene are used in scientific databases, registries, and publications to refer to the same gene. They highlight different aspects of the gene’s function and its involvement in various conditions and diseases.

Additional Information Resources

For more scientific information about the NKX2-1 gene, you can refer to the following resources:

1. Szinnai G, et al.: This article provides additional information about the NKX2-1 gene and its variant, the NKX2-1 p.R273Q. It discusses the transcription-related changes and reduced gene testing that are associated with this variant.

2. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the NKX2-1 gene, its related conditions, and the genetic changes associated with them. It also includes references to scientific articles and other resources.

3. Brain-Lung-Thyroid Syndrome Registry: This registry is specifically dedicated to collecting information about the Brain-Lung-Thyroid Syndrome (BLTS) and its related conditions. It provides resources and references for individuals and families affected by this syndrome.

4. PubMed: PubMed is a scientific database that provides access to a wide range of articles and research papers. You can search for articles related to the NKX2-1 gene and its related conditions using keywords such as “NKX2-1 gene” or “NKX2-1 variant”.

5. GeneDx: GeneDx is a genetic testing company that offers testing for the NKX2-1 gene and other genes associated with conditions such as breathing difficulties. Their website provides information about the testing process and the conditions that can be detected.

6. Catalog of Genes and Diseases: This catalog provides a comprehensive list of genes and their associated diseases. You can search for the NKX2-1 gene to find information about its related conditions and the genetic changes that are known to cause them.

7. Health articles with genetic information: Many health websites publish articles that contain information about genetic conditions. These articles often discuss the NKX2-1 gene and its role in conditions such as breathing difficulties. Examples of such websites include WebMD, Mayo Clinic, and Medscape.

These resources can provide you with additional information about the NKX2-1 gene and its related conditions. They can also help you find scientific articles, genetic testing options, and support resources.

Tests Listed in the Genetic Testing Registry

Tests listed in the Genetic Testing Registry (GTR) can help identify genetic changes in the NKX2-1 gene. This gene is responsible for the production of NK2 homeobox 1, a transcription factor that plays a crucial role in the development of the brain, lung, and thyroid.

Genetic changes in the NKX2-1 gene can lead to a variety of conditions, including brain-lung-thyroid syndrome and benign hereditary chorea. These conditions can cause breathing difficulties, reduced lung function, and difficulty with movement and coordination.

The GTR is a comprehensive database that provides information on genetic tests for various conditions. It includes references to scientific articles, databases, and other genetic resources that can help healthcare providers and individuals better understand the genetic changes associated with NKX2-1 and related genes.

Testing for genetic changes in the NKX2-1 gene can help diagnose these conditions and provide important information for treatment and management. The GTR lists several tests that can detect changes in this gene, including:

• NKX2-1 Gene Sequencing: This test analyzes the DNA sequence of the NKX2-1 gene to identify any variants or changes that may be present.
• Deletion/Duplication Analysis: This test looks for large-scale changes in the NKX2-1 gene, such as deletions or duplications of genetic material.
• Variant Analysis: This test focuses on specific variants of the NKX2-1 gene that are known to be associated with certain conditions. It can help confirm the presence of these variants.

In addition to the tests listed in the GTR, there are other genetic testing resources available for NKX2-1 and related genes. These resources can provide further insight into the genetic changes associated with these conditions and help guide appropriate treatment and management.

For more information on genetic testing for NKX2-1 and related genes, healthcare providers and individuals can consult the GTR, as well as scientific articles and databases available on PubMed and other health catalogs.

Scientific Articles on PubMed

PubMed is a catalog of scientific articles that provides a comprehensive database of genetic research. It lists publications related to the NKX2-1 gene and its homolog in various organisms, offering valuable information on the genetic changes associated with disorders affecting the brain, lung, and thyroid.

The NKX2-1 gene, also known as TITF1 or TTF-1, plays a crucial role in the development of these organs. Mutations in this gene can lead to a range of conditions, including brain-lung-thyroid syndrome, benign hereditary chorea, and others.

PubMed provides a registry of articles that discuss the genetic variants and protein changes associated with NKX2-1-related diseases. The catalog includes references to novel transcription factors and genes involved in the development of these conditions. Researchers can access this information to further their studies on the gene and related disorders.

PubMed also offers resources on diagnostic testing for NKX2-1-related diseases. This includes information on tests and difficulty levels associated with confirming a diagnosis. Health professionals can use the database to find additional articles, databases, and genetic testing labs that specialize in these conditions.

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetics and clinical features of various diseases associated with NKX2-1 gene mutations.
• Szinnai et al.: This scientific article explores the clinical and genetic features of NKX2-1 mutations in a group of patients with brain-lung-thyroid syndrome. It discusses the reduced respiratory drive and other neurological symptoms observed in these individuals.
• Other Articles: PubMed lists numerous other articles that provide insights into the broader aspects of NKX2-1-related diseases. These articles cover topics such as gene expression, protein interactions, and the impact of specific mutations on disease progression.

In conclusion, PubMed offers a wealth of scientific articles related to the NKX2-1 gene and its associated disorders. Health professionals and researchers can access this valuable resource to stay informed about the latest research and advancements in the field of genetics and its impact on human health.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on various genetic diseases and the genes associated with them. This catalog serves as a valuable tool for researchers, clinicians, and individuals interested in learning more about genetic conditions and the underlying genes involved.

OMIM provides a wide range of information, including genetic testing options, associated clinical conditions, and relevant scientific references. The catalog includes a list of genes, their names, and their corresponding symbols. Users can search for specific genes or conditions, making it easier to find the information they need.

For example, the NKX2-1 gene, also known as the thyroid transcription factor 1 (TTF-1) gene, is listed in the OMIM catalog. This gene is associated with brain-lung-thyroid syndrome, a rare genetic disorder characterized by difficulty breathing and other neurological symptoms. The OMIM entry for NKX2-1 provides detailed information on the gene, including its structure, function, and associated clinical conditions.

In addition to the NKX2-1 gene, the OMIM catalog includes information on thousands of other genes and genetic diseases. Users can access information on protein changes, genetic testing options, and clinical symptoms associated with specific genes. OMIM also provides references and links to scientific articles and resources for further reading.

The catalog is organized in a user-friendly manner, with genes and associated diseases listed in alphabetical order. Users can navigate the catalog using the provided links and search functions. The information is constantly updated to reflect the latest scientific findings and discoveries in the field of genetics.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in genetic diseases and their associated genes. It provides a comprehensive overview of genetic conditions, testing options, and related scientific references. Whether you are a researcher, clinician, or individual seeking information on a specific genetic condition, OMIM is a valuable tool to have.

Gene and Variant Databases

There are several gene and variant databases that provide information on the NKX2-1 gene and its associated variants. These databases serve as a valuable resource for researchers and clinicians studying genetic conditions related to this gene.

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive registry of genes and genetic conditions. It provides information on the NKX2-1 gene, as well as other genes and conditions related to brain-lung-thyroid syndrome. OMIM includes links to additional scientific articles and resources for further reading.
• Szinnai Syndrome Gene: This database specifically focuses on the genetic changes associated with Szinnai syndrome, a condition caused by NKX2-1 gene mutations. It catalogues novel variants and provides information on genetic testing options and available tests for this syndrome.
• Genetic Testing Registry: The Genetic Testing Registry (GTR) is a database of genetic tests and the conditions they are intended to diagnose or predict. It includes information on genetic tests for NKX2-1 gene mutations and related conditions, along with the difficulty level of the tests and additional health information.
• PubMed: PubMed is a database of scientific articles and publications. It provides a wealth of information on the NKX2-1 gene and its role in various diseases and conditions, including breathing difficulties associated with mutations in this gene.
• HGVS (Human Genome Variation Society): HGVS is an international organization that aims to standardize the nomenclature for genetic variants. It provides guidelines for naming and classifying variants, ensuring consistency across gene and variant databases.

These databases offer a wealth of information on genes, diseases, variants, and proteins. They serve as valuable resources for researchers and clinicians studying the NKX2-1 gene and related conditions. The information listed in these databases is constantly updated and expanded, providing the latest research and findings in the field.

References

• OMIM: Online Mendelian Inheritance in Man. Search for “NKX2-1 gene”. Available at: https://omim.org
• PubMed: A database of scientific articles. Search for “NKX2-1 gene”. Available at: https://pubmed.ncbi.nlm.nih.gov
• Genetics Home Reference: Information about genetic conditions and genes. Visit the page on “NKX2-1 gene”. Available at: https://ghr.nlm.nih.gov
• NKX2-1 Syndrome Registry: A registry for individuals with NKX2-1 gene-related conditions. Access the registry for more information. Available at: https://www.nkx2-1registry.org
• NCBI Gene: A catalog of genes and their related information. Search for “NKX2-1 gene”. Available at: https://www.ncbi.nlm.nih.gov/gene
• NCBI OMIM: Information about genetic conditions and genes. Visit the page on “NKX2-1 gene”. Available at: https://www.ncbi.nlm.nih.gov/omim

Other relevant resources:

• NKX2-1 protein homologs and their role in brain-lung-thyroid development
• Novel genetic changes in the NKX2-1 gene associated with breathing difficulties
• The role of NKX2-1 gene in other conditions and diseases
• Testing for genetic changes in the NKX2-1 gene in individuals with related conditions
• Additional scientific articles on NKX2-1 gene and related genes