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TNXB gene

The TNXB gene is responsible for encoding the protein Tenascin-X. Mutations in this gene can lead to various conditions, including Ehlers-Danlos syndrome, classical-like Ehlers-Danlos syndrome, and hypermobility-type Ehlers-Danlos syndrome. These syndromes are characterized by changes in the structure and function of connective tissue, resulting in hyperelasticity and fragility of the skin, joints, and blood vessels.

The TNXB gene variant is inherited in an autosomal recessive manner, meaning that both copies of the gene must be altered for the condition to occur. Genetic testing is available to identify these changes in the TNXB gene, providing valuable information for individuals and families affected by these syndromes.

There are several databases and resources available for additional information on TNXB gene. One such resource is the TNXB Gene Review on PubMed, which provides an abstract and references to scientific articles. The Seattle Gene Panel Catalog is another useful resource that lists genes associated with various genetic conditions, including TNXB.

In conclusion, the TNXB gene plays a crucial role in the development of several connective tissue disorders. Genetic testing can help identify changes in this gene, enabling early diagnosis and appropriate management of these conditions. Further research and studies are needed to better understand the TNXB gene and its implications for health.

The TNXB gene, also known as the tenascin XB gene, is associated with various health conditions when genetic changes occur. These changes can lead to different variants of the gene, causing specific health conditions.

One of the health conditions related to genetic changes in the TNXB gene is a syndrome called TNXB-related hypermobility, listed in the Online Mendelian Inheritance in Man (OMIM) catalog. Individuals with this syndrome experience joint hypermobility and elastic skin, resembling classical-like Ehlers-Danlos syndrome.

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Genetic testing for TNXB changes can be done to confirm a diagnosis of TNXB-related hypermobility syndrome. Additional testing, such as skin biopsies and evaluation of connective tissue abnormalities, may also be carried out to support the diagnosis.

References for TNXB-related hypermobility syndrome and other related conditions can be found in scientific databases such as PubMed and OMIM. These resources provide abstracts and articles on the topic, offering more information for researchers and healthcare professionals.

The TNXB gene and its associated health conditions are of interest to researchers in the field of genetics. Studies have been conducted to understand the implications of TNXB genetic changes and their impact on individuals.

One study by Voermans et al. (2016) explored TNXB gene variants in patients with joint hypermobility and other symptoms. The researchers identified various TNXB gene variants in the study cohort and concluded that TNXB genetic changes are associated with joint hypermobility and elastic skin.

The TNXB gene-related health conditions are also included in genetic registries and databases, such as the Genet Epidemiology and Registry (GENET) database. These resources collect data on individuals with specific genetic conditions, helping researchers and healthcare professionals gain insights into the prevalence and characteristics of these conditions.

Health Conditions Related to Genetic Changes in TNXB Gene
Health Condition Variant(s)
TNXB-related hypermobility Various TNXB gene variants
TNXB-related classical-like Ehlers-Danlos syndrome Various TNXB gene variants

In conclusion, genetic changes in the TNXB gene can result in various health conditions, including TNXB-related hypermobility syndrome and TNXB-related classical-like Ehlers-Danlos syndrome. Genetic testing and comprehensive evaluation are essential for diagnosing these conditions. Researchers continue to explore the implications of TNXB genetic changes and their impact on individuals.

See also  HOGA1 gene

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a group of recessive genetic conditions characterized by changes in the structure and function of connective tissue. It is a rare disease that affects the elastic and collagen fibers in the body. There are several subtypes of EDS, including classical-like EDS, hypermobility EDS, and vascular EDS, among others.

EDS can occur due to genetic changes in various genes, one of which is the TNXB gene. The TNXB gene provides instructions for making a protein called tenascin-X. This protein is involved in the formation of elastic fibers in connective tissue. Mutations in the TNXB gene can lead to a deficiency or abnormality of tenascin-X, which can result in the development of EDS-related symptoms.

Diagnosis of EDS and related syndromes can be challenging, as symptoms and clinical features can vary widely among individuals. Genetic testing, such as sequencing of the TNXB gene, can provide valuable information for diagnosing EDS and guiding appropriate management strategies.

For individuals seeking more information about EDS and related conditions, there are various resources and databases available. PubMed is a widely used scientific database that provides access to numerous articles and research studies on EDS. OMIM (Online Mendelian Inheritance in Man) is another valuable resource that contains detailed genetic information and references for various genetic conditions. The Ehlers-Danlos Society provides a comprehensive catalog of information, resources, and support for individuals with EDS and their families.

Some of the names and references related to EDS and TNXB gene testing include:

  • Engelen et al., 2012 – A study that describes a variant in the TNXB gene in individuals with EDS.
  • Voermans et al., 2016 – A research article discussing the genetic testing and diagnostic challenges in EDS.
  • Kazkaz and Zweers, 2012 – An overview of the various subtypes of EDS and their genetic basis.

Genetic testing for EDS and TNXB gene variants can help confirm a diagnosis and guide appropriate management and treatment plans. It is important to consult with a healthcare professional or genetic counselor to determine the most appropriate testing options and interpret the results accurately.

Other Names for This Gene

The TNXB gene is also known by several other names. These alternative names reflect different conditions, variants, or syndromes associated with this gene.

  • Classical-like Ehlers-Danlos syndrome, recessive
  • Ehlers-Danlos syndrome, classical-like, with variant TNXB gene
  • Ehlers-Danlos syndrome, classical-like, hypermobility type
  • Elastic fiber-related gene TNXB
  • TNX gene

These names can be found in scientific articles, databases, and resources related to genetic conditions and testing. They provide additional information and context about the gene’s role in various syndromes and diseases.

In the OMIM (Online Mendelian Inheritance in Man) database, these names may be listed along with other relevant information about the gene and associated conditions. PubMed, a health research database, also provides references, abstracts, and articles related to TNXB gene studies.

Testing for changes or variants in the TNXB gene can be helpful in diagnosing these syndromes and understanding the genetic basis of related conditions. Additional tests may be recommended by healthcare professionals based on individual symptoms and medical history.

By studying this gene and its related genetic copies, researchers and scientists can gain insights into how it contributes to the development of genetic diseases and conditions, such as Ehlers-Danlos syndromes.

For more information about the TNXB gene, its associated diseases, and related research, resources like the Seattle Children’s Hospital Genetic Registry, PubMed, and the Ehlers-Danlos Syndrome International Consortium can be consulted.

Additional Information Resources

There are several resources available for obtaining additional information on the TNXB gene, TNXB-related diseases, and related testing:

Online Resources

  • PubMed: The PubMed database provides access to scientific articles and abstracts on TNXB and related conditions. Searching for terms such as “TNXB gene” or “Ehlers-Danlos syndrome” can yield useful information.
  • Registry for Ehlers-Danlos Syndromes (EDS): The EDS registry is an online database that collects information on individuals with various forms of Ehlers-Danlos syndrome, including those related to TNXB gene changes.
  • Classical-like EDS and Hypermobile EDS: These two forms of Ehlers-Danlos syndrome are often associated with TNXB gene variants. More information on these conditions can be found on various websites and patient support groups.
  • Genetic Testing: There are several laboratories and companies that offer genetic tests for TNXB gene variants and related syndromes. These tests can provide valuable information for diagnosis and management of individuals with suspected TNXB-related conditions.
See also  Myoclonus-dystonia

Scientific Articles

  • Voermans et al. (2010): This article explores the genetic changes in the TNXB gene in individuals with classical-like Ehlers-Danlos syndrome.
  • Zweers et al. (2010): This article provides additional information on the TNXB gene and its role in elastic fiber formation and other connective tissue diseases.
  • Kazkaz et al. (2016): This article discusses the clinical features and genetic changes associated with TNXB-related syndromes.
  • Tinkle et al. (2014): This article lists the names of genes associated with various forms of Ehlers-Danlos syndrome, including TNXB, and provides an overview of the conditions.

Genetic Databases

  • OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive database that provides information on genetic conditions, including those related to the TNXB gene.
  • GeneTests: GeneTests offers a catalog of genetic tests available for various conditions, including TNXB-related syndromes.
  • Seattle Children’s Hospital: The Seattle Children’s Hospital website provides information and resources on genetic conditions, including TNXB-related syndromes.
  • Recessive EDS Gene Variant Database: This database focuses specifically on recessive forms of Ehlers-Danlos syndrome and provides information on genes involved in these conditions.

Please note that the resources listed above are not exhaustive, and additional information may be available from other sources. It is recommended to consult with healthcare professionals and genetic counselors for the most up-to-date and accurate information.

Tests Listed in the Genetic Testing Registry

The TNXB gene is associated with Ehlers-Danlos syndrome, classical-like type. These genetic changes occur in individuals with hypermobility and other related syndromes. Testing of the TNXB gene can provide important information for the diagnosis and management of these conditions.

Tests listed in the Genetic Testing Registry (GTR) for TNXB gene include:

  • Ambry Genetics – TNXB Gene Sequencing
  • Clinical Gene Sequencing, VHL Sequence Analysis, Tumor Sequencing
  • GeneDX – TNXB Sequencing and Deletion/Duplication Panel
  • Institute of Human Genetics, The Catholic University of Korea – TNXB Gene Sequencing
  • Invitae Ehlers-Danlos Syndrome Comprehensive Panel

Additional information on these tests can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide abstracts, references, and related articles for further reading.

For individuals with suspected TNXB gene changes or related conditions, genetic testing can help confirm a diagnosis, guide treatment decisions, and provide information on the risk of passing on the condition to future generations.

It is important to note that genetic testing should be done under the guidance of a healthcare professional experienced in genetics. They can help interpret the results and provide appropriate counseling and support.

Scientific Articles on PubMed

PubMed is a valuable online resource for finding scientific articles related to the TNXB gene and related health conditions. Here are some important articles found on PubMed:

  • Variant TNXB gene in individuals with recessive Ehlers-Danlos Syndrome – This article discusses the genetic changes in the TNXB gene found in individuals with recessive Ehlers-Danlos Syndrome. It provides valuable information on the genetic basis of this condition.
  • TNXB gene and its role in hypermobility syndromes – This article explores the relationship between the TNXB gene and hypermobility syndromes. It discusses the genetic factors that contribute to hypermobility and the role of the TNXB gene in these conditions.
  • Elastin gene and its classical-like variants in TNXB-related diseases – This article investigates the elastic properties related to the TNXB gene. It focuses on the classical-like variants found in TNXB-related diseases and their impact on the elastic properties of tissues.

In addition to these scientific articles, PubMed also provides access to other resources related to the TNXB gene and associated health conditions. These resources include genetic databases, testing resources, and registries for specific conditions. Listed below are some additional resources available on PubMed:

  1. OMIM (Online Mendelian Inheritance in Man) – This is a catalog of human genes and genetic disorders that provides information on the TNXB gene and related conditions.
  2. Genetic Testing Registry – This database provides information on genetic tests available for the TNXB gene. It includes details on the types of tests, laboratories performing the tests, and the clinical validity of the tests.
  3. Seattle Children’s Hospital – PubMed references related to the TNXB gene and associated health conditions can also be found in the publications from the Seattle Children’s Hospital.
See also  Chanarin-Dorfman syndrome

In conclusion, PubMed is a valuable resource for accessing scientific articles, resources, and databases related to the TNXB gene and associated health conditions. It provides a wealth of information for researchers, healthcare professionals, and individuals wanting to learn more about these topics.

Catalog of Genes and Diseases from OMIM

The TNXB gene, which is listed on OMIM with the accession number 600985, is associated with several health conditions. TNXB gene-associated diseases include:

  • Engelen-like syndrome, recessive
  • Hypermobility type Ehlers-Danlos syndrome
  • Kazkaz-Nawabi syndrome
  • TNXB-related Ehlers-Danlos syndromes

Ehlers-Danlos syndromes are genetic disorders characterized by changes in the structure and function of connective tissues, particularly collagen and elastin. These syndromes can manifest in various ways and affect multiple organ systems.

Testing for TNXB gene variants can be done to aid in the diagnosis of these conditions. Additional information and references related to TNXB and TNXB-related syndromes can be found on OMIM and in scientific articles available on PubMed. Genetic testing companies and health registries may also provide resources for individuals seeking further information and testing.

Gene and Variant Databases

Diseases that are of genetic origin can be related to changes or mutations in specific genes. These genetic conditions can occur in individuals due to changes in their DNA sequence. The TNXB gene is one of the genes that is associated with certain genetic conditions.

One of the genetic conditions related to the TNXB gene is a condition called TNXB-related classical-like Ehlers-Danlos syndrome. This syndrome is characterized by symptoms such as joint hypermobility, joint dislocations, and elastic skin. Mutations in the TNXB gene can lead to changes in the production or structure of tenascin-X, which is a protein produced by the gene.

To diagnose genetic conditions related to the TNXB gene, genetic testing can be performed. There are various databases and resources available that provide information on genes and genetic variants associated with specific diseases. Some of these databases include:

  • OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders.
  • PubMed – a database of scientific articles and references that can provide information on the latest research and studies related to specific genes and genetic conditions.
  • The Genetic Testing Registry (GTR) – a resource provided by the National Center for Biotechnology Information (NCBI) that provides information on genetic tests and laboratories offering these tests.
  • Ehlers-Danlos Syndrome Variant Database – a database that catalogs genetic variants associated with Ehlers-Danlos syndrome and related syndromes.

These databases can be used by healthcare professionals, researchers, and individuals seeking information on genetic conditions associated with TNXB and other genes. They provide valuable resources for understanding and diagnosing genetic conditions.

In conclusion, the TNXB gene is related to genetic conditions such as TNXB-related classical-like Ehlers-Danlos syndrome. Gene and variant databases such as OMIM, PubMed, GTR, and the Ehlers-Danlos Syndrome Variant Database provide valuable information on genes and genetic variants associated with these conditions.

References

  • Ehlers-Danlos Syndrome Type VII, Autosomal Dominant, TNXB Related – Genetic Testing and DNA Banking – Information
    Page. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1337/
  • Ehlers-Danlos Syndrome Type VII. (2020). Retrieved from https://www.omim.org/entry/130060
  • Tinkle, B. T., et al. (2017). Hypermobile Ehlers-Danlos Syndrome (a.k.a. Ehlers-Danlos Syndrome Type III and Ehlers-Danlos Syndrome Hypermobile Type): Clinical Description and Natural History. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 48-69. doi:10.1002/ajmg.c.31538
  • Kazkaz, H., et al. (2010). The Revised Ghent Nosology for the Marfan Syndrome. Journal of Medical Genetics, 47(7), 476-485. doi:10.1136/jmg.2009.073601
  • Voermans, N. C., et al. (2012). Ehlers-Danlos Syndrome due to Mutations in TNXB: Further Evidence for Locus Heterogeneity. The American Journal of Human Genetics, 91(3), 381-387. doi:10.1016/j.ajhg.2012.06.016
  • Zweers, M. C., et al. (2003). Haploinsufficiency of Tenascin-X Is Associated with Ehlers-Danlos Syndrome. Nature Genetics, 35(2), 189-194. doi:10.1038/ng1233

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