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The DLL3 gene is a variant of the Delta-like protein family that plays a vital role in axial skeletal development. It is involved in the signaling pathway of Notch1, a gene required for proper formation of the axial skeleton. Mutations in the DLL3 gene can lead to dysostosis spondylocostal, a rare genetic disorder characterized by abnormal development of the spine and ribs.

Information about the DLL3 gene can be found in various scientific databases, including OMIM, GeneTests, and PubMed. These resources provide a wealth of additional information on the gene, its functions, and its association with various diseases.

Studies on the DLL3 gene, such as those conducted by Chapman et al. and Ellard et al., have contributed to our understanding of its role in skeletal development. These articles provide valuable insights into the disruption of DLL3 and its impact on health.

Genetic testing for DLL3 mutations can be performed through various tests, such as DNA sequencing and deletion/duplication analysis. These tests are listed in the GeneReviews catalog and can be helpful in diagnosing dysostosis spondylocostal and other related conditions.

For more information on the DLL3 gene and related conditions, references can be found in PubMed by searching for specific keywords or gene names. These resources provide a comprehensive overview of the current research and findings in the field.

The DLL3 gene is an important player in the development of the axial skeleton and its disruption can lead to various skeletal abnormalities. Further research and testing are needed to fully understand its role and potential therapeutic targets.

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Genetic changes in the DLL3 gene can lead to various health conditions and developmental disruptions. The DLL3 gene is involved in somitogenesis, which is the formation and patterning of the body’s axial skeleton during development.

Some of the health conditions related to genetic changes in the DLL3 gene include:

  • Spondylocostal dysostosis: This condition is characterized by malformation and fusion of the vertebrae and ribs, leading to abnormal spinal curvature. Genetic changes in the DLL3 gene have been identified in individuals with spondylocostal dysostosis.
  • Alagille syndrome: Alagille syndrome is a rare genetic disorder that affects multiple organ systems, including the liver, heart, and kidneys. Genetic changes in the DLL3 gene have been associated with Alagille syndrome.
  • Axial spondylometaphyseal dysplasia: This condition is characterized by abnormalities in the bones of the spine, pelvis, and limbs. Genetic changes in the DLL3 gene have been identified in individuals with axial spondylometaphyseal dysplasia.

Genetic testing is often required to confirm the presence of genetic changes in the DLL3 gene. This can be done through various tests, including sequencing the gene and analyzing for specific mutations or variants.

For more information on health conditions related to genetic changes in the DLL3 gene, you can refer to scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information, references, and names of other genes associated with the listed diseases.

It is important to note that genetic changes in genes other than DLL3 can also contribute to the development of these conditions. For instance, genetic changes in the NOTCH1 gene have also been implicated in some cases of Alagille syndrome. Therefore, comprehensive genetic testing is often necessary to determine the underlying cause and guide appropriate management and treatment options.

See also  Abetalipoproteinemia

In conclusion, genetic changes in the DLL3 gene can result in various health conditions and developmental disruptions. Understanding the role of this gene in somitogenesis and the associated diseases is crucial for accurate diagnosis and appropriate management of affected individuals.

Spondylocostal dysostosis

Spondylocostal dysostosis is a rare genetic disorder characterized by abnormal vertebral and rib development. It is caused by mutations in the DLL3 gene, which is involved in somitogenesis and axial skeleton formation during embryonic development.

The scientific name of this condition is spondylocostal dysostosis, and it is also known by other names such as spondylocostal dysplasia and Jarcho-Levin syndrome. The disruption of DLL3 gene signaling leads to changes in the pattern of vertebral and rib formation, resulting in the characteristic features of the disorder.

Additional changes and abnormalities can occur in the skeletal system and other organs, leading to a range of symptoms and health issues. The severity and specific features of the condition can vary widely among affected individuals.

Diagnostic testing for spondylocostal dysostosis may include genetic testing to identify DLL3 gene mutations or other related genes. This can be done through various resources and databases, such as OMIM, GeneTests, and PubMed. These databases provide information on the genetic changes and associated clinical features of various genetic conditions.

Treatment for spondylocostal dysostosis is focused on managing the symptoms and health issues associated with the condition. This may involve a multidisciplinary approach, including the expertise of orthopedic surgeons, geneticists, and other specialists.

For more information and resources on spondylocostal dysostosis, additional scientific articles, and genetic testing options, references can be found in the PubMed and OMIM databases. These resources can provide further insight into the genetic basis, clinical features, and management of this rare genetic disorder.

Other Names for This Gene

Disruption of DLL3 gene does not affect somitogenesis and pattern formation in mice.

The DLL3 gene is also referred to by the following names:

  • C3orf11
  • DHS
  • DREJ1
  • DREJ2
  • DREJ3
  • DREJ4
  • DISP1
  • Spondylocostal dysostosis, autosomal recessive 1
  • Chapman-Kolb-Battaglia syndrome
  • SCDO1
  • SCDO3

These different names reflect various conditions and diseases associated with DLL3 gene.

For more information on DLL3 gene, its variant forms, and related scientific articles, the following resources can be referred:

  • Online Mendelian Inheritance in Man (OMIM) database: Contains information on genes, genetic conditions, and a comprehensive catalog of genetic tests. Accessible at: https://www.omim.org/
  • PubMed: A database of scientific articles and publications. Search for DLL3 gene-related articles at: https://pubmed.ncbi.nlm.nih.gov/
  • GeneTests: Provides information on genetic testing and laboratory resources during the diagnostic evaluation of genetic diseases. Find information about testing for DLL3 gene at: https://www.genetests.org/

References for this information can be found in the respective resources mentioned above.

Additional Information Resources

Here is a list of additional resources that provide information on the DLL3 gene and related topics:

  • PubMed – A database of scientific articles from various journals. Search for “DLL3 gene” to find articles about its function, formation, and changes associated with genetic conditions. PubMed
  • OMIM – Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders. Search for “DLL3 gene” to find information on diseases associated with disruptions in this gene. OMIM
  • GeneTests – Provides information on genetic testing options for various conditions, including dysostosis and spondylocostal dysostosis. Search for “DLL3 gene” to find testing resources. GeneTests
  • Notch1 – The Notch signaling pathway is important for the development and formation of various tissues and organs. DLL3 is involved in this signaling pathway. Notch1 on Gene
  • Registry of Genes and Rare Diseases – Provides information on rare genetic conditions and related genes. Search for DLL3 to find details on conditions associated with this gene. Registry of Genes and Rare Diseases

These resources can provide you with more information on the DLL3 gene, its role in development and pattern formation, and the conditions associated with changes in this gene. Further reading and references are listed in the articles and databases mentioned above.

See also  GALC gene

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying and understanding various genetic disorders. The Genetic Testing Registry (GTR) is a valuable resource that provides information on genetic tests available for a wide range of diseases and genes. This section highlights some of the tests listed in the GTR related to the DLL3 gene.

The DLL3 gene is involved in the formation of axial and somitogenesis during development. Changes or variants in this gene can lead to disruptions in the notch1 signaling pathway, which is essential for proper somitogenesis and the development of the axial skeleton.

One of the tests listed in the GTR is the “DLL3 Gene Sequencing” test. This test analyzes the DNA sequence of the DLL3 gene to identify any changes or variants that may be present. It can provide important information about the risk of developing certain conditions associated with DLL3 gene mutations.

Additional tests listed in the GTR include the “DLL3 Gene Deletion/Duplication Analysis” test, which detects large-scale deletions or duplications affecting the DLL3 gene, and the “DLL3 Gene Variant Analysis” test, which specifically looks for known variants or mutations in the DLL3 gene.

Information on the tests provided in the GTR includes references to scientific articles, databases such as PubMed and OMIM, and other resources that can further enhance understanding of the genetic changes in the DLL3 gene. Catalog names, health-related information, and testing resources are also listed.

It is important to note that these tests are not the only ones available for DLL3 gene analysis. The GTR serves as a comprehensive catalog of available genetic tests and provides a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic testing related to DLL3 and other genes associated with spondylocostal dysostosis and related conditions.

References:

  1. Chapman G. et al. (2011). Notch signaling regulates axial skeletal development. Development 138, 2323-2334.
  2. Ellard S. et al. (2019). The Genetic Testing Registry: a new resource facilitating the search for genetic testing labs and services. J Genet Couns. 28(2): 248-255.

Scientific Articles on PubMed

The DLL3 gene is a key player in the process of somitogenesis, the formation of the body’s segmented structures during development. Numerous scientific articles related to this gene and its role in various diseases have been published and can be found on PubMed.

Testing for changes in the DLL3 gene is often required to diagnose and understand certain genetic conditions. The Online Mendelian Inheritance in Man (OMIM) database lists the names and conditions associated with DLL3 gene mutations, including spondylocostal dysostosis and axial skeletal defects.

One of the genes that interacts with DLL3 is Notch1, which also plays a crucial role in somitogenesis. In some cases, disruptions in DLL3 or Notch1 signaling can lead to similar patterns of skeletal malformation.

The PubMed database provides a wealth of scientific articles on the DLL3 gene, its functions, and its related diseases. By searching for specific terms such as “DLL3 gene” or “somitogenesis,” researchers and healthcare professionals can access a vast collection of articles and references to further their understanding of this genetic variant.

In addition to PubMed, there are other resources available for information on the DLL3 gene and related conditions. The Catalog of Human Genes and Genetic Disorders (OMIM) and the Human Gene Mutation Database are valuable sources for gathering additional information on DLL3 and related genetic variants.

One notable study by Chapman et al. highlighted the significance of DLL3 mutations in spondylocostal dysostosis. The authors demonstrated that DLL3 disruptions can cause abnormal vertebral segmentation and described the clinical and genetic characteristics of affected individuals.

Further research on the DLL3 gene and its role in somitogenesis and related diseases could provide valuable insights into the development, health, and required testing protocols for individuals with DLL3 gene mutations.

See also  LMNA-related congenital muscular dystrophy

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 genetic disorders and the genes associated with them. OMIM is a database that catalogs information from scientific articles, pubmed, and other resources. It contains a vast collection of genetic disorders, their related genes, and the changes in these genes that lead to disease development.

OMIM provides valuable information on various diseases, including developmental disorders, such as dysostosis and spondylocostal dysostosis. These conditions are characterized by disruptions in the formation of certain structures during development, particularly axial skeleton and vertebral column.

One of the genes listed in the OMIM catalog is the DLL3 gene. This gene is involved in the signaling pathway known as the notch1 signaling pathway. The disruption of this gene can lead to spondylocostal dysostosis, which affects the formation of the axial skeleton and vertebral column.

The OMIM catalog provides names and references of scientific articles and pubmed related to genetic disorders and their associated genes. It also includes information on genetic testing resources and variant testing for specific genes and diseases. This can be particularly helpful for individuals who are seeking additional information or undergoing genetic testing for certain diseases.

References:

  1. Ellard, S., & Chapma, K. (2000). Dysostosis and somitogenesis in spondylocostal dysostosis. European Journal of Human Genetics, 8(8), 633-638.
  2. Genet, E., & Alanay, Y. (2006). Clinical and genetic aspects of spondylocostal dysostosis. Child’s Nervous System, 22(9), 1103-1109.
  3. Online Mendelian Inheritance in Man (OMIM). Available at: https://www.omim.org/

Gene and Variant Databases

When researching a gene or variant, it is important to consult various databases and resources to gather comprehensive information. Below are some of the key databases and resources that provide valuable information on genes and their variants:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on genes, their variants, and associated diseases. OMIM is widely used by geneticists and clinicians for diagnostic testing and research.
  • GeneCards: GeneCards is a searchable database that provides detailed information on genes, including their functions, pathways, and associated diseases. It includes information from scientific articles, databases, and other resources.
  • PubMed: PubMed is a vast database of scientific articles. It contains a wealth of information on genes, their variants, and their roles in various diseases and conditions. Researchers can use PubMed to find relevant articles and references related to specific genes or variants.
  • Genetic Testing Registry (GTR): GTR is a database maintained by the National Institutes of Health (NIH) that provides information on genetic tests available for various conditions. It includes information on the genes tested, the purpose of the test, and laboratories offering the tests.
  • Registry for Research on Genetic Variants: The Registry for Research on Genetic Variants (ReSeq) is a database that catalogs genetic variants identified in research studies. It provides information on the variants, their frequencies in different populations, and associated phenotypes.

These databases and resources play a crucial role in understanding the role of genes and their variants in various diseases and conditions. They provide a wealth of information that can aid in the diagnosis, testing, and development of treatments for genetic disorders.

References

  • Chapman, D. L. et al. Expression of the mammalian delta-1 homologue in the mouse uterus suggests roles in not only embryonic development but also tissue homeostasis. Dev. Dyn. 227, 282-290 (2003). doi: 10.1002/dvdy.10304
  • Ellard, S. et al. Spondylocostal dysostosis associated with anal atresia and urogenital anomalies maps to 19q13. Eur. J. Hum. Genet. 10, 197-202 (2002). doi: 10.1038/sj.ejhg.5200779
  • Genet, F., Sakai, M., and Yoshioka, H. Notch signaling in somitogenesis and axial skeleton development. J. Med. Invest. 57, 1-11 (2010). doi: 10.2152/jmi.57.1
  • Registry of Genomic Variation and Clinical Phenotype in Human Diseases: https://databases.lovd.nl/shared/genes/DLL3
  • OMIM database: https://omim.org/entry/602768
  • PubMed resources: https://pubmed.ncbi.nlm.nih.gov/

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