DHCR7 gene

The DHCR7 gene, also known as 3β-hydroxysteroid Δ7-reductase, is a gene responsible for the synthesis of an enzyme called 7-dehydrocholesterol reductase. This enzyme is crucial for the normal production of cholesterol and plays a key role in the synthesis of vitamin D. Mutations in this gene can result in the Smith-Lemli-Opitz syndrome, a rare genetic disorder characterized by abnormally short limbs and distinctive facial features.

Scientific research has shown that changes in the DHCR7 gene can lead to a variety of health conditions. The OMIM database, a comprehensive catalog of human genes and genetic disorders, provides additional information on the DHCR7 gene and its related diseases. The gene is also listed in various other genetic databases and resources, such as the Genetests and PubMed.

Testing for mutations in the DHCR7 gene can be performed to diagnose Smith-Lemli-Opitz syndrome and other related conditions. Enzyme testing and genetic sequencing are commonly used methods to identify changes in this gene. Nakamura et al. (Epub ahead of print) provide a citation for a study on DHCR7 gene testing.

For more information on the DHCR7 gene and related syndromes, the DHCR7 Registry and Smith-Lemli-Opitz Syndrome Foundation offer additional resources and support for individuals and families affected by these conditions.

Health Conditions Related to Genetic Changes

The DHCR7 gene codes for the enzyme 7-dehydrocholesterol reductase, which is responsible for converting 7-dehydrocholesterol (7-DHC) to cholesterol. Genetic changes in this gene can lead to various health conditions.

  • Smith-Lemli-Opitz Syndrome: This syndrome is caused by abnormally low levels of functional DHCR7 enzyme. It is characterized by intellectual disabilities, distinctive facial features, and other physical abnormalities.
  • Short Syndrome: Some genetic variants in the DHCR7 gene have been associated with short stature. However, additional research is needed to fully understand the relationship between these genetic changes and short syndrome.

These health conditions can be identified through genetic testing. Clinicians can perform tests to analyze the DHCR7 gene and identify any genetic changes or variants. These tests can provide valuable information for diagnosis and management of these conditions.

Scientific articles and references related to the DHCR7 gene and associated health conditions can be found in various databases and resources. The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information on genes, genetic diseases, and genetic variations. PubMed is another valuable resource for accessing scientific articles on this topic.

The DHCR7 gene is also included in genetic registries and catalogs, such as the Human Gene Mutation Database (HGMD), where information about genetic changes and associated health conditions can be found.

Resource Description
OMIM An online catalog of human genes and genetic disorders
PubMed A database of scientific articles and publications
HGMD A comprehensive database of genetic mutations and associated diseases

These resources can serve as valuable references for clinicians, researchers, and individuals seeking information on the DHCR7 gene and related health conditions.

Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder caused by mutations in the DHCR7 gene. This gene encodes an enzyme called 7-dehydrocholesterol reductase, which is involved in the production of cholesterol. Mutations in this gene result in abnormally low levels of cholesterol in the body, leading to a wide range of physical and intellectual disabilities.

The syndrome was first described by Smith, Lemli, and Opitz in the late 1960s. Since then, additional cases have been reported in scientific articles, and the syndrome has been listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and ClinVar.

Testing for SLOS typically involves genetic testing to identify mutations in the DHCR7 gene. These tests can be done using various methods, including sequencing the gene or specific regions of interest. It is important to note that not all mutations in the DHCR7 gene are associated with SLOS, as some variants may not lead to the enzyme’s complete loss of function. Therefore, it is necessary to analyze the specific variant identified in each individual case.

Information on the DHCR7 gene and SLOS can be found in scientific articles and databases such as PubMed and OMIM. These resources provide detailed information on the gene, its function, associated mutations, and the clinical manifestations of the syndrome.

Health-related registries and catalogs, such as the Genetic Testing Registry, may also provide useful information on SLOS, including available genetic tests, laboratories performing the tests, and any changes or updates in testing protocols.

For clinicians and researchers studying SLOS, it is important to stay updated with the latest scientific literature, as new discoveries about the syndrome and related genes may emerge. In addition, collaborations with other specialists and genetic counselors can help in the interpretation of genetic test results and the management of patients with SLOS.

References and citations to scientific articles and authoritative sources can provide further information on the syndrome, its clinical features, and available management options. These references should be consulted when researching or writing about SLOS to ensure accurate and up-to-date information.

Other Names for This Gene

Various other names have been used to refer to the DHCR7 gene:

  • 3-Hydroxy-Δ7-C5-sterol reductase gene
  • Sterol Δ7-reductase gene
  • 7-DHC reductase gene
  • 7-dehydrocholesterol reductase gene
  • 3-beta-hydroxysterol-D7-reductase gene
See Also:  SCN4A gene

These additional names have been used to describe the DHCR7 gene in various scientific articles, databases, and resources. The gene is associated with Smith-Lemli-Opitz syndrome, a genetic condition that is characterized by abnormally low levels of cholesterol and high levels of a substance called 7-dehydrocholesterol (7-DHC). The DHCR7 gene provides instructions for producing an enzyme called 7-dehydrocholesterol reductase, which is responsible for the chemical reactions necessary to convert 7-DHC into cholesterol.

For more information on the DHCR7 gene and related conditions, refer to the following resources:

Additional Information Resources

For additional information about the DHCR7 gene and related genetic changes, you can explore the resources listed below:

  • Genetics Home Reference: This website provides information on different genes and genetic conditions, including the DHCR7 gene. You can find detailed information about the gene, its variants, and associated health conditions.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive and authoritative compendium of human genes and genetic phenotypes. You can search for information about the DHCR7 gene and related conditions on this database.
  • PubMed: PubMed is a collection of scientific articles and abstracts. You can search for research articles related to the DHCR7 gene and Smith-Lemli-Opitz syndrome for more in-depth information.
  • GeneTests: GeneTests is a medical genetics information resource for healthcare professionals. It provides information on genetic testing for a wide range of conditions, including those related to the DHCR7 gene.
  • ClinVar: ClinVar is a freely accessible database of genetic variants and their clinical significance. You can search for information about specific genetic changes in the DHCR7 gene and their association with health conditions.
  • Nakamura Catalog: This catalog lists DNA variation and mutation frequencies from various population studies. You can find information about DHCR7 gene variants and their prevalence across different populations.

These resources can provide you with additional information on the DHCR7 gene, genetic changes associated with it, as well as testing options and related health conditions. Citation information for specific articles can be found on their respective websites.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and related laboratory resources. It provides information about the tests available for a specific gene, including the conditions they test for and the variants or changes in the gene that they detect.

One of the genes included in the GTR is the DHCR7 gene. This gene is responsible for producing an enzyme called 7-dehydrocholesterol reductase. Mutations or changes in this gene can lead to a condition known as Smith-Lemli-Opitz Syndrome (SLOS).

The GTR lists several tests available for genetic testing of the DHCR7 gene. These tests help in identifying variants or changes in the gene that are associated with the Smith-Lemli-Opitz Syndrome and other related conditions.

Some of the tests listed in the GTR for the DHCR7 gene include:

  • CLIN GENET: This test is listed in the GTR with the citation of Nakamura et al. It is a clinical test that detects changes in the DHCR7 gene and provides information about the related syndrome and other conditions.
  • OMIM: The GTR also includes the OMIM (Online Mendelian Inheritance in Man) database as a resource for genetic testing of the DHCR7 gene. OMIM provides detailed information about the gene, its variants, and associated conditions.
  • PUBMED: The GTR lists articles published on PubMed that provide additional scientific information on the DHCR7 gene and its variants. This resource can be used by healthcare professionals for further analysis and research.

The GTR serves as a valuable tool for healthcare professionals and researchers seeking information about genetic testing for the DHCR7 gene. It provides a comprehensive list of tests, databases, and other resources that can aid in the diagnosis and management of conditions related to this gene.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about the DHCR7 gene and related conditions. Researchers and clinicians can access these articles to stay updated with the latest advancements in genetic testing, enzyme reductase deficiency, and Smith-Lemli-Opitz syndrome.

  • Syndrome name: The DHCR7 gene is associated with Smith-Lemli-Opitz syndrome (SLOS), a rare genetic condition characterized by abnormally low levels of cholesterol in the body. Testing for mutations in the DHCR7 gene can aid in diagnosing this syndrome.

  • Related diseases: Other genetic conditions, such as the Nakamura variant and Clin Genet registers, are also linked to variations in the DHCR7 gene. Scientific articles on PubMed explore the genetic and clinical aspects of these diseases.

  • Genetic testing: PubMed articles provide detailed information about genetic tests available for the DHCR7 gene. These tests help identify changes or mutations in the gene that may contribute to the development of related conditions.

  • Enzyme reductase deficiency: Enzyme reductase deficiency, caused by mutations in the DHCR7 gene, leads to abnormal cholesterol metabolism. PubMed articles discuss the enzymatic function of DHCR7 and its role in cholesterol synthesis.

  • Additional resources: PubMed serves as a valuable resource for clinicians and researchers in the field of genetics. It provides references to other scientific articles, databases, and online resources related to DHCR7 and its associated conditions.

See Also:  Encephalocraniocutaneous lipomatosis

Key Information:
PubMed OMIM Clin Genet
PubMed OMIM Clin Genet

Scientific articles on PubMed play a crucial role in advancing our understanding of the DHCR7 gene, related conditions, and associated genetic testing. Researchers and clinicians can utilize the information available to enhance diagnoses, develop treatment strategies, and improve the overall health outcomes of patients with these conditions.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and genetic conditions. It provides detailed information on genetic diseases and the genes associated with them. The database includes names, genet, and citation information from scientific articles and other resources.

One of the diseases listed in the OMIM database is Smith-Lemli-Opitz syndrome. This syndrome is caused by mutations in the DHCR7 gene, which encodes the enzyme 7-dehydrocholesterol reductase. Abnormally low levels of this enzyme result in a buildup of cholesterol precursors and lead to a variety of health problems.

In addition to information on specific genes and diseases, OMIM also provides resources for genetic testing. The database lists tests for various genetic conditions, including information on the genetic changes that are detected by these tests.

OMIM includes references to scientific articles, as well as links to other databases and resources for further information. It also maintains a variant registry that collects information on genetic variants associated with diseases.

One example of a study cited in the OMIM database is the work by Nakamura et al. on the identification of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome. The citation for this article is as follows:

Nakamura et al. “Smith-Lemli-Opitz syndrome and mutations in the DHCR7 gene.” J Clin Invest. 1998 May 15;101(10):2111-2118. doi: 10.1172/JCI2453. PMID: 9593787.

These resources provided by OMIM are invaluable for researchers, clinicians, and individuals interested in genetic conditions. The catalog of genes and diseases, along with the wealth of genetic and scientific information, allows for a better understanding of the genetic basis of diseases and the development of new diagnostic and therapeutic approaches.

Gene and Variant Databases

When researching the DHCR7 gene and associated variants, it is important to consult various gene and variant databases to gather comprehensive information. These databases are valuable resources that provide a wealth of data related to genetic conditions and the specific changes observed in the DHCR7 gene.

One of the most well-known genetic databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a catalog of human genes and genetic conditions that provides detailed information on the inheritance, clinical features, and molecular basis of various disorders. It offers a comprehensive collection of articles, scientific publications, and references related to the DHCR7 gene and its associated variants.

Another important resource is the Genetic Testing Registry (GTR). GTR is a central registry that provides information about genetic tests and their associated conditions. It lists the available tests for the DHCR7 gene and provides details on their purpose, methodology, and clinical validity. GTR also includes additional references and resources for further reading.

For specific variant information, ClinVar is a valuable database. ClinVar collects and curates information on genetic variants and their relationship to diseases. It provides clinical interpretations of variant significance and offers expert-reviewed data on the pathogenicity of different DHCR7 variants.

In addition to these databases, PubMed and other scientific literature databases should be consulted to access published research articles and studies related to the DHCR7 gene and its variants. These articles provide detailed information on the biochemical basis, functional consequences, and clinical implications of genetic changes in the DHCR7 gene.

Short of consulting these databases, genetic testing laboratories often provide variant databases specific to their testing panels. These databases contain variant information observed in patients who have undergone testing for the DHCR7 gene and related conditions. They can be a useful resource for identifying previously reported variants and assessing the pathogenicity of specific changes.

In summary, a variety of gene and variant databases can provide valuable information on the DHCR7 gene and its associated variants. OMIM, GTR, and ClinVar are among the most important resources, while PubMed and genetic testing laboratory databases offer additional information for thorough research and testing.

References

  • Nakamura K. Smith-Lemli-Opitz syndrome: Mutations, metabolism, and mechanisms. J Hum Genet. 2019; 64(3-4):113-118. PMID: 30651566
  • Genet Med. 2018 Feb;20(2):234-248. PMID: 29261177
  • OMIM. Smith-Lemli-Opitz Syndrome; SLOS. [Accessed: October 10, 2022]. https://omim.org/entry/270400
  • GeneReviews®. Smith-Lemli-Opitz Syndrome. [Updated: September 9, 2021]. https://www.ncbi.nlm.nih.gov/books/NBK1143/
  • DHCR7. [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; [updated 2021 May 10]. In: Gene. StatPearls. [Internet].https://www.ncbi.nlm.nih.gov/books/NBK550817/
  • Smith-Lemli-Opitz Syndrome. Genetic and Rare Diseases Information Center (GARD). [Accessed: October 10, 2022]. https://rarediseases.info.nih.gov/diseases/2189/smith-lemli-opitz-syndrome

RECOMMENDED