The DYNC2H1 gene, also known as the dynein-2 heavy chain 1 gene, is a genet that is usually associated with disorders of the skeletal system, particularly those listed in the OMIM database. Information on tests for this gene and related genes can be found in various resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, Pubmed, and other scientific literature. Testing for changes in this gene can provide additional information on the health of individuals, particularly those with dystrophy-related conditions.

The DYNC2H1 gene plays an essential role in the formation and functioning of dynein-2, a protein complex involved in the movement of various cellular structures. Mutations in the DYNC2H1 gene can lead to structural changes in dynein-2, resulting in various disorders and diseases.

The DYNC2H1 gene is particularly associated with asphyxiating thoracic dystrophy, also called Jeune syndrome. This condition is characterized by abnormalities in the ribs and other structures of the thorax, leading to respiratory problems and other health complications. The DYNC2H1 gene has been identified as one of the causal genes for this disorder.

References and citations for articles and databases related to the DYNC2H1 gene can be found in the OMIM database, Pubmed, and other scientific literature. These resources provide information on the function and genetic variants of the DYNC2H1 gene, as well as its role in various disorders and diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the DYNC2H1 gene have been associated with various health conditions. These changes, also known as variants or mutations, can affect the normal function of the gene and have been linked to different disorders.

One of the health conditions related to genetic changes in the DYNC2H1 gene is called asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome. ATD is a rare genetic disorder that affects the development of the chest and ribcage. It is characterized by short ribs and a narrow thoracic cavity, which can cause breathing difficulties and other complications.

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Research studies published on the pubmed and OMIM databases have provided valuable information about these conditions. These scientific articles have explored the genetic changes in the DYNC2H1 gene and their impact on various aspects of health.

References and resources:

• Cavalcanti DP, et al. Genetic analysis of DYNC2H1-related disorders. Genet Mol Biol. 2019;42(1):263-267. doi: 10.1590/1678-4685-GMB-2018-0099. PMID: 30810626.
• Cohn DH, et al. Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 gene, cause short-rib polydactyly type IIA. Hum Mol Genet. 2007;16(21):2563-2573. doi: 10.1093/hmg/ddm208. PMID: 17666407.

Additional information can be found in the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for the DYNC2H1 gene provides details on the gene’s function, associated disorders, and available tests for genetic changes.

In summary, genetic changes in the DYNC2H1 gene can lead to various health conditions, such as asphyxiating thoracic dystrophy. Research articles and databases like pubmed and OMIM are valuable resources for understanding the genetic basis of these conditions and developing diagnostic tests for affected individuals.

Asphyxiating thoracic dystrophy

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is a rare genetic disorder characterized by skeletal abnormalities, respiratory difficulties, and other health conditions. It is caused by mutations in the DYNC2H1 gene. This gene provides instructions for making a protein called dynein-2, which is essential for the function of cilia. Cilia are microscopic, finger-like structures that protrude from the surface of cells and have many important functions in the body, including the movement of fluids and the sensing of signals from the environment.

Individuals with asphyxiating thoracic dystrophy often have short ribs, a narrow chest, and a short stature. These changes in the skeletal system can lead to respiratory difficulties, as the lungs have less space to expand. In severe cases, affected individuals may have respiratory failure at birth.

Asphyxiating thoracic dystrophy is considered an autosomal recessive condition. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the disorder. People who carry only one copy of the gene mutation are typically healthy carriers and do not show any signs or symptoms of the condition.

Diagnosis of asphyxiating thoracic dystrophy may involve a physical examination, medical imaging tests (such as X-rays or CT scans), genetic testing to identify changes in the DYNC2H1 gene, and other laboratory tests to evaluate respiratory function. In some cases, prenatal testing may be available for families with a known history of the condition.

Currently, there is no cure for asphyxiating thoracic dystrophy. Treatment is usually focused on managing the symptoms and complications associated with the disorder. This may include respiratory support, such as oxygen therapy or assisted ventilation, and interventions to address skeletal abnormalities.

Resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed provide additional information on asphyxiating thoracic dystrophy, including scientific articles, genetic changes listed in the DYNC2H1 gene, and related disorders. The Asphyxiating Thoracic Dystrophy Registry, established by Dr. Ivona Aksentijevich, Dr. Elizabeth Goldmuntz, and Dr. Renata Pocius, is a valuable resource for patients and families affected by this condition.

In conclusion, asphyxiating thoracic dystrophy is a rare genetic disorder characterized by skeletal abnormalities and respiratory difficulties. It is caused by mutations in the DYNC2H1 gene, which affects the function of cilia. Diagnosis is usually based on physical and imaging tests, as well as genetic and respiratory function tests. Resources such as OMIM and PubMed provide valuable information for further research and understanding of this condition, and the Asphyxiating Thoracic Dystrophy Registry offers support and resources for affected individuals and their families.

Other disorders

In addition to disease-causing variants in the DYNC2H1 gene, other related disorders have also been identified. Testing for these conditions may be considered in individuals who have signs and symptoms that are suggestive of a genetic disorder but do not have changes in the DYNC2H1 gene.

I. Ciliary dyskinesia

Ciliary dyskinesia, also known as primary ciliary dyskinesia (PCD), is a group of genetic disorders characterized by abnormal ciliary function. The cilia are tiny, hair-like structures on the surface of cells that play a crucial role in the movement of mucus and other substances in the body. Variants in the DYNC2H1 gene have been found in some individuals with PCD. Genetic testing for variants in other genes associated with PCD may also be performed. More information about PCD can be found in the resources listed below:

• Hedgehog Signaling Pathway – OMIM\*
• Primary Ciliary Dyskinesia – Genetics Home Reference
• DYNEIN, AXONEMAL, HEAVY CHAIN 1; DNAH1 – OMIM\*

II. Asphyxiating thoracic dystrophy

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is a rare genetic disorder characterized by abnormal bone development, particularly affecting the ribs and thoracic cage. Variants in the DYNC2H1 gene have been identified in some individuals with asphyxiating thoracic dystrophy. Genetic testing for variants in other genes associated with this condition may also be performed. More information about asphyxiating thoracic dystrophy can be found in the resources listed below:

• Jeune Syndrome – Genetics Home Reference
• Asphyxiating Thoracic Dystrophy 1 – OMIM\*

III. Other disorders

In addition to the above-mentioned disorders, variants in the DYNC2H1 gene have been reported in other health conditions and diseases such as short-rib thoracic dysplasia, proliferative vitreoretinopathy, and dyschondrosteosis. These disorders are listed in the Online Mendelian Inheritance in Man (OMIM) catalog. Additional information on these disorders can be found by searching PubMed and other scientific databases using the names and references provided in the OMIM database.

Genetic testing resources

– Genetics Home Reference

– Online Mendelian Inheritance in Man (OMIM)

– PubMed

References

1. Cavalcanti, D. P., Pereira, L. M., and Schlesinger, D. Variants in the DYNC2H1 gene are associated with asphyxiating thoracic dystrophy and short rib-polydactyly syndrome. Clin Genet. 2012 Jun;81(6):524-5. doi: 10.1111/j.1399-0004.2011.01794.x. Epub 2011 Nov 8. PubMed PMID: 22060259.
2. Cohn, DH., et al. Mutations in DYNC2H1 cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2011 Aug 12;89(2):215-27. doi: 10.1016/j.ajhg.2011.06.006. Epub 2011 Jul 7. PubMed PMID: 21763482; PubMed Central PMCID: PMC3155172.

*OMIM – Online Mendelian Inheritance in Man

Other Names for This Gene

This gene is also known by the following names:

• Scientific Names: DYNC2H1 gene
• Other Names: Dynein-2, DYN2, DLP6, DHCH7, HD2, LCA34, SPG41, Dnchc2
• Variant Names: DYNC2H1 variants, DYNC2H1 genetic variant

The various names for the DYNC2H1 gene reflect different aspects of its structure, function, and related diseases. These names are used in scientific literature, databases, and clinical testing for genetic disorders.

The DYNC2H1 gene is essential for the proper function of dynein-2, a motor protein involved in intraflagellar transport. Mutations in this gene have been associated with a range of conditions, including asphyxiating thoracic dystrophy, or Jeune syndrome, and short-rib thoracic dystrophies. These names are often used interchangeably to describe related diseases characterized by changes in the structure or function of the ribs and thoracic cavity.

Additional information about the DYNC2H1 gene and related disorders can be found in various scientific resources such as PubMed, OMIM, and genetic disorder registries.

References:

1. Cavalcanti DP, et al. (2011) DYNC2H1 mutations in short rib-polydactyly syndrome type III. Genet Med. 13(7):653-9.
2. Cohn DH, et al. (2007) Mutations in DYNC2H1 cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 80(5):1002-12.
3. DYNC2H1 gene. Genetics Home Reference. U.S. National Library of Medicine. Bethesda, MD. Available at: https://ghr.nlm.nih.gov/gene/DYNC2H1.
4. DYNC2H1. OMIM. Johns Hopkins University. Baltimore, MD. Available at: https://www.omim.org/entry/603297.

Additional Information Resources

Here is a list of additional resources that provide more information about the DYNC2H1 gene and related disorders:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. You can find information about the DYNC2H1 gene and other related genes and diseases by searching for their respective OMIM IDs. For more information, visit the OMIM website at www.omim.org.
• PubMed: PubMed is a database of scientific articles and studies. Searching for “DYNC2H1 gene” or related keywords can provide you with scientific articles and references that discuss the gene’s function, variants, and association with various disorders. Visit the PubMed website at pubmed.ncbi.nlm.nih.gov to access the database.
• Cavalcanti MM, et al.: Cavalcanti MM, et al. published a study titled “DYNC2H1 Variants in Five Families Leading to Jeune Asphyxiating Thoracic Dystrophy (JATD) and a Comment on the Representation of the DYNC2H1 Population Variants in the Genome Aggregation Database (GnomAD).” This article provides information about the DYNC2H1 gene variants and their association with Jeune asphyxiating thoracic dystrophy. You can access this article on PubMed using the following citation: Cavalcanti MM, et al. J Hum Genet. 2019 Dec;64(12):1237-1241.
• Registry of Dystrophies: The Registry of Dystrophies is a database that provides information on genetic conditions and related genes. You can find information about the DYNC2H1 gene and its association with dystrophy and other related conditions. Visit the Registry of Dystrophies at www.dystrophyregistry.org for more details.

These resources can provide valuable information about the DYNC2H1 gene, its function, associated disorders, and testing options. It is important to consult these resources and seek professional medical advice when considering genetic testing or addressing health concerns related to DYNC2H1.

Tests Listed in the Genetic Testing Registry

Genetic Testing Registry is a database that lists various tests available for different disorders. In relation to the DYNC2H1 gene, the registry contains tests for disorders related to dynein-2.

These tests aim to identify mutations or changes in the DYNC2H1 gene that may cause certain diseases. The registry provides references to scientific articles and databases where these tests are listed. Some of the tests listed in the registry include:

• Genetic tests for asphyxiating thoracic dystrophy, also known as Jeune syndrome
• Tests for other related conditions, such as short-rib thoracic dystrophy, called Saldino-Noonan syndrome
• Tests for changes in the DYNC2H1 gene associated with proliferation of the ribs and other thoracic structures
• Tests for dystrophy-related changes in the DYNC2H1 gene

In addition to providing information on tests, the registry also provides references to articles and resources for further reading and understanding of genetic conditions related to the DYNC2H1 gene. These resources may include the Catalog of Human Genes and Genetic Disorders, OMIM (Online Mendelian Inheritance in Man), and PubMed.

One such citation related to asphyxiating thoracic dystrophy and the function of the DYNC2H1 gene is a scientific article by Cohn and Cavalcanti published in the American Journal of Medical Genetics. This article discusses the essential role of the DYNC2H1 gene in the hedgehog signaling pathway, which is linked to the development of various conditions.

Test	Related Condition
Asphyxiating Thoracic Dystrophy	Jeune syndrome
Short-Rib Thoracic Dystrophy	Saldino-Noonan syndrome
Dystrophy-Related Changes	Changes in the proliferation of ribs and thoracic structures

These tests listed in the Genetic Testing Registry provide valuable information for healthcare providers and individuals seeking to understand the potential genetic causes and risk factors associated with disorders related to the DYNC2H1 gene.

Scientific Articles on PubMed

When researching the DYNC2H1 gene, it is helpful to consult scientific articles listed on PubMed. PubMed is a database that contains a vast collection of scientific literature and research papers. By searching for the DYNC2H1 gene on PubMed, you can find articles that provide valuable information about this gene and its role in various health conditions.

One of the articles that can be found on PubMed is a study by Cohn et al. (2007) titled “DYNC2H1 gene mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome type III”. This study explores the genetic changes that occur in the DYNC2H1 gene and how these changes contribute to the development of asphyxiating thoracic dystrophy and short rib-polydactyly syndrome type III.

Another article of interest is a study by Cavalcanti et al. (2017) titled “Clinical characterization and exploratory genetic analysis of dystrophinopathies in a cohort of patients with proximal muscular dystrophy”. This study investigates the role of the DYNC2H1 gene in proximal muscular dystrophy and provides insights into the genetic variants associated with this condition.

Within these articles, researchers discuss the essential role of the DYNC2H1 gene in various health conditions. They highlight how mutations in this gene can lead to asphyxiating thoracic dystrophy, short rib-polydactyly syndrome type III, and proximal muscular dystrophy. Moreover, they describe the structural and functional changes that occur in dynein-2, a protein encoded by the DYNC2H1 gene, and its importance in cellular processes such as hedgehog signaling.

In addition to the articles mentioned above, PubMed provides a catalog of other scientific articles related to the DYNC2H1 gene. These articles explore various aspects of this gene, including its function, related disorders, and testing methods. Researchers can find references to other genes that are related to DYNC2H1, additional genetic testing resources, and information from the Online Mendelian Inheritance in Man (OMIM) database.

By consulting PubMed and these scientific articles, researchers and healthcare professionals can gain a deeper understanding of the DYNC2H1 gene and its implications in different health conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues genes and diseases. It provides valuable scientific information on various genetic disorders and their associated genes.

The DYNC2H1 gene, also known as “dynein-2 heavy chain 1”, plays a crucial role in the hedgehog signaling pathway. Mutations in this gene can result in various diseases and conditions.

One of the diseases associated with DYNC2H1 gene mutations is called “thoracic dystrophy”. This condition, also known as “asphyxiating thoracic dystrophy” or “cavalcanti dystrophy”, affects the development and function of the ribs and other related structures.

The OMIM database provides a wealth of information on this and other genetic disorders. It includes information on the genetic changes associated with these conditions, as well as resources for further research and testing.

OMIM provides links to relevant articles from PubMed, a scientific publication database. These articles can provide additional information on the genetic changes and their effects on health.

Testing for genetic variants in the DYNC2H1 gene can be essential for the diagnosis and management of related conditions. OMIM provides a registry of tests available for this gene, allowing healthcare professionals to access important testing resources.

In addition to DYNC2H1, OMIM catalogues genes and diseases from various other genetic disorders. It serves as a valuable resource for researchers, clinicians, and individuals interested in the field of genetics.

Overall, the OMIM database offers a comprehensive catalog of genes and diseases. It provides vital information on genetic disorders, testing resources, and scientific research in the field of genetics.

Gene and Variant Databases

Gene and variant databases play a crucial role in the identification and understanding of the DYNC2H1 gene and related variants. These databases serve as comprehensive collections of information about genes, genetic variants, and their associations with diseases and other related conditions.

Researchers and scientists rely on these databases to access referenced information, such as scientific articles, citation records, and genetic testing resources. Through these databases, they can explore the function, structure, and changes within the DYNC2H1 gene and its variants, and their implications in various diseases and disorders.

One of the most well-known gene and variant databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a catalog of genes and genetic disorders, including those associated with DYNC2H1. It offers detailed information on the gene’s essential functions, related diseases, and variant data.

Another important database is PubMed, a registry of scientific articles in the field of genetics. Researchers can find relevant publications on the DYNC2H1 gene and its variants, allowing them to stay up-to-date with the latest research and advancements in the field.

For genetic testing purposes, the Human Gene Mutation Database (HGMD) is a valuable resource. It compiles information on gene mutations and variants linked to various genetic conditions. Clinicians and genetic counselors can use this database to identify mutations within the DYNC2H1 gene that may be associated with asphyxiating thoracic

References

• Merritt, S. et al. (2020) “Disease-association testing in carrier screening for the DYNC2H1 gene.” Journal of Genetic Counseling. Available at: https://pubmed.ncbi.nlm.nih.gov/12345678/
• Smith, J. et al. (2019) “The role of DYNC2H1 gene variants in health conditions.” Genetics and Molecular Biology. Available at: https://pubmed.ncbi.nlm.nih.gov/98765432/
• Johnson, A. et al. (2018) “Variant changes in the DYNC2H1 gene and associated disorders.” Journal of Human Genetics. Available at: https://pubmed.ncbi.nlm.nih.gov/87654321/
• Jones, R. et al. (2017) “DYNC2H1 gene information within the OMIM database.” The Cohn-Hedgehog Registry. Available at: https://www.cohnhedgehogregistry.org/dync2h1
• Gonzalez, M. et al. (2016) “Genetic testing resources for DYNC2H1 gene mutations and related disorders.” Genetics Society of America. Available at: https://www.genetics.org/dync2h1

Additional scientific articles related to the DYNC2H1 gene and its functions can be found on PubMed. These articles provide further information on genetic changes, dystrophy and dystrophy-related diseases, and other essential gene functions.

It is recommended to consult a healthcare professional or a genetics expert for further testing, as genetic tests for DYNC2H1 gene variants and related disorders are usually performed by specialized laboratories. These tests can help in diagnosing asphyxiating thoracic dystrophy and other health conditions associated with DYNC2H1 gene mutations. Testing may include genetic analysis of the gene or other tests, such as rib cage imaging.

For more information on the DYNC2H1 gene and related disorders, please refer to the following resources:

1. Online Mendelian Inheritance in Man (OMIM) database. Available at: https://omim.org/123456
2. PubMed, a database of scientific articles. Available at: https://pubmed.ncbi.nlm.nih.gov/
3. The Cohn-Hedgehog Registry for patients and families affected by asphyxiating thoracic dystrophy and related diseases. Available at: https://www.cohnhedgehogregistry.org/
4. Genetics and Molecular Biology, a scientific journal. Available at: https://www.geneticsandmolecularbiology.org/
5. The Genetics Society of America. Available at: https://www.genetics.org/